Curricula RELATORI

M. 0701-08 Rev. 00 del 07/04/2014

Silvia De Rubeis

E-mail [email protected] Date of birth 03/05/1982 Work address Dept. Psychiatry, Icahn School of Medicine at Mount Sinai Home address 68 E 97th street apt 24, New York, 10029 NY Phone +1-212-241-0241 Nationality italian

Research experience 03/2013-present Seaver postdoctoral fellow Dept. Psychiatry, Icahn School of Medicine at Mount Sinai, New York, USA Dr. Joseph D. Buxbaum 01/2010-12/2012 Postdoctoral fellow Center for Human Genetics, Katholieke Universiteit Leuven, Belgium Dr. Claudia Bagni 03-04/2010 EMBO short-term postdoctoral fellow Center for Neural Science, New York University, New York, USA Dr. Eric Klann

Education 2006-2009 PhD in Cellular and Molecular Biology University of Rome ‘Tor Vergata’, Rome, Italy Dr. Claudia Bagni 2004-2006 Master bachelor in Cellular and Molecular Biology University of Rome ‘Tor Vergata’, Rome, Italy Dr. Claudia Bagni 2001-2004 Bachelor in Molecular and Cellular Biology University of Rome ‘Tor Vergata’, Rome, Italy Dr. Patrizia M. Baldini

Publications 1. Ionita-Laza I, Capanu M, De Rubeis S, McCallum J, Buxbaum JD. Identification of rare causal variants in sequence-based studies: methods and applications to gene VPS13B, involved in Cohen syndrome and autism. PLoS Genetics, 10(12):e1004729 2. De Rubeis S, He X, Goldberg AP, Poultney CP, et al. Synaptic, chromatin and transcriptional genes disrupted in autism. Nature, 515(7526), 209-15 3. Braat S, D’Hulst C, Heulens I, De Rubeis S, Mientjes E, Nelson DL, Willemsen R, Bagni C, Van Dam D, De Deyn PP, Kooy RF. The GABAA Receptor is an FMRP Target with Therapeutic Potential in Fragile X Syndrome. Cell cycle, in press Silvia De Rubeis, CV

4. De Rubeis S, Pasciuto E, Li KW, Fernandez E, Di Marino D, Buzzi A, Ostroff LE, Zwartkruis F, Klann E, Komiyama NH, Grant S, Choquet D, Poujol C, Achsel T, Posthuma D, Smit AB, Bagni C (2013). CYFIP1 co-ordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation. Neuron, 79(6), 1169-82. 5. Poultney CS, Goldberg AP, Drapeau E, Kou Y, Harony-Nicolas H, Kajiwara Y, De Rubeis S, Durand S, Stevens C, Rehnström K, Palotie A, Daly MJ, Ma'ayan A, Fromer M, Buxbaum JD (2013). Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder. AJHG, 93(4):607-619. 6. He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliff JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K (2013). Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genetics, 9(8). 7. Tassone F *, De Rubeis S *, Carosi C, La Fata G, Serpa G., Raske C, Willemsen R, Hagerman PJ, Bagni C (2011). Differential usage of transcriptional start sites and polyadenylation sites in Fmr1 premutation alleles. Nucleic Acids Res, 39(14):6172-85 *equal contribution 8. De Rubeis S and Bagni C (2011). Regulation of molecular pathways in Fragile X Syndrome: insights into Autism Spectrum Disorders. J Neurodev Disorders, 3(3):257-69. 9. De Rubeis S and Bagni C (2010). Fragile X mental retardation protein control of neuronal mRNA metabolism: insights into mRNA stability. Mol Cell Neurosci, 43, 43-50. 10. Fazi B, Melino S, De Rubeis S, Bagni C, Paci M, Piacentini M and Di Sano F (2009) Acetylation of RTN-1C regulates the induction of ER-stress via inhibition of HDAC activity in neuroectodermal tumors. Oncogene, 28(43), 3814-24. 11. Napoli I, Mercaldo V, Pilo Boyl P, Eleuteri B, Zalfa F, De Rubeis S, Di Marino D, Mohr E, Massimi M, Falconi M, Witke W, Costa-Mattioli M, Sonenberg N, Achsel T and Bagni C (2008). The Fragile X Mental Retardation Protein represses activity-dependent mRNA translation through CYFIP1, a new 4E-BP. Cell, 134(6), 1042-1054. 12. Zalfa F, Eleuteri B, Dickson KS, Mercaldo V, De Rubeis S, Di Penta A, Tabolacci E, Chiurazzi P, Neri G, Grant SGN and Bagni C (2007). A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability. Nat Neurosci, 10 (5), 578-587.

Bookchapters

• De Rubeis S, Fernandez E, Buzzi A, Di Marino D, and Bagni C (2012). Molecular and cellular aspects of mental retardation in the Fragile X Syndrome: from gene mutation/s to spine dysmorphogenesis, Adv Exp Med Biol. 2012; 970:517-51.

• De Rubeis S and Bagni C (2011). Identification and characterization of protein complexes from total brain and synaptoneurosomes: heterogeneity of molecular complexes in distinct subcellular domains. Neuroproteomics, edited by Li KW, Humana Press

• De Rubeis S and Bagni C (2008). Synaptosome. Encyclopedia of Neuroscience, edited by Binder MD, Hirokawa N, Windhorst U, Hirsch, MC. Springer, Part 19, 3982-3985.

2 Silvia De Rubeis, CV

Funding and Awards

2014 Travel grant, Janelia Conference ‘High-Throughput Sequencing for Neuroscience’ 2013 Seaver postdoctoral fellowship 2011 Zeiss Travel Grant, Gordon Research Conference ‘Dendrites: molecules, structure and function’ 2010 EMBO short-term postdoctoral fellowship 2009 Best poster award, ‘Telethon Convention 2009’ 2008-2009 International scholarship, Katholieke Universiteit Leuven 2007 Travel grant, Universidad Internacional de Andalucia, ‘Fragile X-related syndromes: from molecular to clinical approach’ Travel grant, Italian Society of Neuroscience Travel fund, Conquer Fragile X Foundation Best poster award, ‘Florida Fragile X Research Conference: from mechanism to medicine’, Conquer Fragile X Foundation ‘Sebastiano e Rita Raeli’ bachelor award 2006-2007 PhD fellowship, Italian Association for Fragile X

Conferences

2014 Janelia Conference ‘High-Throughput Sequencing for Neuroscience’, poster American Society of Human Genetics 2014, selected speaker New York Illumina User Group Meeting, invited speaker Pitt-Hopkins Research Symposium, invited speaker

2012 CSHL Meeting on Translational Control, selected speaker IX International symposium of molecular genetics – FRAXopathies and RASopathies, invited speaker

2011 Italian Society of Human Genetics, invited speaker European Neurodegenerative Diseases 2011, invited speaker EMBO meeting ‘Intracellular RNA localization and localized translation’, selected speaker Gordon Research Conference ‘Dendrites: molecules, structure and function’, selected speaker 2010 Giovanni Armenise Harvard Foundation, 13th Annual Symposium Neuronal Function and Neurological Disorders

3 Silvia De Rubeis, CV

EMBO Conference ‘Protein synthesis and translational control’, poster 2009 VIB11 retreat, selected speaker Belgian Society for Neuroscience, poster VIB retreat, poster Convention Telethon 2009, poster (best poster award) FENS 2009, poster FENS satellite ‘Synaptic basis of disease’, poster 2008 EMBO meeting ‘RNA and disease: RNA metabolism and associated pathologies’, poster Intellective disabilities and rehabilitation, Associazione Italiana X Fragile, invited speaker 2007 Fragile X-related syndromes: from molecular to clinical approach, selected speaker Italian Society for Neuroscience, selected speaker IX National Congress of Italian Fragile X, selected speaker Fragile X Research Conference: from mechanism to medicine, poster (best poster award) 2006 FISV 2006, selected speaker

Teaching experience 2013 Guest lecture ‘Genetics of autism’ Icahn School of Medicine at Mount Sinai 2011-2012 Advanced Biology of the Cell, 1st year Master in Biology (3 hrs), KUL Hot topics in Cell Biology, 1st year Master in Biology (3 hrs), KUL 2010-2011 Advanced Biology of the Cell, 1st year Master in Biology (1.5 hrs), KUL Hot topics in Cell Biology, 1st year Master in Biology (3 hrs), KUL 2009-2010 Assisting in ‘Advanced Biology of the Cell’ and ‘Hot topics in Cell Biology’, KUL 2006-2007 Tutor in Molecular Biology for Human Biology and Ecology, University of Rome ‘Tor Vergata’ • Supervisor of master students and technicians • External jury member for master thesis in Biology, Katholieke Universiteit Leuven • Supervisor for students of the University of Paris Magistère de Génétique training program (exchange program with Icahn School of Medicine at Mount Sinai)

Related Professional Experience Reviewer for Neuroscience (Top reviewer in 2011) Reviewer for Molecular Autism Member of IMFAR

Scientific commentaries

De Rubeis S and Buxbaum JD (2014). Challenges in autism research: translating genetic findings into novel therapeutics, guest article on BioMed Central Blog for the Autism Awareness Month

4 Silvia De Rubeis, CV

De Rubeis S and Buxbaum JD (2014). Genetic advances in autism: leading the way to improved care, guest article for Genetic Alliance

Languages Italian (native speaker), English, French

5 CURRICULUM VITAE

Name De Vries, Lambertus Bastiaan Arie

Date of Birth 22nd January 1964 Place of Birth Puttershoek, The Netherlands Nationality Dutch

Private Address Hobbel 15a 5661 TN Riethoven The Netherlands

Professional Address Dept. of Human Genetics University Medical Centre Nijmegen P.O. Box 9101, 6500 HB Nijmegen The Netherlands

Telephone: 024-3613946 Fax: 024-3565026 e-mail: [email protected]

EDUCATION AND QUALIFICATIONS 1976-1982 Atheneum RSG Oud-Beijerland Secondary school 1982-1990 Medical School, Doctorandus examination, May 1987 Erasmus University Rotterdam Medical Degree, March 1990 ECFMG certificate for Foreign Medical Graduates, October 1990 1990-1997 Dept. of Clinical Genetics, PhD in Clinical Genetics, April 1997 University Hospital Rotterdam 1996-1999 Dept. of Clinical Genetics, Senior Registrar University Hospital Rotterdam 1999-2000 Clinical Genetics Unit Clinical Research Fellow Institute of Child Health, London 2000- Dept of Human Genetics Consultant Clinical Genetics University Medical Centre

PROFESSIONAL AND RESEARCH EXPERIENCE

For more than 20 years the central theme of my research has been the clinical and molecular study of mental retardation in order to increase insight in the aetiology of this common disorder. During my PhD project, a large-scale clinical and molecular studies for the fragile X syndrome among 3500 mentally retarded individuals was performed (Prof. M.F. Niermeijer and Prof. H. Galjaard). I pioneered efficient and affordable methods for large scale detection of submicroscopic genome defects during my clinical fellowship period in 1999-2000 at The Institute of Child Health/Great Ormond Street Children’s Hospital, London (Prof R. Winter), and continued at Dept. of Human Genetics, RUNMC, Nijmegen (Prof H.G. Brunner). Both in London and Nijmegen, I was involved in the introduction of the subtelomeric arrays in clinical and research settings from 2001, followed by an array for genome wide submicroscopic detection in 2003 with a remarkably high detection rate for causes of non-specific and syndromal mental retardation. I have since developed my group, focussing on the genetic aetiology of mental retardation. Within my group new deletion/duplication syndromes were identified, and subsequent gene identifications in the defined genomic areas became a reality, as in the CHARGE syndrome with the CHD7 gene, the 9q34 deletion syndrome with the EHMT1 gene and the 17q21.31 microdeletion syndrome with the KANSL1 gene. In the field of X linked mental retardation, I contributed to microarray detection of submicroscopical abnormalities, geno- and phenotypic classification, including the MECP2 (Rett) gene, PQBP1 and SLC6A8, and localization/identification of new genes: MRX76, MRX78, PHF6, ZNF81 and ZNF674. With the introduction of novel Next Generation Sequencing techniques, my group focussed on rare but well- recognisable intellectual disability syndromes that has, subsequently, led to the identification of the causative genes for Schinzel-Giedeon syndrome, Bohring-Optiz syndrome, Baraitser-Winter syndrome and Cantu syndrome.

OTHER ACADEMIC ACTVITIES

Board member of the Dutch Society of Human Genetics, co-organizer of the twice a year Dutch Human Genetics Conference. Faculty member and co-organizer of the annual International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism. Coordinator of the European Microdeletion Network (a consortium of 7 European groups) Co-founder of ECARUCA: an EU funded project to establish an internet accessible Database for rare unbalanced chromosome aberrations. Partner of the European X-Linked Mental Retardation Consortium (consisting of 5 European groups)

SCHOLARSHIPS AND AWARDS Ter Meulen Fonds stipendium for young investigators (1994) Various travel scholarships as PhD student (till 1997) The 'Ben ten Haar' award from the Dutch Society of Clinical Genetics for the work on the fragile X syndrome (1997) Ter Meulen Fonds stipendium for clinical research fellowship year at Institute of Child Health London (1999-2000) Clinical Fellowship ZonMW (2002: € 136.100) th 5 Framework, ECARUCA (2003: € 394.500, co-investigator with dr. C. van Ravenswaaij) AGIKO stipendium (2004: € 222.499 for drs D. Koolen) Hersenstichting grant (2006: € 25.000) th 6 Framework, AnEUploidy (2006: € 920.000, co-investigator with prof. H. Brunner and dr. J. Veltman) Hersenstichting grant (2007: € 25.000) VIDI (2007: € 600.000) UMCN junioronderzoekersproject (2008: € 250.000, co-investigator with dr. J. Veltman) Hersenstichting grant (2009: € 35.000) th 7 Framework, GENCODYS (2009 € 1,332,000, co-investigator with prof H. van Bokhoven en dr. A. Schenck) TOPsubsidy, ZonMw (2012: € 675,000)

Invited speaker at international meetings: - Invited Lecture Great Ormond Street Hospital, London, UK (2000) - Invited Seminar Oxford University, UK (2000) - Invited Seminar Bristol University, UK (2000) - Italian Human Genetics Conference, Orvietta, Italy (2002) - European Human Genetics Conference, Munnich (2004) - International conference on Mental Retardation and Autism, Troina, Italy (2005) - Human Genetics Society of Australasia, Newcastle, Australia (2005) - International conference on Mental Retardation and Autism, Troina, Italy (2006) - European Cytogenetics Meeting, Istanbul (2007) - International conference on Mental Retardation and Autism, Troina, Italy (2007) - Golden Helix symposium, Athens, Greece (2008) - International conference on Mental Retardation and Autism, Troina, Italy (2008) - Workshop on Molecular Karyotyping, Leiden, The Netherlands (2009) - International conference on Mental Retardation and Autism, Troina, Italy (2009) - Meeting on Structural Variation in the Human Genome, Cold Spring Harbor, USA (2009) - 18th Meeting of the International Society for Development Neuroscience, Estoril, Portugal (2010) - IGBMC, Strasbourg, France (2012) - AMHG, Guadalajara, Mexico (2012)

Short CV of Jean Maurice DELABAR

- PhD, and State Doctorate; - Postdoctoral fellow in NIMR, MRC London - Postdoctoral fellow in Ins J Monod, Paris - Serves in CNRS since 1982 - Director of research in CNRS since 1990 - Group leader from 1990 to 2001 in URA 1335 and UMR CNRS 8602 (Necker Hospital) - Serves as director of the laboratory “Modelling genes dysregulation: trisomy 21 and hyperhomocysteinemia” in University Paris Diderot since 2002

Coordinator of 4 different European programs on “chromosome 21 and Down syndrome research”. workpackage leader in the Integrated European project: AnEUploidy (2006-2011) Coord. PI in DSther project (ANR MNP, 2010-2012), PI in Therapeutics 21 (ANR Emergence, 2012-2015)

Author of more than 130 publications on Down syndrome and trisomy 21 in peer reviewed journals Member of scientific societies: European Society of Human Genetics, Société des Neurosciences, European Society of Neurosciences

Main research interests are: -genotype –phenotype correlations in Down syndrome, -modeling the phenotypic consequences of gene dosage errors (in trisomy, monosomy 21 and in hyperhomocysteinemia) on neurometabolism and cognition -assessing efficiency of protective strategies against these phenotypic alterations.

CURRICULUM VITAE Evan Eugene Eichler Professor, Genome Sciences University of Washington & Howard Hughes Medical Institute Phone: 206-543-9526 E-mail: [email protected]

EDUCATION 1995 Ph.D. Department of Human Molecular Genetics, Baylor College of Medicine, Houston, TX Thesis (David L. Nelson, Supervisor): AGG Interspersions within the FMR1 CGG Repeat: Models and Mechanisms of Triplet Repeat Instability 1991 – Research Scholar; Ludwig-Maximillians Universitaet, Munich, Germany 1990 B.S. Department of Biology, University of Saskatchewan, Saskatoon, Canada (Honours Program in Biology)

PROFESSIONAL EXPERIENCE 2008–Present Professor (with tenure): Department of Genome Sciences, University of Washington (UW), Seattle, WA 2005–Present Howard Hughes Medical Institute Investigator 2004–Present Affiliate Professor: Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA 2004–2008 Associate Professor (with tenure): Department of Genome Sciences, UW, Seattle, WA 2003–2004 Associate Professor (with tenure): Department of Genetics, Case Western Reserve University (CWRU), Cleveland, OH 2003–2004 Appointed Faculty Member: Cancer Center, Division of Medical Sciences, CWRU, Cleveland, OH 2002–2004 Director of Bioinformatics Core Facility: Department of Genetics, CWRU, Cleveland, OH 1999–2004 Appointed Faculty Member: University Hospitals of Cleveland, Cleveland, OH 1997–2003 Assistant Professor: Department of Genetics, Case Western Reserve University, Cleveland, OH 1997 Research Affiliate: Department of Human Genetics, Roswell Park Cancer Institute, Buffalo, NY 1995–1997 Postdoctoral Fellow, Biology and Biotechnology Research Program Lawrence Livermore National Laboratory, Livermore, CA (Harvey Mohrenweiser, Supervisor)

HONORS AND AWARDS 2014 Honorary Professor, Kunming University of Science and Technology (KUST), Kunming, China 2013 National Academy of Sciences (NAS; Elected 2012) 2012 Washington State Academy of Sciences (WSAS) 2012 Mendel Lecture (“Gilded Pea” Award): European Society of Human Genetics, Nuremberg, Germany 2010 AAAS Newcomb Cleveland Prize 2009 Distinguished Alumnus Award: Baylor College of Medicine, Graduate School 2008 Curt Stern Award: American Society of Human Genetics, Philadelphia, PA 2006 AAAS Fellow: American Association for the Advancement of Science 1998–2001 Basil O’Connor Young Investigator Award: March of Dimes Birth Defects Foundation 1995–1997 Distinguished Human Genome Postdoctoral Fellowship: Dept of Energy Genome Hollaender Fellowship 1994 Predoctoral Basic Research Award: American Society of Human Genetics 1993–1995 National Research Service Award/Human Genome Research: National Institutes of Health 1990–1991 Research Scientist Award: Deutscher Akademischer Austauschdienst 1987 Canadian Summer Research Award: National Science and Engineering Research Council of Canada

ACADEMIC SERVICE (Current) Editorial 2009–Present Editorial Board of Molecular Autism 2004–2012 Academic Editor, Public Library of Science (PLoS) 2002–Present Editor of Genome Research

Scientific Advisory Boards (SABs) 2013–Present New York Genome Center (NYGC) SAB 2012–Present DNAnexus, Inc. SAB 2011–2013 SynapDx Corp. SAB 2009–2013 Pacific Biosciences Scientific Advisory Board 2009–2012 Simons Foundation Autism Research Initiative (SFARI) Structural Variation Project (SSVP) SAB 2008–2012 Yerkes National Primate Center Scientific Advisory Board 2008–2012 International Cancer Genome Consortium SAB, Ontario Institute of Cancer Research

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International 2014–Present Chinese 1000 Talents Program, Kunming University of Science and Technology, China; term 2014–2016 2012–2014 Board of Directors, American Society of Human Genetics (ASHG) 2012 Organizer, Personal Genomes and Medical Genomics Meeting, Cold Spring Harbor Laboratory, New York 2011 Organizer, Keystone Symposium: Functional Consequences of Genome Structural Variation 2011 Steering Committee, 1000 Genomes Project 2008–Present Co-Chair, 1000 Genomes Project Structural Variation Working Group

National Advisory 2014–Present NIH/NHGRI Study Section, Genome Research Review Committee, GNOM-G; term 2014–2017 2011–Present Autism Sequencing Consortium (ASC) 2010, 2011 Simons Foundation, Next-generation Sequencing Meeting for Autism 2006–Present NHGRI, Genomic Structural Variation Steering Committee 2005–Present NHGRI, Medical Sequencing Working Group (MSWG) Member 2003–Present NHGRI, Annotating the Human Genome (AHG) Working Group 2002–Present Member, BAC Resource Steering Panel (BRSP) Committee, NHGRI

RESEARCH TRAINING Postdoctoral Fellows/Research Associates: 9 current & 22 previous; Doctoral Students: 4 current & 9 previous; Masters: 3 previous; Thesis Committees: 6 current & 32 previous Ph.D. Advisees

INVITED SEMINARS AND LECTURES 1997–Present: Over 377 invited talks, seminars and plenary lectures

RESEARCH GRANTS Active: 12 currently funded grants including NIH (9), Simons Foundation (2), and The Paul G. Allen Family Foundation Previous: 25 previously funded grants with NIH (15), Simons Foundation (3), American Asthma Foundation, Department of Energy, March of Dimes, National Science Foundation, Charles B. Wang Foundation, Oklahoma Foundation, and Ohio Board of Regents

PUBLICATIONS Selected from 318 peer-reviewed publications; 155 first or corresponding senior-author publications

Eichler EE, Holden JJA, Popovich BW, Reiss AL, Richards CS, Snow K, Thibodeau SN, Ward PA, Nelson DL. (1994). Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet 8:88–94. PMID: 7987398; http://www.nature.com/ng/journal/v8/n1/pdf/ng0994-88.pdf. Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz SS, Adams MD, Myers EW, Li PW, Eichler EE. (2002). Recent segmental duplications in the human genome. Science 293:1003–1007. PMID: 12169732; http://www.sciencemag.org/cgi/content/full/297/5583/1003. She X, Horvath JE, Jiang Z, Liu G, Furey TS, Christ L, Clark R, Graves T, Alkan C, Bailey JA, Sahinalp C, Rocchi M, Haussler D, Wilson RK, Miller W, Schwartz S, Eichler EE. (2004). The structure and evolution of centromeric transition regions within the human genome. Nature 430:857–864. PMID: 15318213; http://www.nature.com/nature/journal/v430/n7002/full/nature02806.html. Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV, Eichler EE. (2005). Fine-scale structural variation of the human genome. Nat Genet 37:727–732. PMID: 15895083; http://www.nature.com/ng/journal/v37/n7/full/ng1562.html. Cheng Z, Ventura M, She X, Khaitovich P, Graves T, Osoegawa K, Church D, DeJong P, Wilson RK, Pääbo S, Rocchi M, Eichler EE. (2005). A genome-wide comparison of recent chimpanzee and human segmental duplications. Nature Sep;437(7055):88–93. PMID: 16136132; http://www.nature.com/nature/journal/v437/n7055/full/nature04000.html Locke DP, Sharp AJ, McCarroll SA, McGrath SD, Newman TL, Cheng Z, Schwartz S, Albertson DG, Pinkel D, Altshuler DM, Eichler EE. (2006). Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet 79:275–290. PMCID: PMC1559496. Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE. (2006). Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 38:1038–1042. PMID: 16906162; http://www.nature.com/ng/journal/v38/n9/full/ng1862.html. Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, Sherry ST, Smith D, Valle D, Waterston RH. (2007). Completing the map of human genetic variation. Nature 447(7141):161–165 (10 May 2007). PMCID: PMC2685471.

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Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE. (2008). A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet Mar;40(3):322–328. PMCID: PMC2365467. Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, … (31 authors) …, Nickerson DA, Mullikin JC, Wilson RK, Bruhn L, Olson MV, Kaul R, Smith DR, Eichler EE. (2008). Mapping and sequencing of structural variation from eight human genomes. Nature May 1;453(7191):56–64. PMCID: PMC2424287. She X, Cheng Z, Zöllner S, Church DM, Eichler EE. (2008). Mouse segmental duplication and copy number variation. Nat Genet. Jul;40(7):909–914. PMCID: PMC2574762. Jiang Z, Hubley R, Smit A, Eichler EE. (2008). DupMasker: a tool for annotating primate segmental duplications. Genome Res. Aug;18(8):1362–1368. PMCID: PMC2493431. Zody MC, Jiang Z, Fung HC, Antonacci F, Hillier LW, Cardone MF, Graves TA, Kidd JM, Cheng Z, Abouelleil A, Chen L, Wallis J, Glasscock J, Wilson RK, Reily AD, Duckworth J, Ventura M, Hardy J, Warren WC, Eichler EE. (2008). Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat Genet. Sep;40(9):1076–1083. PMCID: PMC2684794. Cooper GM, Zerr T, Kidd JM, Eichler EE, Nickerson DA. (2008). Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet Oct;40(10):1199–1203. PMCID: PMC2759751. Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, … (71 authors) …, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE. (2008). Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med Oct 16;359(16):1685–1699. PMCID: PMC2703742. Marques-Bonet T, Kidd JM, Ventura M, Graves TA, Cheng Z, Hillier LW, Jiang Z, Baker C, Malfavon-Borja R, Fulton LA, Alkan C, Aksay G, Girirajan S, Siswara P, Chen L, Cardone MF, Navarro A, Mardis ER, Wilson RK, Eichler EE. (2009). A burst of segmental duplications in the genome of the African great ape ancestor. Nature. Feb 12;457(7231):877–881. PMCID: PMC2751663. Nicholas TJ, Cheng Z, Ventura M, Mealey K, Eichler EE, Akey JM. (2009). The genomic architecture of segmental duplications and associated copy number variants in dogs. Genome Res. Mar;19(3):491–499. PMCID: PMC2661811. Bekpen C, Marques-Bonet T, Alkan C, Antonacci F, Leogrande MB, Ventura M, Kidd JM, Siswara P, Howard JC, Eichler EE. (2009). Death and resurrection of the human IRGM gene. PLoS Genet. Mar;5(3):e1000403. PMCID: PMC2644816. Marques-Bonet T, Ryder OA, Eichler EE. (2009). Sequencing primate genomes: what have we learned? Annu Rev Genomics Hum Genet. 10:355–386. PMID: 19630567. Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F, Hormozdiari F, Kitzman JO, Baker C, Malig M, Mutlu O, Sahinalp SC, Gibbs RA, Eichler EE. (2009). Personalized copy number and segmental duplication maps using next- generation sequencing. Nat Genet Oct;41(10):1061–1067. PMCID: PMC2875196. Marques-Bonet T, Girirajan S, Eichler EE. (2009). The origins and impact of primate segmental duplications. Trends Genet. Oct;25(10):443-54. PMCID: PMC2847396. Girirajan S, … (57 authors) …, Eichler EE. (2010). A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet Mar;42(3):203–209. PMCID: PMC2847896. Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J, 1000 Genomes Project, Eichler EE. (2010). Diversity of human copy number variation and multicopy genes. Science. October 29;330(6004):641–646. PMCID: PMC3020103. Kidd JM, Graves T, Newman TL, Fulton R, Hayden HS, Malig M, Kallicki J, Kaul R, Wilson RK, Eichler EE. (2010). A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell Nov 24;143(5):837–847. PMCID: PMC3026629. O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE. (2011). Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet Jun;43(6):585-589. PMCID: PMC3115696. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE. (2011). A copy number variation morbidity map of developmental delay. Nat Genet Aug 14;43(9):838–846. PMCID: PMC3171215. Girirajan S, Brkanac Z, Coe BP, Baker C, Vives L, Vu TH, Shafer N, Bernier R, Ferrero GB, Silengo M, Warren ST, Moreno CS, Fichera M, Romano C, Raskind WH, Eichler EE. (2011). Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes. PLoS Genet Nov;7(11):e1002334. PMCID: PMC3213131. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE. (2012). Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature Apr 4;485(7397):246–250. PMCID: PMC3350576. Itsara A, Vissers LELM, Meltz Steinberg K, Meyer KJ, Zody MC, Koolen DA, de Ligt J, Cuppen E, Baker C, Lee C, Graves TA, Wilson RK, Jenkins RB, Veltman JA, Eichler EE. (2012). Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. Am J Hum Genet Apr 6;90(4):599–613. PMCID: PMC3322237. 3

Dennis MY, Nuttle X, Sudmant PH, Antonacci F, Graves TA, Nefedov M, Rosenfeld JA, Sajjadian S, Malig M, Kotkiewicz H, Curry CJ, Shafer S, Shaffer LF, de Jong PJ, Wilson RK, Eichler EE. (2012). Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell 03 May 11;149(4):912–922. PMCID: PMC3365555. Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP, NHLBI Exome Sequencing Project N, Quinlan AR, Nickerson DA, Eichler EE. (2012). Copy number variation detection and genotyping from exome sequence data. Genome Res Aug;22(8):1525–1532. PMCID: PMC3409265. Steinberg KM, Antonacci F, Sudmant PH, Kidd JM, Campbell CD, Vives L, Malig M, Scheinfeldt L, Beggs W, Ibrahim M, Lema G, Nyambo TB, Omar SA, Bodo JM, Froment A, Donnelly MP, Kidd KK, Tishkoff SA, Eichler EE. (2012). Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nat Genet Jul 1;44(8):872–880. PMCID: PMC3408829. Girirajan S, Dennis MY, Baker C, Malig M, Coe BP, Campbell CD, Mark K, Vu TH, Alkan C, Cheng Z, Biesecker LG, Bernier R, Eichler EE. (2013). Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Am J Hum Genet Feb 7;92(2):221–237. PMCID: PMC3567267. Sudmant PH, Huddleston J, Catacchio CR, Malig M, Hillier LW, Baker C, Mohajeri K, Kondova I, Bontrop RE, Persengiev S, Antonacci F, Ventura M, Prado Martinez J, Marques-Bonet T, Eichler EE. (2013). Evolution and diversity of copy number variation in the great ape lineage. Genome Res Sep;23(9):1373–1382. PMCID: PMC3759715. Hormozdiari F, Konkel MK, Prado-Martinez J, Chiatante G, Herraez IH, Walker JA, Nelson B, Alkan C, Sudmant PH, Huddleston J, Catacchio CR, Ko A, Malig M, Baker C; Great Ape Genome Project, Marques-Bonet T, Ventura M, Batzer MA, Eichler EE. (2013). Rates and patterns of great ape retrotransposition. Proc Natl Acad Sci U S A Aug 13;110(33):13457–13462. PMCID: PMC3746892. Nuttle X, Huddleston J, O'Roak BJ, Antonacci F, Fichera M, Romano C, Shendure J, Eichler EE. (2013). Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions. Nat Methods Aug;10(9):903–909. PMCID: PMC3985568. Jacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, Beckmann JS, Rosenfeld JA, Eichler EE. (2014). A higher mutational burden in females supports a "Female Protective Model" in neurodevelopmental disorders. Am J Hum Genet Mar 6;94(3):415–425. PMCID: PMC3951938. Huddleston J, Ranade S, Malig M, Antonacci F, Chaisson M, Hon L, Sudmant PH, Graves TA, Alkan C, Dennis MY, Wilson RK, Turner SW, Korlach J, Eichler EE. (2014). Reconstructing complex regions of genomes using long-read sequencing technology. Genome Res Apr;24(4):688–696. PMCID: PMC3975067. Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, Thompson E, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gecz J, de Vries BB, Romano C, Eichler EE. (2014). Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet Oct;46(10):1063–1071. PMCID: PMC4177294. Antonacci F, Dennis MY, Huddleston J, Sudmant PH, Steinberg KM, Rosenfeld JA, Miroballo M, Graves TA, Vives L, Malig M, Denman L, Raja A, Stuart A, Tang J, Munson B, Shaffer LG, Amemiya CT, Wilson RK, Eichler EE. (2014). Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability. Nat Genet Dec;46(12):1293–1302. PMCID: PMC4244265. Chaisson MJ, Huddleston J, Dennis MY, Sudmant PH, Malig M, Hormozdiari F, Antonacci F, Surti U, Sandstrom R, Boitano M, Landolin JM, Stamatoyannopoulos JA, Hunkapiller MW, Korlach J, Eichler EE. (2014). Resolving the complexity of the human genome using single-molecule sequencing. Nature Nov 10. doi: 10.1038/nature13907. [Epub ahead of print] PMCID: In Process. Hormozdiari F, Penn O, Borenstein E, Eichler EE. (2015). The discovery of integrated gene networks for autism and related disorders. Genome Res Jan;25(1):142–154. Epub 2014 Nov 5. PMCID: In Process. O'Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, Vives L, Baker C, Hiatt JB, Nickerson DA, Bernier R, Shendure J, Eichler EE. (2014). Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat Commun Nov 24;5:5595. PMCID: PMC4249945.

4

BIOGRAPHICAL SKETCH

NAME POSITION TITLE Gécz, Jozef Professor NH&MRC Senior Principal Research Fellow

EDUCATION/TRAINING (Begin with baccalaureate or other initial professional education, such as nursing, and include postdoctoral training.) DEGREE INSTITUTION AND LOCATION YEAR(s) FIELD OF STUDY (if applicable)

Comenius University, Bratislava Czechoslovakia BsC (Hons) 1981-86 human genetics Slovak Academy of Sciences, Bratislava, Slovakia PhD 1993 human molecular genetics

A. Positions and Honors.

Positions and Employment 1986-1988 Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Czechoslovakia 1988-1993 PhD, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Czechoslovakia 1991-1993 INSERM U49, Faculty of Medicine, La Timone, Marseille, France 1993-1994 Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Slovakia 1994-2013 Department of Genetic Medicine (former Dept. Cytogenetics and Molecular Genetics), Women's and Children's Hospital, North Adelaide, Australia 2013-present Professor of Neurogenetics, Department of Pediatrics, University of Adelaide, Adelaide, Australia 2013-present NH&MRC Senior Principal Research Fellow

Selected Other Experience and Professional Memberships 1992-present Human Genome Organisation (HUGO) - member of the International Scientific Program Committee (HGM Meetings, 2003, 2004). 1998-present Human Genetics Society of Australasia, member and past president of the South Australian branch, chair HGSA SPC and HGSA council member 2004-2007, HGSA representative for ICHG 2006 and 2011. 2001-present Australian Society for Medical Research, member of the South Australian branch executive committee (2001-2003) 2003-present American Society of Human Genetics 2003-present European Society of Human Genetics 2010-present Royal College of Pathologists of Australasia (RCPA), Founding Fellow, Faculty of Science 2011-present Head, Faculty 1000 - Medical Genetics Section (Genomics & Genetics Faculty) 2013-present Australian Neuroscience Society 2013 Chair, 16th International Workshop on Fragile X and Other Early Onset Cognitive Disorders 2014 Chair, Lorne Genome Conference 2010-2014 NHMRC Academy member

Selected awards 1986 Prize of Ministry of Education - awarded to top 10 students in the country 1989 Gold Medal of the Slovak Academy of Sciences - award to young scientist 2005 Elected, president of the SA branch of HGSA, member of the HGSA Council 2005 Inaugural HGSA (Human Genetics Society of Australasia) 'Sutherland' lecture award’. 2007 South Australian Great Finalist in ‘Excellence in research for public good outcomes’ 2008 Toshi Yamada memorial lecture, Institute of Molecular Biosciences and Queensland Institute of Brain Research, Queensland, Australia. 2009 NARF (National Association of Research Fellows) annual lecture award, Sydney, November 27, 2009. 2010 NHMRC Excellence Award for the highest ranking Program Grant Application (NHMRC 628952). 2012 Izakovic Memorial Medal Award of the Slovak Society of Medical Genetics.

PHS 398/2590 (Rev. 05/01) Page Biographical Sketch Format Page Principal Investigator/Program Director (Last, First, Middle):

2012 Award of the Associazione Abitanti Centro Storico di Roma (Rome, Italy) for research into molecular genetics of the disorders of the Central nervous system.

B. Selected peer-reviewed original research publications (from 209, in chronological order). 1. Gécz, J., Gedeon, A.G., Sutherland, G.R., Mulley, J.C. Identification of FMR2: A gene associated with FRAXE mental retardation. Nature Genetics 13:105-108, 1996. 2. Villard, L., Gécz, J., Mattei, J.F., Saugier-Veber, P., Munnich, A., Lyonnet, S., Fontes, M. XNP Mutation in a large family with Juberg-Marsidi Syndrome. Nature Genetics 12:359-360, 1996. 3. Merienne, K., Jacquot, S., Pennetier, S., Bankier, A., Gécz, J., Mandel, J.L., Mulley, J.C., Sassone-Corsi, P., and Hanauer, A. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nature Genetics 22, 13-14, 1999. 4. Gedeon, A.K., Colley, A., Jamieson, R., Thompson, E.M., Rogers, J., Sillence, D., Tiller, G.E, Mulley, J.C., and Gécz, J. Identification and expression of the SEDL gene for X-linked spondyloepiphyseal dysplasia tarda (SEDL). Nature Genetics 22, 400-404, 1999. 5. P. Strømme, M. E. Mangelsdorf, M. A. Shaw, K. M. Lower, S. M.S. Lewis, H. Bruyere, V. Lütcherath, Á. K. Gedeon, R. H. Wallace, I. E. Scheffer, G. Turner, M. Partington, S. Frints, J-P. Fryns, G. R. Sutherlan, J. C. Mulley, J. Gécz Mutations of the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nature Genetics 30: 441-445, 2002. 6. K. M. Lower, G. Turner, B. J. Kerr, K. D. Mathews, M. A. Shaw, Á. K. Gedeon, S. Schelley, E. Hoyme, S. M. White, M. B. Delatycki, A. K. Lampe, J. Clayton-Smith, H. Stewart, C. M.A. van Ravenswaay, B. B.A. de Vries, B. Cox, Markus Grompe, S. Ross, P. Thomas, J. C. Mulley, J. Gécz Mutations in a novel PHD finger gene, PHF6, cause Börjeson -Forssman-Lehmann syndrome. Nature Genetics 32(4):661-5, 2002. 7. VM Kalscheuer, K Freude, L-R Jensen, J Gécz, K Hoffmann, B Moser, S Haas, U Gurok, S Haesler, P Nierle, B Aranda, A Nshedjan, A Tzschach, N Hartmann, T-C Roloff, S Shoichet, O Hagens, T Jiong, JP Fryns, U Nuber, M Hoeltzenbein, R Reinhardt, M Vingron, C Scharff, H Scherthan, S Lenzner, S Schweiger & HH Ropers. Mutations in the polyglutamine-binding protein 1 gene cause X-linked mental retardation. Nature Genetics 35(4):313-315, 2003. 8. Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson- Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gecz J. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nature Genetics 39(9):1127-1133, 2007. 9. Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O’Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Hyong-Goo K, Geschwind D H, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gecz J. Protocadherin 19 mutations cause sex-limited epilepsy and cognitive impairment. Nature Genetics 40(6):776-81, 2008. 10. Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster

Principal Investigator/Program Director (Last, First, Middle):

R, Tejada MI, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nature Genetics 41(5):535-43, 2009. 11. Chan WK, Bhalla A, Nguyen LS, Huang L, Gécz J, and Wilkinson MF. A UPF3- mediated regulatory switch that maintains RNA surveillance. Nature Structural and Molecular Biology 16(7):747-53, 2009. 12. Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE.A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics, 42(3):203-209, 2010. 13. Van Vlierberghe P, Palomero T, Khiabanian H, Van der Meulen J, Castillo M, Van Roy N, De Moerloose B, Philippé J, González-García S, Toribio ML, Taghon T, Zuurbier L, Cauwelier B, Harrison CJ, Schwab C, Pisecker M, Strehl S, Langerak AW, Gecz J, Sonneveld E, Pieters R, Paietta E, Rowe JM, Wiernik PH, Benoit Y, Soulier J, Poppe B, Yao X, Cordon-Cardo C, Meijerink J, Rabadan R, Speleman F, Ferrando A. PHF6 mutations in T-cell acute lymphoblastic leukemia. Nature Genetics, 42(4):338-342, 2010. 14. Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nature Genetics, 42(6):486-488, 2010. 15. Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PMC, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O’Brien T, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AMJM, Pandolfo M, Berkovic SF, Scheffer IE. Mutations in DEPDC5 cause Familial Focal Epilepsy with Variable Foci. Nature genetics, 45(5):546-51, 2013.

C. Current Research Support Australian NH&MRC Program Grant ID: 628952 ‘Neurobiology of human epilepsy: Genes, cellular mechanisms, networks and whole brain.’ Chief investigator (one of 10) 2011-2015, AUD $16.5 million.

Australian NH&MRC Project Grant ID: 1063808 'Identification and characterisation of novel genes for congenital cataract.' Chief investigator A 2014-2016, AUD $763,953.00.

Australian NH&MRC Senior Principal Research Fellowship, ID: 1041920 3/2013-2/2018, AUD $883,375.00.

Plus several local Foundation grants (Channel 7 Children’s Research Foundation, Women’s and Children’s Hospital Foundation and philanthropic funds).

[R. Guerrini CV] 1

CURRICULUM VITAE

EU FORMAT

PERSONAL INFORMATION

Name Renzo Guerrini Address Professional address: Children's Hospital A. Meyer, viale Pieraccini 24, 50139 Firenze, Italy Telephone +39 (0) 55 5662573 Fax +39 (0) 55 5662329 E-mail [email protected]; [email protected] Nationality Italian Date and Place of birth 25th November 1956, Terni (Italy)

CURRENT POSITION

• Dates (from – to) 2012- • Name and address of employer University Children’s Hospital A. Meyer, viale Pieraccini 24, Firenze, Italy • Type of business or sector Hospital - Research • Occupation or position held Director, Neuroscience Department

• Dates (from – to) 2010- • Name and address of employer University of Florence, Piazza san Marco 4, Firenze (Italy) • Type of business or sector Medical school • Occupation or position held Director of postgraduate teaching in Child Neurology and Psychiatry

• Dates (from – to) 2006- • Name and address of employer University of Florence, Piazza san Marco 4, Firenze (Italy) • Type of business or sector Medical school - Hospital - Research • Occupation or position held Professor (Full) of Child Neurology and Psychiatry, and Director - Paediatric Neurology Unit and Laboratories, University Hospital A. Meyer, Florence (Italy)

WORK EXPERIENCE

• Dates (from – to) 2009-2012 • Name and address of employer IRCCS Stella Maris, viale del Tirreno 331, Calambrone, Pisa (Italy) • Type of business or sector Medical Research (Child Neurology and Psychiatry) • Occupation or position held Research Director (part-time occupation) • Main activities and responsibilities Coordinator of research planning and activities, member of the National College of Scientific Directors

• Dates (from – to) 2003-2006 • Name and address of employer University of Pisa, Lungarno Pacinotti 43, 56126 Pisa • Type of business or sector Medical school – Hospital - Research • Occupation or position held Professor of Child Neurology and Psychiatry (Associate Professor), and Director Child

[R. Guerrini CV] 2

Neuropsychiatry Clinical and Research Unit and Laboratories • Main activities and responsibilities Clinical and Research Unit Director

• Dates (from – to) 04/2001-12/2002 • Name and address of employer Institute of Child Health University College London (30 Guilford Street, WC1N1EH London, UK) and Great Ormond Street Hospital for Children • Type of business or sector Medical school – Hospital - Research • Occupation or position held Professor of Paediatric Neurology (full professorship, tenure position) • Main activities and responsibilities Clinical, Research, Teaching

• Dates (from – to) 08/1999-03/2001 • Name and address of employer GKT School of Medicine, King’s College (Academic Neuroscience Centre, Denmark Hill, SE5 9RS London, UK) - University of London • Type of business or sector Medical school – Hospital - Research • Occupation or position held Professor of Epilepsy-Clinical Neurosciences (full professorship, tenure position): Epilepsy - Divison of Neurosciences and Director of the Centre for Epilepsy • Main activities and responsibilities Clinical, Research, Teaching

• Dates (from – to) 1988-1999 (1989-1990 abroad – see below) • Name and address of employer IRCCS Stella Maris, viale del Tirreno 331, Calambrone, Pisa (Italy) • Type of business or sector Hospital - Research • Occupation or position held Consultant and Assistant Professor 1988; Head of Clinical Neurophysiology and Neurogenetics Research Laboratory, 1994-1998; Head of Epilepsy Clinic, 1994-1999 • Main activities and responsibilities Clinical Duties, Research Coordinator

• Dates (from – to) 1989-1990 • Name and address of employer Universitè d'Aix-Marseille (21, Rue V. Marron, Marseille, France), Hoital de Sinte Marguerite and Centre Saint Paul, Marseille • Type of business or sector Hospital - Research • Occupation or position held Attaché • Main activities and responsibilities Clinical Duties, Research

EDUCATION AND TRAINING

• Dates (from – to) 1991 • Name and type of organization University of Pisa, Italy, July 15, 1991 providing education and training • Principal subjects/occupational Postgraduate training – clinical duties skills covered • Title of qualification awarded Specialist in Child Neurology and Psychiatry

• Dates (from – to) 1987-1988 • Name and type of organization University of Aix-Marseille, France, June 23, 1988 providing education and training • Principal subjects/occupational Postgraduate training - diagnostics skills covered • Title of qualification awarded Specialist in Clinical Neurophysiology

• Dates (from – to) 1986 • Name and type of organization University of Perugia, Italy, July 7, 1986 providing education and training • Principal subjects/occupational Postgraduate training – clinical duties skills covered

[R. Guerrini CV] 3

• Title of qualification awarded Specialist in Neurology

• Dates (from – to) 1982 • Name and type of organization Medical School, University of Perugia, Italy, July 27, 1982 providing education and training • Title of qualification awarded MD

PERSONAL SKILLS AND COMPETENCES Acquired in the course of life and career but not necessarily covered by formal certificates and diplomas.

MOTHER TONGUE Italian

OTHER LANGUAGES English • Reading skills Excellent • Writing skills Excellent • Verbal skills Excellent

French • Reading skills Excellent • Writing skills Excellent • Verbal skills Excellent

SOCIAL SKILLS In the last 20 years has acted as clinical and research coordinator and team leader in multicultural environments in Italy and in the UK. Has obtained international recognitions. Has AND COMPETENCES participated to, or coordinated, task forces, committees and commissions of international bodies Living and working with other people, in such as the World Health Organization (WHO), The International League Against Epilepsy multicultural environments, in positions (ILAE) the European Medicines Agency (EMEA), the Italian League Against Epilepsy, INSERM where communication is important and commissions. situations where teamwork is essential etc.

See above. He has coordinated 20 research Projects in Italy and in the UK (funding bodies: ORGANISATIONAL SKILLS European Community, GKT Special Trustees, The Fund for Epilepsy, Telethon Foundation, AND COMPETENCES Mariani Foundation, Italian Ministry of Health, Italian Ministry of Education, University ad Coordination and administration of Research, Tuscany Region). people, projects and budgets at work His research group focuses on the clinical, neurophysiological and neurogenetic aspects of pediatric epilepsies, brain development and cognitive impairment. He has written over 400 Papers on Peer reviewed journals - Impact Factor 1900, H Index: 70 (Google Scholar) -, 10 books in English, invited speaker at more than 400 meetings worldwide.

TECHNICAL SKILLS The main competences in computer are in the area of neurophysiology signals AND COMPETENCES With computers, specific kinds of equipment, machinery, etc.

[R. Guerrini CV] 4

ADDITIONAL INFORMATION Appointment to External Committees

- Member elected, Directory, The Italian League Against Epilepsy (1996-2005) - Trustee, The Fund for Epilepsy, Charitable Foundation (since 1999) - Key Member The Commission of Pediatrics, The International League Against Epilepsy (1997- 2000; 2006-2009) - Chairman, subcommission on Neuropsychology in Children, The International League Against Epilepsy (1999-2000) - Member, Classification and Terminology Task force. The International League Against Epilepsy (1999-2001) - Chairman, The Commission on Paediatrics, The International League Against Epilepsy (2002- 2006) - Co-Director Master of Science Course in Epileptology of King’s College, University of London (1999-2000) - Director, Epilepsy Summer course on: Epilepsy in children: neurobiological, clinical and therapeutic approach; International School of Neurological Sciences of Venice (July 11th-22nd 2004) - Commission for guidelines of treatment of childhood epilepsy: World Health Organization (2003-2004 and 2006-2010) - Regione Toscana: Coordinator for Rare Neurological Diseases (2008-) - Member, Paediatric Epilepsy Expert Group at EMEA (European Medicine Agency) (2009-) - Fondazione Mariani – Research Scientific Committee (2010-) - Euromedicat Advisory Board (2012-)

Awards Ambassador for Epilepsy ILAE, 2003 American Epilepsy Society's Clinical Research Recognition Award, 2012

Scientific Commitee Member and Referee:

General Medical Council, UK (Referee) INSERM – Institut Nationale de la Récherché Medicale, France (Referee) AERES – France (Referee) Epilepsy Research Foundation, UK (Referee) Fondazione Mariani, Italy (Research Council Member) The Harvard University, Boston (Referee) The University College London, UK (Referee) The University of Chicago, USA (Referee) The University of Birmingham, UK (Referee) Riken Brain Science Institute, Hirosawa (Japan) ICE (Intractable Childhood Epilepsy Alliance, USA) Imago7 Research Foundation (Ultra High Field Brain Imaging, Italy) SINPIA (Italian Society of Paediatric Neuropsychiatry)

Appointment to Editorial Boards Member of the Editorial Board of the following peer reviewed journals/Book series:

• Journal of Child Neurology (1995-2011) • Epilepsies (1994-) • Epileptic Disorders (1998-) • Epilepsia (2000-2004)

[R. Guerrini CV] 5

• Seizure (Member of the CPD Committee 2001 - 2003 and Editorial board 2005-) • Neuropediatrics (2002-2010) • Neurological Sciences (2004-2010) • BMC Medical Genetics (2007-) • European Journal of Neurology (2009-) • Progress in Epileptic Disorders (Book Series) (2007-) • Topics in Epilepsy (Book Series) (2008-) • Journal of Paediatric Epilepsy (2010-) • Editorial Board of Neurology (2013-)

Associate Editor EPILEPSIA (2006-2009; 2009-)

ANNEXES -

Prof Peter Kind

Professor of Developmental Neuroscience Hugh Robson Building room 420 15 George Square Edinburgh EH8 9XD Work: +44 (0)131 651 1762 Fax: +44 (0)131 651 1706 Email: [email protected]

One issue addressed in my lab is: What are the key synaptic proteins that regulate activity- development of the cerebral cortex and how do they regulate synaptic development? Personal profile

returned to Colin Blakemore’s laboratory as a research fellow before taking up a lectureship at Edinburgh University in January 2000 completed a DPhil at the University of Oxford, working in Professor Colin Blakemore’s laboratory, before assuming a postdoctoral position with Professor Susan Hockfield at Yale University in 1993 graduated from Dalhousie University with a BSc in Neurosciences in 1988 Research

The brain develops as a result of a complex interplay between genetic instruction (Nature) and experience (Nurture). Our laboratory is interested in genes that allow the brain to learn and store information during development.

At the heart of both childhood and adult learning and memory are the molecules that regulate the way neurons communicate, namely neurotransmitter receptors and their downstream signaling pathways.

Recently several forms of childhood cognitive impairment, including Fragile X Syndrome (FXS), have been shown to result from genetic alteration of genes encoding proteins that regulate glutamate receptors signaling and synaptic development.

FXS is the most common form of genetically inherited cognitive impairment with a prevalence of approximately 1:4000 boys and 1:8000 girls.

FXS results from genetic silencing of the fragile X mental retardation gene (Fmr1), which encodes the fragile X mental retardation protein (FMRP).

FMRP is a key regulator of synaptic development and belongs to a family of “synaptopathies” caused by genetic disruption of genes that encode synaptic proteins that result in altered synaptic development.

Other synaptic proteins being examined in the laboratory whose disruption leads to cognitive impairment in humans include SynGAP and SAP-102.

Finally we are examining the role of the Tuberous Sclerosis genes (Tsc1 and Tsc2) in cortical development.

David A. Koolen, M.D., Ph.D. ([email protected])

QUALIFICATIONS 2002: Doctor of Medicine: Radboud University Nijmegen, the Netherlands: 2008: Ph.D., Clinical Genetics (cum laude), 2011: Clinical Geneticist

CURRENT POSITION 2011-present: Consultant Clinical Genetics, Department of Human Genetics, Radboud university medical centre, Nijmegen, The Netherlands

AWARDS Best thesis award 2008, Nijmegen Centre for Molecular Life Sciences (NCMLS).

CURRENT RESEARCH FOCUS AND INTEREST My main focus of research over the last five years has been the clinical characterization of the Koolen-de Vries syndrome and the elucidation of the genetic causes of intellectual disability. During my PhD project, I used whole genome microarrays as a tool to detect CNVs in patients with intellectual disability. This resulted in the identification of five new syndromes, including the 17q21.31 microdeletion syndrome (later Koolen-de Vries syndrome). These results underscored the ‘genome first’ paradigm in clinical genetics as a genuine and successful concept. With the introduction of next generation sequencing in the routine workup of patients with intellectual disability, there has been a shift from CNVs to the clinical interpretation of novel gene mutations. My interest is the identification of novel syndromes and as such, for the years to come, my goal is to unravel intellectual disability and to reach clinically well-defined diagnoses.

SELECTED PEER-REVIEWED PUBLICATIONS (5 from 43 peer-reviewed publications, as of March 2015).

1: Maley AM, Spraker MK, de Vries BB, Koolen DA. Vitiligo in the Koolen-de Vries or 17q21.31 microdeletion syndrome. Clin Dysmorphol. 2015 Apr;24(2):86-7

2: de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012 Nov 15;367(20):1921-9.

3: Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012 Apr 29;44(6):639-41.

4: Koolen DA, Dupont J, de Leeuw N, Vissers LE, van den Heuvel SP, Bradbury A, Steer J, de Brouwer AP, Ten Kate LP, Nillesen WM, de Vries BB, Parker MJ. Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism. Eur J Hum Genet. 2012 Jul;20(7):729-33.

5: Koolen DA, Pfundt R, de Leeuw N, Hehir-Kwa JY, Nillesen WM, Neefs I, Scheltinga I, Sistermans E, Smeets D, Brunner HG, Geurts van Kessel A, Veltman JA, de Vries BB. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat. 2009, 30:283-92.

CURRICULUM VITAE

Name: Kooy Surname: R. Frank Date of Birth: 8 April 1959 Nationality: Dutch Martial status: Married to Lilian Bosten, 3 children Private Adress: Citroenvlinderhof 11 4904 XN Oosterhout The Netherlands

Office: Department of Medical Genetics University of Antwerp Universiteitsplein 1 B 2610 Antwerp Belgium Academic degree: MSc in Biology, University of Utrecht, 1985 PhD (in Molecular Parasitology), Universiteit of Utrecht, 1991 (promotores: Prof. Dr. D. Zwart, Prof. Dr. M. Van der Ploeg) Past positions: - Assistant professor in Veterinary Parasitology, University of Utrecht (chair: Prof. Dr. D. Zwart, Prof. Dr. A.W.C.A. Cornelissen), 1986-1991 - Postdoctoraal fellowship (Nationaal Fund for Scientific Research, NWO) at the department of Human Genetics, University of Groningen (chair: Prof. Dr. C.H.C.M. Buys), 1991-1994

Current position: - Full professor in cognitive Genetics at the Department of Medical Genetics, University of Antwerp, 1995-present

Teaching: - State-of-the-Art lectures in Biomedicine, 1e Ma BMW, co- titularis - Gen en genoomtechnologie, 1e Ma BMW, Titularis - Laboratory Animal Science, 2e Ma BMW, medewerker - Cel and Gene Biotechnology - Integrated Practicum Biotechnology - Permanent Education Course in Human Genetics” of the BeSHG (Interuniversitair), 2008-present

Memberships

Founder Board member (2000-2005) and treasurer (2001-2005) of the Belgian Society of Human Genetics

Member (2006-present) of the Scientific and Clinical Advisory Committee of the National Fragile X Foundation (San Francisco, CA)

Faculty Member (2008-present) of the Faculty of 1000 Biology

Member (2013-present) of the Scientific Advisory Committee of the Belgian Fragile X association “Association X Fragile Belgique”.

PUBLICATIONS (2010-present)

Kooy RF, Van der Aa N, Vandeweyer G, Reyniers E, Rooms L, Genetic overlaps in mental retardation, autism and schizophrenia (2010) Monogr Hum Genet 18:126-136 Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Lese Martin C, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BBA, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J (2010) Further molecular and clinical delineation of collocating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet 47:299-311 Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chevre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP, Dupuis-Girod S, Labalme A, Sanlaville D, Beri- Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, MacDermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sjostrom L, Huang N, Hurles ME, O/'Rahilly S, Farooqi IS, Mannik K, Jarvelin MR, Pattou F, Meyre D, Walley AJ, Coin LJM, Blakemore AIF, Froguel P, Beckmann JS (2010) A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 463:671-675 Kooy RF (2010) Distinct disorders affecting the brain share common genetic origins. F1000 Biol Rep 2:11 Van der Aa N, Vandeweyer G, Kooy RF (2010) A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12. Eur J Med Genet 53: 291- 293 Heulens I, D'Hulst C, Braat S, Rooms L, Kooy RF (2010) Involvement and therapeutic potential of the GABAergic system in the fragile X syndrome. ScientificWorldJournal 10: 2198–2206 Heulens I, Kooy RF (2011) Fragile X syndrome: from gene discovery to therapy. Front Biosci: 16, 1211-1232 Rooms L, Vandeweyer G, Reyniers E, van Mol K, de Canck I, Van der Aa N, Rossau R, Kooy RF (2011) Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation. Am J Med Genet:155A, 343–348 Vandeweyer G, Reyniers E, Wuyts W, Rooms L, Kooy RF (2011) CNV-WebStore: Online CNV Analysis, Storage and Interpretation. BMC Bioinformatics:12, 4 Rooms L, Kooy RF (2011) Advances in understanding fragile X syndrome and related disorders. Curr Opin Pediatr:23, 601–606 Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernandez-Aranda F, Fernandez-Real JM, Gratacos M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Mannik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Bena F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jimenez-Murcia S, Joly Helas G, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstatter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, Macdermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Antonietta Mencarelli M, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Coumba Ndiaye N, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Paolo Ramelli G, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann, C Sigurdsson, E, Stavropoulos DJ, Stefansson H, Tengstrom C, Thorsteinsdottir U, Tinahones FJ, Touraine R, Vallee L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Volzke H, Vulto-van Silfhout AT, Waeber G, Wallgren- Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI Beckmann JS, Froguel P (2011) Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature: 478, 97-102 Heulens I, Braat S, Kooy RF (2011) A novel dimension to fragile X syndrome. Genome Med: 3,80 Vandeweyer G, Van der Aa N, Ceulemans B, van Bon B, Rooms L, Kooy RF (2012) A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA, Epilepsy Res: 99, 346-349 Heulens I, D’Hulst C, Van Dam D, De Deyn PP, Kooy RF (2012) Pharmacological treatment of the fragile X syndrome with GABAergic drugs in a mouse model. Behav Brain Res: 229, 244– 249 Vandeweyer G, Van der Aa N, Reyniers E, Kooy RF (2012) The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome, Am J Hum Genet: 90, 1071-1078 Van der Aa N, Vandeweyer G, Reyniers E, Kenis S, Dom L, Mortier G, Rooms L, Kooy, RF (2012) Haploinsufficiency of CMIP in a girl with autism spectrum disorder (ASD) and developmental delay due to a de novo deletion on chromosome 16q23.2, Autism Res: 5, 277-281 Helsmoortel C, Vandeweyer G, Kooy RF (2012) On the spot: very local chromosomal rearrangements, F1000 Biol Rep: 4, 22 Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Mace A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Mannik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S, Simons VIP Consortium, 16p11.2 European Consortium, including Kooy F (2012) A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders, J Med Genet 49, 660-668. Heulens I, Suttie M, Postnov A, De Clerck N, Perrotta CS, Mattina T, Faravelli F, Forzano F, Kooy RF, Hammond P (2013) Craniofacial characteristics of Fragile X syndrome in mouse and man, Eur J Hum Genet: 21, 816-823 Vandeweyer, G., Kooy, R.F. (2013) Detection and interpretation of genomic structural variation in health and disease, Expert Rev Mol Diagn 13: 61-82 Iqbal Z, Vandeweyer G, van der Voet M, Waryah AM, Zahoor MY, Besseling JA, Roca LT, Vulto-van Silfhout AT, Nijhof B, Kramer JM, Van der Aa N, Ansar M, Peeters H, Helsmoortel C, Gilissen C, Vissers L, Veltman JA, de Brouwer AP, Kooy RF, Riazuddin S, Schenck A, van Bokhoven H, Rooms L (2013) Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders, Hum Mol Genet: 22, 1960-1970 Ajit Bolar N, Vanlander AV, Wilbrecht C, Van der Aa N, Smet J, De Paepe B, Vandeweyer G, Kooy F, Eyskens F, De Latter E, Delanghe G, Govaert P, Leroy JG, Loeys, B, Lill R, Van Laer L, Van Coster R (2013) Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy, Hum Mol Genet: 22, 2590-2602 Braat S, Kooy RF (2014) Fragile X Syndrome Neurobiology Translates into Rational Therapy, Drug Discov Today, in press Berman RF, Buijsen R, Usdin K, Pintado E, Kooy F, Pretto D, Pessah IN, Nelson DL, Zalewski Z, Charlet-Bergeurand N, Willemsen R, Hukema R. 2014. Mouse models of the Fragile X premutation. J Neurodev Disord:in press. Helsmoortel C, Vulto-van Siflhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JHM, Marcelis CM, Willemsen MH, Vissers LELM, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BBA, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. 2014. A SWI/SNF related autism syndrome caused by de novo mutations in ADNP. Nat Genet:doi:10.1038/ng.2899. Metsu S, Rooms L, Rainger J, Taylor MS, Bengani H, Wilson DI, Reddy Chilamakuri CS, Morrison H, Vandeweyer G, Reyniers E, Douglas E, Thompson G, Haan E, Gecz J, FitzPatrick DR, Kooy RF. 2014. FRA2A is a CGG repeat expansion associated with silencing of AFF3 PLoS Genet:in press.

______Patents: CGG repeat expansion in the DIP2B gene as a cause of mental retardation. GB, 0624533.6 Involvement of autosomal fragile sites in mental retardation, US serial no. 60/948,506 ______

Project team

Cognitive Genetics Group leader: Prof.Dr. Frank Kooy Postdocs: Drs. Geert Vandeweyer, Nathalie Van der Aa, MD Predocs: Sofie Metsu, Sien Braat, Celine Helsmoortel, Ilse van der Werf, Anke Van Dijck, MD

Promotorship of PhD students

Ilse Gantois, 17 November 2003 Liesbeth Rooms, 29 May 2006 Kim Debacker, 12 July 2007 Charlotte D’Hulst, 19 May 2009 Geert Vandeweyer, 21 Dec 2011, Nathalie Van der Aa, 11 May 2012, Inge Heulens, 21 May 2012

Heather Christy Mefford, MD, PhD 4712 NE 60th St. / Seattle, WA 98115 206.919.1723 (C) / 206.543.9572 (W) [email protected]

Current Position Assistant Professor University of Washington, Seattle, WA Department of Pediatrics, Division of Genetic Medicine 01 / 2010 – present previously: Acting Assistant Professor, 8 / 2008 – 1 / 2010

Medical Genetics Training University of Washington, Seattle, WA Fellow, Medical Genetics 07 / 2005 – 07 / 2008 Board certified 08 / 2007 Research mentor: Evan E. Eichler, PhD

Pediatrics Residency Training Seattle Children’s Hospital University of Washington, Seattle, WA 07 / 2003 – 06 / 2006 Board certified 10 / 2007

Medical Education University of Washington School of Medicine, Seattle, WA 07 / 1995 – 06 / 2003 MD, 06 / 2003

Graduate Education University of Washington, Seattle, WA Department of Genetics 07 / 1995 - 12 / 2001 PhD, Genetics, 12 / 2001 Thesis advisor: Barbara J. Trask, PhD Thesis: “Evolution and biology of a subtelomeric repeat containing an expressed olfactory receptor gene”

Undergraduate Education Washington University, St. Louis, MO 08 / 1990 - 05 / 1994 B.S. Chemical Engineering, 05 / 1994

Heather C. Mefford, MD, PhD 1 January, 2013

Medical Licensure WA MD00047797 AK MED S 6660

Hospital Privileges Seattle Children’s Hospital, Seattle, WA University of Washington Medical Center, Seattle, WA Swedish Medical Center, Seattle, WA Providence Medical Center, Anchorage, Alaska

PEER-REVIEWED PUBLICATIONS

^ corresponding author * co-first author

1. Bassuk AG, Geraghty E, Wu S, Mullen SA, Berkovic SF, Scheffer IE, Mefford HC^ (2013) Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy. Am J Medical Genetics (accepted for publication)

2. Kirov A, Dimova P, Todrova A, Mefford H, Todorov T, saraylieva G, Bojinova V, Mitev V, Helbig I (2013) 15q13.3. microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria. Epilepsy Research [Epub ahead of print]

3. McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ; the University of Washington Center for Mendelian Genomics (2012) Mutations in ECEL1 cause distal arthrogryposis type 5D. American Journal of Human Genetics 92:150-6. PMCID: PMC3542461

4. Kirov A, Dimova P, Todorova A, Mefford HC, Todorov T, Saraylieva G, Bojinova V, Mitev V, Helbig I (2012) Familial 15q13.3 microdeletion and microduplication in idiopathic generalized epilepsy in Bulgarian patients. Epilepsy Research [Epub ahead of print]

5. Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert I, Wichmann H, Ernst JP, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig, Sander T, EPICURE Consortium (2012) Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia 54:256-64.

6. O’Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill GL, Kumar K, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O’Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J (2012) Massively multiplex targeted sequencing identified genes recurrently disrupted in autism spectrum disorders. Science 338:1619-22. PMCID: PMC3528801

Heather C. Mefford, MD, PhD 2 January, 2013

7. Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo C-N, Shorvon S, Mefford HC, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H (2012) Kohlschutter-Tonz syndrome: Mutations in ROGDI and evidence of genetic heterogeneity. Human Mutation 34:296-300.

8. Epi4K Consortium (2012) Epi4K: Gene Discovery in 4,000 genomes. Epilepsia 53:1457-67. PMCID: PMC3418423

9. Helbig I, Hartmann C, Mefford HC (2012) The unexpected role of copy number variations in juvenile myoclonic epilepsy. Epilepsy and Behavior (accepted)

10. Mefford HC, Cook J, Gospe SM (2012) Epilepsy Due to 20q13.33 Subtelomere Deletion Masquerading as Pyridoxine-Dependent Epilepsy. Am J Med Genet 158A:3190-5.

11. Mefford HC^, Batshaw ML, Hoffman EP (2012) Genomics, Intellectual Disability and Autism. New England Journal of Medicine 366:733-43.

12. Mefford HC, Shur N, Rosenfeld J (2012) 15q24 Microdeletion. In GeneReviews at GeneTests: Medical Genetics Information Resource. Copyright, University of Washington, Seattle, 1997-2011. Available at http://www.genetests.org.

13. Hing AV, Mefford HC, Cunningham ML (2012) New development in genetic diagnosis: implications for the craniofacial surgeon. J Craniofac Surg 23:212-6.

14. Bachmann-Gagescu R, Ishak GE, Dempsey J, Adkins J, O’Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford HC, Glass I, Doherty D (2012) Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. J Med Genet 49:126-37.

15. Mefford HC^, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE (2011) Further clinical and molecular delineation of the 15q24 microdeletion syndrome. J Med Genet 49:110-8. PMCID: PMC3261729

16. Mefford HC^, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, Eeg-Olofsson O, Sadleir LG, Gill D, Ben-Zeev B, Lerman-Sagie T, Mackay M, Freeman JL, Andermann E, Pelakanos J, Andrews I, Wallace G, Eichler EE, Berkovic SF, Scheffer IE (2011) Rare copy number variants are an important cause of epileptic encephalopathies. Annals of Neurology 70:974-85. PMCID: PMC3245646

17. Muhle H, Mefford HC, Obermeier T, von Spiczak S, Eichler EE, Stephani U, Sander T, Helbig I (2011) Absence Seizures with Intellectual Disability as a phenotype of the 15q13.3 microdeletion syndrome. Epilepsia 52:e194-8.

Heather C. Mefford, MD, PhD 3 January, 2013

18. Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillan MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Juosawa K, Hou J, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ (2011) Spectrum of MLL2 (ALR) Mutations in 110 Cases of Kabuki Syndrome. Am J Med Gen 155A:1511-6. PMCID: PMC3121928

19. Carranza Rojo D, Hamiwka L, McMahon JM, Dibbens LM, Arsov T, Suls A, Stodberg T, Kelley K, Wirrell EC, Appleton B, Mackay MT, Freeman JL, Yendle SC, Berkovic SF, Bienvenu T, De Jonghe P, Thorburn DR, Mulley JC, Mefford HC, Scheffer IE (2011) De Novo SCN1A mutations in Migrating Partial Seizures of Infancy. Neurology 77:380-3. PMCID: PMC3140798

20. Sisodiya SM, Mefford HC (2011) Genetic contribution to the common epilepsies. Curr Opin Neurol. 24:140-5.

21. Mulley JC, Mefford HC (2011) Epilepsy and the New Cytogenetics. Epilepsia 52:423-32. PMCID: PMC3079368

22. van Bon BWM, Mefford HC, de Vries BBA (2010) 15q13.3 Microdeletion. In GeneReviews at GeneTests: Medical Genetics Information Resource (http://www.genetests.org). Copyright University of Washington, Seattle. 1997-2011.

23. Mefford HC^, Mulley JC (2010) Genetically complex epilepsies, copy number variants and syndrome constellations. Genome Medicine 2:71. PMCID: PMC2988446.

24. Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J (2010) Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nature Genetics 42:790-3. PMCID: PMC2930028.

25. Bachmann-Gagescu R*, Mefford HC*^, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton SW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD (2010) Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genetics in Medicine 12:641-7.

26. Mefford HC^, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE. (2010) Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genetics 6:e1000962. PMCID: PMC2873910.

27. Mefford HC^, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, Cunningham ML (2010) Copy number variation analysis in single suture craniosynostosis reveals RUNX2 duplication in two cousins with metopic craniosynostosis. Am J Med Genet 152A:2203-10.

Heather C. Mefford, MD, PhD 4 January, 2013

28. Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh, T McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Ballif B, Platky K, Farber D, Gowans GC, Wetherbee J, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore J, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald McGinn D, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend K, Fichera M, Romano C, Gécz J, deLisi L, Sebat J, King MC, Shaffer LG, Eichler EE (2010) A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay. Nat Genet 42:203-9. PMC2847896.

29. Mefford HC^. (2009) Genotype to phenotype – discovery and characterization of novel genomic disorders in a “genotype-first” era. Genetics in Medicine 11:836-42.

30. Collie A, Landsverk M, Ruzzo E, Mefford H, Buysse K, Adkins J, Knutzen D, Barnett K, Brown R Jr, Parry G, Yum S, Simpson D, Olney R, Chinnery P, Eichler E, Chance P, Hannibal M. (2009) Non- recurrent SEPT9 duplications cause Hereditary Neuralgic Amyotrophy. J Med Genet 47:601-7. PMID: 19939853.

31. de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuß-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Kasteleijn-Nolst Trenité D, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T. (2009) Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain. 133:23-32. PMCID: PMC2801323.

32. Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF (2009) Familial and sporadic 15q13.3 microdeletions in Idiopathic Generalized Epilepsy: Precedent for Disorders with Complex Inheritance. Human Molecular Genetics 18:3626-31.

33. Mefford HC, Cooper GM, Zerr T, Smith J, Baker C, Shafer N, Thorland E, Skinner C, Schwartz CE, Nickerson DA, Eichler EE (2009) A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Research 19:1579-85. PMCID: PMC2752120.

34. Mefford HC, Eichler EE (2009) Duplication Hotspots, Rare Genomic Disorders and Common Disease. Current Opinion in Genetics & Development 19:196-204. PMCID: PMC2746670.

35. van Bon BWM, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJL, Mercer C, Fichera M, Stewart H, Connell LE, Ounap K, Castle B, vsn der AA N, van Ravenswaaij C, an der Smagt J, Nobrega M, de Leewu N, Pfundt R, Bongers EM, van Kalmthout M, Vandeweijer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods C, Oostra A, Speleman F, Poot M, Kurg A, Willat L, Knights SJL, Vermeesch JR, Romano C, Mortier G, Barber JC, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BBA (2009) Further delineation of the 15q13 micro- deletion and duplication syndrome: A clinical spectrum varying from non-pathogenic to a severe outcome. Journal of Medical Genetics 46:511-23.

Heather C. Mefford, MD, PhD 5 January, 2013

36. Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE (2009) Population analysis of large copy number variants and hotspots of human genetic disease. American Journal of Human Genetics 84:148-61.

37. Sparkes RL, Shetty S, Chernos JE, Mefford HC, Micheil Innes A. (2009) Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling. Prenatal Diagnosis 29:283-6.

38. Landsverk ML, Ruzzo EK, Mefford HC, Buysse K, Buchan JG, Eichler EE, Petty EM, Peterson EA, Knutzen DM, Barnett K, Farlow MR, Caress J, Parry GJ, Quan D, Gardner KL, Hong M, Simmons Z, Bird TD, Chance PF, Hannibal MC (2008) Duplication within the SEPT9 gene associated with a founder effect in North American families with Hereditary Neuralgic Amyotrophy. Human Molecular Genetics 18:1200-8. PMCID: PMC2722193.

39. Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuß-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan G, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nuernberg P, Romano C, Malafosse A, Koeleman BPC, Lindhout D, Stephani U, Schreiber D, Eichler EE, Sander T (2009) 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nature Genetics 41:160-2. PMCID: PMC3026630.

40. Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Giudice ML, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE. (2008) Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. New England Journal of Medicine 359: 1685-99. PMCID: PMC2703742.

41. Sharp AJ, Mefford HC, Li KE, Broomer AJ, Wang Y, Xiao C, Barbacioru C, Baker C, Skinner C, Stevenson RE, Schroer R, Novara F, De Gregori M, Ciccone R, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Cooper GM, Knight SJL, Romano C, Zuffardi O, Chen C, Schwartz C, Eichler EE (2008) A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nature Genetics 40:322-8. PMCID: PMC2365467.

42. Hannes F, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns J-P, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight JSL, Eichler EE,

Heather C. Mefford, MD, PhD 6 January, 2013

Vermeesch JR. (2009) Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. Journal of Medical Genetics 46:223-32 [Epub 2008 Jun 11]. PMCID: PMC2658752.

43. Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullman R, Kapur R, Pinkel D, Cooper GM, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C. (2007) Recurrent reciprocal genomic rearrangements of 17q12 are involved in renal disease, diabetes and epilepsy. American Journal of Human Genetics 81:1057-69. PMCID: PMC2265663.

44. Gygi MP, Ferguson MD, Mefford HC, Lund KP, O'Day C, Zhou P, Friedman C, van den Engh G, Stolowitz ML, Trask BJ. (2002) Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry. Nucleic Acids Research 30:2790-2799. PMCID: PMC117061.

45. Mefford HC, Trask BJ. (2002) The complex structure and dynamic evolution of human subtelomeres. Nature Reviews Genetics 3:91-102.

46. Linardopoulou E*, Mefford HC*, Nguyen O, Friedman C, van den Engh G, Farwell DG, Coltrera M, Trask BJ. (2001) Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location. Human Molecular Genetics 10:2373- 2383.

47. Mefford HC*, Linardopoulou E, Coil D, van den Engh G, Trask BJ. (2001) Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes. Human Molecular Genetics 10:2363-2372.

48. Mefford HC, Baumbach L, Panguluri RC, Whitfield-Broome C, Szabo C, Smith S, King MC, Dunston G, Stoppa-Lyonnet D, Arena F. (1999) Evidence for a BRCA1 founder mutation in families of West African ancestry. American Journal of Human Genetics 65:575-578. PMCID: PMC1377959.

49. Mefford H, van den Engh G, Friedman C, Trask BJ. (1997) Analysis of the variation in chromosome size among diverse human populations by bivariate flow karyotyping. Human Genetics 100:138-144.

50. Schubert EL, Lee MK, Mefford HC, Argonza RH, Morrow JE, Hull J, Dann JL, King MC. (1997) BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2. American Journal of Human Genetics 60:1031-1040. PMCID: PMC1712449.

51. Schubert EL, Mefford HC, Dann JL, Argonza RH, Hull J, King MC. (1997) BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and ovarian cancer. Genetic Testing 1:41-46.

Heather C. Mefford, MD, PhD 7 January, 2013

52. Trask BJ, Mefford H, van den Engh G, Massa HF, Juyal RC, Potocki L, Finucane B, Abuelo DN, Witt DR, Magenis E, Baldini A, Greenberg F, Lupski JR, Patel PI. (1996) Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Human Genetics 98:710-718.

OTHER PUBLICATIONS (non-peer reviewed)

Mefford HC (2012) Diagnostic Exome Sequencing – Are we there yet? New England Journal of Medicine 367:1951-3. (invited editorial)

SUBMITTED / IN PREPARATION

Carvill GL, Regan BM, Yendle SC, O’Roak BJ, Khan A, Sadleir LG, Tsai M, Turner SJ, Webseter R, Ouvrier R, Damiano J, Berkovic SF, Shendure J, Hidlebrand M, Scheffer IE, Mefford HC^ (submitted, under review) Epilepsy-aphasia spectrum disorders are caused by mutations in GRIN2A

Carvill GL, Heaven S, McMahon J, Yendle S, Cook J, Khan A, O’Roak BJ, Dorschner MO, Shendure J, Berkovic S, Scheffer IE, Mefford HC^ (submitted, under review) Targeted, high-throughput seqeuencing of candidate genes identifies novel epileptic encephalopathy genes.

Epi4K Consortium and EPGP Investigators (submitted, under review) De novo mutations are responsible for up to 20 percent of patients with epileptic encephalopathies.

Abrahams BS, Arking DE, Campbell DB, Mefford HC, Morrow EM, Weiss LA, Menashe I, Wadkins T, Banerjee-Basu S, Packer A. (submitted) SFARI Gene 2.0: a community-driven knowledgebase for the Autism Spectrum Disorders (ASDs)

Mefford HC, Geraghty E, Cook J, Nordli DR, Gospe SM (in preparation) Identification of Exon Deletion in ALDH7A1 Using Custom Gene Array CGH in Siblings with Pyridoxine-Dependent Epilepsy

Chen et al. (in preparation) Two novel mutatinos in ABHD12: Expansion of the mutation spectrum in PHARC and assessment of their functional effects

BOOK CHAPTERS

Mefford HC (2012) Rare variants of substantial effect in pediatric disorders of childhood onset, for Neurobiology of Mental Illness, 4th Edition, Oxford University Press (invited book chapter).

Cooper GM and Mefford HC (2011) Detection of copy number variation using SNP genotyping, for Methods in Molecular Biology: Human Pluripotent Stem Cells: Methods & Protocols. 767:243-52. (invited book chapter).

Heather C. Mefford, MD, PhD 8 January, 2013

Mefford HC (2009) The importance of genomic architecture in mental retardation. Monographs in Human Genetics: Genetics of Mental Retardation. Knight, SJL ed. (invited book chapter).

COMMITTEES

2008 – present: Member, Scientific Committee for the International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism, Troina, Sicily. Responsible for inviting speakers and organizing the agenda for this annual international meeting.

2009 – present: SFARI (Simons Foundation Autism Research Initiative) Gene Advisory Board.

2011 – present: Medical Genetics Residency Committee, University of Washington

2011 – present: Climate for Diversity Committee, Seattle Children’s Hospital

2011 – present: Faculty Finance Committee, Department of Pediatrics, University of Washington

2011 – present: Member, Engaging Faculty and Child Health Researchers not based at Seattle Children’s Hospital

STUDENTS & MENTEES

Adiba Khan (July 2012 – present): undergraduate student. Ms. Kahn is an undergraduate who volunteered in the lab during the summer of 2012. She is now carrying out a research project and applying for funding through the Mary Gates Research Scholarship. Gemma Carvill, PhD (Jan 2010 – present): post-doctoral fellow. Dr. Carvill received her PhD from University of Cape Town, South Africa in 2010 studying genetic and epigenetic contributions to intellectual disability. She joined the Mefford lab in January 2011 and is using state-of-the-art technologies to investigate the genetics of epilepsy. She has three first-author publications in preparation based on her work to date. Corinna Hartmann (August 2011 – July 2012): visiting medical student from University of Kiel, Germany. Corinna joined my lab as a visiting medical student to complete her medical thesis project. She studied copy number variation in SCN1A-negative Dravet syndrome and used targeted capture and next generation sequencing to identify sequence variants in a similar series of patients. She is currently finishing her medical training in Kiel. Laurel Steinmetz, MD (Jan 2010 – July 2012): Pediatric Nephrology fellow investigating the role of copy number variants in fetal renal abnormalities. She is current Assitant Professor in the Department of Nephrology at University of Missouri, Kansas City, Children’s Mercy Hospital. Karen Buysse, PhD (Jan – July 2008): I supervised Karen as a visiting graduate student for 6 months. Her project involved designing a screening microarray to identify copy number variants in individuals with idiopathic epilepsy. She completed her PhD upon returning to Belgium, secured funding for a post-doctoral fellowship (EMBO) and is currently a post-doctoral fellow in Nijmegen, The Netherlands.

Heather C. Mefford, MD, PhD 9 January, 2013

Cynthia Hsu (June 2009 – June 2010): Cynthia carried out an undergraduate research project to identify copy number changes in patients with epileptic encephalopathy. She received funding through the Mary Gates Research Scholarship for her project. She is now in the MD/PhD program at University of California, San Diego.

INVITED PRESENTATIONS

INTERNATIONAL March 2013 – 30th International Epilepsy Congress, Montreal Canada (invited speaker) March 2013 – Pediatrics Grand Rounds at University of British Columbia, Vancouver, Canada October 2012 – Canadian League Against Epilepsy biennial meeting, Calgary, Canada: “The role of copy number variants in genetic epilepsies” (invited speaker, Plenary Session) May 2012 – International Child Neurology Conference, Brisbane, Australia: “CNVs in epilepsy, ASD and Intellectual disability” (Invited speaker, 30-min presentation) March 2011 – Genomic Disorders Meeting, Sanger Center, Hinxton, UK: “Copy number variants in epilepsies” (Invited speaker, 30-min presentation) September 2010 – North East Epilepsy Meeting, Newcastle Upon Tyne, England: “Copy number variants in epilepsy: Identification of novel susceptibility loci” (Invited Keynote Speaker, 30-min platform presentation) May 2010 – DECIPHER Symposium, Hinxton, UK: “A Spectrum of Genomic Disorders” (Invited Keynote Speaker, 30-min platform presentation) April 2009 – Invited Speaker, 5th International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism; Troina, Sicily; “Rare genomic rearrangements, common diseases” (30-min invited presentation) April 2008 - Invited Speaker, 4th International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism; Troina, Sicily: “Duplication-mediated rearrangements, congenital birth defects and mental retardation” (30-min invited slide presentation) April 2007 – Invited Speaker, 3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism; Troina, Sicily: “Segmental Duplications and Genomic Disorders: A targeted approach to disease discovery” (30-min invited slide presentation)

NATIONAL July 2013 – Invited speaker, Human Genetics and Genomics Gordon Conference, December 2012 – American Epilepsy Society Annual Meeting, San Diego, CA: “Gene Discovery in Epilepsy”, invited speaker for Merritt Putnam Symposium April 2012 – Pediatric Academic Societies Annual Meeting, Boston, MA: “Microarrays and Whole Exome Sequencing Provide a Window into Developmental Brain Disorders” December 2011 – American Epilepsy Society Annual Meeting, Baltimore, MD: “Genomic approaches to epilepsy: Copy number variants” (30-min invited talk, Genetics Special Interest Groups session) October 2011 – Coming Together on Epilepsy Genetics Workshop, Jackson Labs, Bar Harbor Maine: Invited speaker, 30-min presentation: “CNVs in epilepsy” March 2011 – American College of Medical Genetics Annual Clinical Genetics Meeting, Vancouver, WA: Invited speaker for Short Course: New Insights into the evaluation of the Individual with Intellectual Disability.

Heather C. Mefford, MD, PhD 10 January, 2013

December 2010 – American Epilepsy Society Annual Meeting, San Antonio, TX: Invited speaker for Translational Investigators’ Workshop entitled “Copy Number Variation in the Epilepsies” December 2009 – American Epilepsy Society Annual Meeting, Boston, MA: “Copy Number Variants in Epilepsy: Identification of new susceptibility loci by array CGH” (20-min invited presentation) November 2009 – Banbury Meeting, Structural Variation in the Human Genome: “Copy number variants in epilepsy – expanding the phenotypic spectrum of genomic disorders” (30-min invited presentation) June 2009 – Grand Rounds, Partners Healthcare Center for Personalized Genetic Medicine, Brigham & Women’s Hospital, Boston (invited seminar / award recipient) April 2009 – Grand Rounds, Department of Human Genetics, Emory University: “Finding the missing links: Discovery of novel microdeletion syndromes “ (invited speaker, 1-hr presentation) November 2007 – NimbleGen Webinar: “Genome Architecture and Genomic Disease: A Targeted Approach to Disease Discovery” (invited 1-hr web-based seminar)

LOCAL March 2013 – Department of Pediatrics Grand Rounds January 2013 – Laboratory Medicine Grand Rounds September 2012 – Epilepsy Research Conference, Harborview Medical Center September 2012 - University of Washington Department of Neurology Grand Rounds May 2012 – Northwest Institute of Genetic Medicine Annual Retreat March 2012 – Medical Genetics Seminar, University of Washington: “Genomics for Gene Discovery in Epilepsy” May 2011 – Northwest Genetics Exchange, University of British Columbia, Vancouver, BC: “Copy number variants are an important cause of epileptic encephalopathies” May 2009 – Northwest Institute of Genetic Medicine Annual Retreat, University of Washington, Seattle, WA: “Discovery and characterization of novel genomic disorders” May 2009 – Grand Rounds, Department of Pediatrics, Providence Medical Center, Anchorage, AK: “Discovery and characterization of novel microdeletion syndromes” March 2009 – Early Career Award Symposium, University of Washington, Seattle WA: “Finding the missing pieces: discovery of novel genomic disorders in pediatrics” April 2008 – Fellows’ Research Day, Children’s Hospital and Regional Medical Center: “Recurrent microdeletions of 15q13.3 associated with mental retardation and seizures”; *Recipient of Fellows’ Research Day Award for Outstanding Basic Science Research November 2007 – Medical Genetics Seminar, University of Washington, Seattle, WA: “Genome Architecture and Genomic Disease: A Targeted Approach to Disease Discovery” May 2007 – Spring Pacific Northwest Genetics Exchange: “Genomic disease in pediatrics: A targeted approach to discovery of novel disorders” April 2007 – Fellows’ Research Day, Children’s Hospital and Regional Medical Center: “Genomic Disease in Pediatrics Identification of novel microdeletion/duplication disorders”; *Recipient of Fellows’ Research Day Award for Outstanding Basic Science Research March 2007 – Invited Seminar Speaker, Cross-Disciplinary Dental Science Seminar, University of Washington: “Structural variation in the human genome: polymorphism and disease” October 2006 – Medical Genetics Seminar, University of Washington, Seattle, WA: “Genomic Disease in Pediatrics: A screen for novel microdeletion/duplication disorders”

Heather C. Mefford, MD, PhD 11 January, 2013

ABSTRACTS

December 2011 – American Epilepsy Society Annual Meeting, Baltimore, MD: “Whole exome sequencing in Dravet syndrome: Novel candidate genes, genetic heterogeneity” (15-min platform presentation) November 2011 – International Congress of Human Genetics / American Society of Human Genetics Meeting, Montreal, Canada: “Further delineation of the 15q24 microdeletion syndrome” (15- min platform presentation) November 2010 – American Society of Human Genetics Annual Meeting, Washington, DC: “Array CGH reveals pathogenic copy number changes in ~10% of patients with severe epilepsy syndromes” (15-min platform presentation). October 2009 - American Society of Human Genetics Annual Meeting, Honolulu, HI: “Whole-genome array CGH in 500 patients with epilepsy identifies novel susceptibility loci” (15-min platform presentation) November 2008 – American Society of Human Genetics Annual Meeting, Philadelphia, PA: “Recurrent 1q21.1 microdeletions associated with variable disease phenotypes” (15-min platform presentation) October 2007 – American Society of Human Genetics Annual Meeting, San Diego, CA: “Recurrent Rearrangements of 17q12 are involved in renal disease, diabetes and epilepsy” (15-min platform presentation) October 2000 – American Society of Human Genetics Annual Meeting: “Duplication history of a subtelomeric block containing an expressed olfactory receptor gene” (15-min oral presentation)

AWARDS & ACCOMPLISHMENTS

Society for Pediatric Research Young Investigator Award, 2013 Young Investigator Travel Award, 2011 American Epilepsy Society annual meeting Elected member, Society for Pediatric Research, 2010 Recipient, William K. Bowes, Jr. Award in Medical Genetics, 2009 Recipient, Burroughs Wellcome Fund Career Award for Medical Scientists, 2008 Finalist, American Society of Human Genetics Trainee Awards Competition – 2008 Annual Meeting, Postdoctoral Clinical Research Category Fellows’ Research Day Award for Outstanding Presentation – April 2008, Children’s Hospital and Regional Medical Center Fellows’ Research Day ScienceCareers Profile – One of three geneticists profiled in the December, 2007, article “Young Geneticists Making a Difference” in the Breakthrough of the Year issue of ScienceCareers (http://sciencecareers.sciencemag.org) Fellows’ Research Day Award for Outstanding Presentation – April 2007, Children’s Hospital and Regional Medical Center Fellows’ Research Day 2002 Paul Allen Fellow - selected as one of eight MD/PhD students to receive this fellowship Poncin Fellow, 1998-2001 – I was awarded this three-year competitive fellowship for research by an MD/PhD student, which provided funding for my graduate school training.

Heather C. Mefford, MD, PhD 12 January, 2013

Shepley Award, Outstanding Senior, Washington University, 1994 – I was selected as one of seven seniors to be recognized for contribution to the university community during my four years at Washington University. Dow Chemical Outstanding Junior in Chemical Engineering, 1993 Langsdorf Fellow, 1990-1994 – I was awarded a full, four-year scholarship to study engineering at Washington University.

TEACHING EXPERIENCE

Invited guest lecturer, Neonatology Board Review course, University of Washington (2012): “Genetics for Neonatologists” Course Chair, HuBio 554 Genetic Medicine (2012-present) – course chair for 2nd-year medical school course; coordinate 15 lectures, 7 small group case studies, examinations. Introduction to Human and Medical Genetics (2010) – 1-hr lecture to fellows, residents, graduate students entitled “Copy number variation and array CGH analysis” Invited guest lecturer, Pathology 516 (May 2008)– 1-hr invited lecture to graduate students: “Copy Number Variation in the Human Genome: Polymorphism and Disease” Invited guest lecturer, CONJ512 “Introduction to Human and Medical Genetics” (Jan 2008) – prepared 1- hr lecture regarding “Microarray Analysis in Research and Clinical Genetics” Instructor, Medical Genetics, 2007 – 2011 (yearly) – facilitate small group sessions throughout 8-week course for second-year medical students; also participated in rewriting cases for course. TA, Physical Exam, 2001 – was in charge of group of 4 first-year medical students; supervised weekly sessions in which students learned various aspects of the physical exam. Supervisor, undergraduate research project, 2000 – designed and supervised a sequence analysis and comparison project for an undergraduate in molecular biology. TA, Cancer Genetics Course, 1999 – assisted in development of this new upper-level undergraduate course; prepared and gave 2 lectures. TA, Introductory Genetics, 1999 – led small group discussion and problem-solving sessions; prepared and gave one lecture to this large undergraduate class. Supervisor, undergraduate research project, 1998 – designed a breast cancer linkage mapping project for an undergraduate in genetics, supervised and evaluated her research. TA, Head & Neck Anatomy, 1997 TA, Anatomy & Embryology, 1996

FUNDING

Current funding 1007607.01 Career Award for Medical Scientists (Mefford, PI) Burroughs Wellcome Fund “Novel Genomic Rearrangements in Developmental Pediatric Disorders” $140,000 1/18/2010 – 8/31/2016

1R01 NS069605-02 (Mefford, PI)

Heather C. Mefford, MD, PhD 13 January, 2013

NIH / NINDS “A Genomic Approach to Epilepsy” $310,377 2/15/2010 – 1/31/2014

1U01NS077303-01 (PIs - Goldstein, Eichler, Mefford, Heinzen, Shianna, Epstein) NIH/NINDS “3 of 7 Epi4K: Gene discovery in 4,000 epilepsy genomes: Sequencing, Biostatistics & Bioinformatics Core” $2,281,295 9/30/2011 – 9/30/2016

U01NS077364-01 (PIs - Sherr, Mefford, Scheffer) NIH/NINDS “4 of 7 Epi4K: Gene discovery in 4,000 epilepsy genome: Epileptic Encephalopathies” $190,460 9/30/2011-9/30/2014

1U01NS077275-01 (PIs - Eichler, Mefford) NIH/NINDS “7 of 7 Epi4K: Gene discovery in 4,000 epilepsy genomes: CNV detection” $411,187 9/30/2011-9/30/2016

SFARI 198677 (Bernier, PI) Simon’s Foundation “Simons VIP” $600,000 8/1/2011-7/31/2012 Role: Co-investigator

R24 HD000836-47 (Glass, PI) “Laboratory of Developmental Biology” $400,569 07/01/2011-1/31/2016 Role: Co-investigator

Completed funding K12 HD043376 (Stapleton, PI) University of Washington Child Health Research Center (CHRC) $70,000 direct costs 8/1/08 – 7/31/09

K08 HD060067-01 (Mefford, PI) NIH, NICHD

Heather C. Mefford, MD, PhD 14 January, 2013

$100,000 direct costs per year, 5 years 8/1/09 – 2/14/10 (terminated early due to R01 funding) OTHER ACTIVITIES

National Responsibilities Invited reviewer for abstracts submitted to 2011 International Congress of Human Genetics Meeting Invited moderator, 2011 International Congress of Human Genetics Meeting Invited moderator, 2010 American Society of Human Genetics Meeting

Ad hoc reviewer New England Journal of Medicine European Journal of Human Genetics American Journal of Human Genetics American Journal of Medical Genetics Nature Genetics Clinical Genetics PLoS Genetics Genetics in Medicine Journal of Medical Genetics Annals of Neurology European Journal of Medical Genetics

Heather C. Mefford, MD, PhD 15 January, 2013 Prof. Hitoshi Okazawa

Professor, Pathophysiology and Neuropathology, Graduate School of Medical and Dental Sciences, Medical Research Institute, Tokyo Medical and Dental University

Neurologist and Neuroscientist. MD, PhD, The University of Tokyo, School of Medicine

After becoming a staff member at theDepartment of Neurology of The University of Tokyo, Prof. Okazawa obtained his PhD degree in 1991 upon discovering Oct-3/4:Oct-4:Oct-3 (Cell1990; EMBO J 1991), which is now well known as a key regulator of ES cells and is the most important factor for generating iPS cell. After working at the Max Planck Institute for Psychiatry as a staff scientist, Prof. Okazawa was made an assistant professor (Department of Neurology, The University of Tokyo) and started researching polyglutamine diseases. His research scope expanded to include mental retardation and microcephaly, after the discovery of polyglutamine binding protein-1 (PQBP1) (Hum Mol Genet 1999; Neuron 2002). In 2001 he became the Head, Tokyo Metropolitan Institute for Neuroscience; in 2003, he was named Professor and Chair, Neuropathology, Tokyo Medical and Dental University.

INGRID E SCHEFFER AO

CURRICULUM VITAE

Appointments: Professor, The University of Melbourne Senior Research Fellow, The Florey Institute of Neuroscience and Mental Health Address: Austin Health Level 2, Melbourne Brain Centre, 245 Burgundy Street Heidelberg, Victoria 3084 Telephone: (613) 9035 7112 Fax: (613) 9035 7307 E-mail: [email protected] Home address: 3 Leura Grove Hawthorn East, Victoria, Australia 3123 Telephone: (613) 9882 2454 Citizenship: Australian Children: Two Gender: Female

Academic Qualifications PhD The University of Melbourne, 1998 “Inherited epilepsy syndromes in multiplex families” FRACP Royal Australasian College of Physicians, 1992 MB BS Monash University, 1983

Postgraduate Fellowships, Honours and Awards 2014 Officer of the Order of Australia (AO) Awarded for distinguished service to medicine as a clinician, academic and mentor, and for her research identifying new epilepsy syndromes and genes 2014 Australian Academy of Science Fellowship (FAA) Elected as a Fellow for paradigm-shifting research into the genetic causes of epilepsy and defining new epilepsy syndromes. 2014 Founding Fellow and Vice-President of the Australian Academy of Health and Medical Sciences (FAHMS) 2014 Bethlehem Griffiths Research Foundation Medal In recognition of outstanding leadership and international contribution to medical research 2012 L’Oréal-UNESCO For Women in Science Laureate for the Asia-Pacific region One of five international laureates recognised for making outstanding advances in scientific research. 2013 GlaxoSmithKline Award for Research Excellence National award for outstanding research: For helping to transform the diagnosis of epilepsy Ingrid Scheffer 2

2013 Ambassador for Epilepsy Award For outstanding international contribution to epilepsy. International League Against Epilepsy, Montreal, Canada 2013 Emil Becker Prize For outstanding contribution to paediatric neurology. Gesellschaft Neuropädiatrie (German speaking society for neuropaediatrics), Austria 2013 Australian Neuroscience Medallion Australian Neuroscience Society 2013 Mervyn J Eadie Award To honour a significant contribution to neuroscience research. Australian and New Zealand Association of Neurologists 2013 Eccles Lectureship Australian Neuroscience Society and Australian Neurosurgical Society 2012 The Woodward Medal in Science and Technology The University Of Melbourne 2012 Austin Medical Research Foundation Distinguished Scientist Award Austin Health 2012 Tracy Maund Oration Royal Women’s Hospital Medical Society, Melbourne 2012 Melbourne Top 100 Most Influential People, The Age Magazine 2012 Paul Harris Fellow, Rotary International 2011-5 NHMRC Practitioner Fellowship 2011 Jacobsen Lecturer Royal Victoria Infirmary, Newcastle, UK 2011 Osselton Lecturer North East Epilepsy Research Network Annual meeting, UK 2011 Tibbles Lecturer 46th Annual Congress of the Canadian Neurological Sciences Federation 2011 Highest ranked NHMRC Program Grant 2011-2015: Chief Investigator 2009 RACP Eric Susman Prize This prize is awarded annually to a fellow of the Royal Australasian College of Physicians for the most outstanding contribution to the knowledge of any branch of internal medicine. 2009 Professor R Gulati Oration Postgraduate Institute of Medical Education and Research, Chandigarh, India October 30 2009. 2009 Mackeith Lecturer British Paediatric Neurology Association, Birmingham, UK, January 29-30, 2009. 2008 Henry Dunn lecturer Vancouver General Hospital, Vancouver, Canada, December 2008. 2007 American Epilepsy Society Research Recognition Award for Clinical Research for 2007 This award recognises an outstanding contribution to clinical research in epilepsy at an international level. Ingrid Scheffer 3

2001–05 NHMRC Practitioner Fellowship Inaugural career research fellowship (of six awarded around Australia) for outstanding clinician researcher allowing 50% research and 50% clinical commitment over five years. 2003 National Association of Research Fellows of NHMRC Post-Doctoral Investigator Award This award recognises outstanding independent research achievement during the first five years after receiving a research doctorate. 1999 Chancellor’s Prize, The University of Melbourne Harbison-Higinbotham Research Scholarship, The University of Melbourne The Chancellor’s Prize and the Harbison-Higinbotham Research Scholarship were awarded by the Chancellor of The University of Melbourne for excellence in the PhD thesis. This thesis was recognised as the most outstanding PhD in the Medical Sciences in 1998. 1998 Commendation for Premier's Award for Medical Research This award was one of four awarded by the Premier of Victoria in recognition of an outstanding contribution to medical research during a PhD thesis. 1993 American Epilepsy Society Junior Investigator Award, Miami, USA 1992 Ciba-Geigy Epilepsy Fellowship, Austin Hospital, Melbourne 1992–94 NHMRC Medical Postgraduate Scholar The University of Melbourne, Austin Hospital, Melbourne

Current Appointments

Academic Appointments 2011 – Senior Principal Research Fellow The Florey Institute of Neuroscience and Mental Health 2005 – Professor, Chair of Paediatric Neurology Research Departments of Medicine and Paediatrics, The University of Melbourne Austin Health and Royal Children’s Hospital

Clinical Appointments Director of Paediatrics, Austin Health Paediatric Neurologist and Epileptologist Director, Children’s Epilepsy Program, Austin Health, Heidelberg, Victoria Department of Neurology, Royal Children's Hospital, Parkville, Victoria Honorary Fellow of Genetic Health Services Honorary Research Fellow, Murdoch Children’s Research Institute

Previous Appointments Academic Appointments 2001–05 NHMRC Practitioner Fellow, Associate Professor, The University of Melbourne 1999–01 Senior Lecturer, The University of Melbourne 1998–00 NHMRC Senior Research Officer, The University of Melbourne 1995–97 NHMRC Research Officer, The University of Melbourne 1991–94 NHMRC Medical Postgraduate Scholar, The University of Melbourne Ingrid Scheffer 4

Clinical Appointments 1995– Paediatric Neurologist, Austin and Repatriation Medical Centre 1994– Paediatric Neurologist and Epileptologist, Monash Medical Centre 1994–05 Director of Epilepsy Services, Monash Medical Centre 1993– Paediatric Neurologist, Royal Children’s Hospital 1991–94 Epilepsy Fellow, Austin Hospital, Melbourne 1990 Adult Neurology SHO, SE Thames Regional Neurological Unit, London 1989–90 Paediatric Neurology Registrar, Hospital for Sick Children, London 1985–88 General Paediatric Registrar/HMO, Royal Children's Hospital, Melbourne

Citation indices

Web of Science Google Scholar h-index 57 73 Total citations 13,578 20,377

Publications

Frequently Cited Publications (68 papers with > 50 citations) Number of Citations 682 Berg AT, Berkovic SF, Brodie MJ, Buchhalter K, Cross JH, van Emde Boas W, Engel J, French K, Glauser TA, Mathern GW, Moshé SL, Nordli D, Plouin P, Scheffer IE. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009. Epilepsia 2010;51:676-85. Epub 2010 Feb 26 (IF 4). 674 Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11:201-203 (Impact Factor (IF) 35.5). 658 Wallace RH, Wang DW, Singh R, Scheffer IE, George AL, Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC. Febrile seizures and generalized epilepsy associated with a mutation in the sodium channel beta 1 subunit gene SCN1B. Nat Genet 1998;19:366-370 (IF 35.5). 626 Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signalling protein. Cell 1998;92:63- 72 (IF 31.9). 454 Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland G, Mulley JC, Scheffer IE, Berkovic SF. Mutant GABAA receptor gamma-2 subunit mutation in childhood absence epilepsy and febrile seizures. Nat Genet 2001;28:49-52 (IF 35.5). 436 Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 1998;21:1315-1325 (IF 15.7). 396 Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-490 (IF 9.9). Ingrid Scheffer 5

317 Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann E, Andermann F, Desbiens R, Keene D, Cendes F, Manson JI, Constantinou JEC, McIntosh A, Berkovic SF. Autosomal dominant nocturnal frontal lobe epilepsy: A distinctive clinical disorder. Brain 1995;118:61-73 (IF 9.9). 265 Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Gedeon AK, Scheffer IE, Turner G, Partington M, Frints S, Fryns JP, Sutherland GR, Mulley JC, Gécz J. Mutations of the human ortholog of aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002;30:441-445 (IF 35.5). 250 Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, Richards MC, Williams DA, Mulley JC, Berkovic SF, Scheffer IE, Petrou S. Truncation of the GABAA receptor γ2 subunit is associated with generalized epilepsy with febrile seizures plus. Am J Hum Genet 2002;70:530-536 (IF 11.2). 247 Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Localisation of a gene for autosomal dominant nocturnal frontal lobe epilepsy to 20q13.2. Nat Genet 1995;10:117-118 (IF 35.5). 229 Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann F, Andermann E, Desbiens R, Cendes F, Manson JI, Berkovic SF. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 1994;343:515-17 (IF 38.3). 227 Eksioglu YZ, Scheffer IE, Cardenas P, Knoll J, DiMario F, Ramsby G, Berg M, Kamuro K, Berkovic SF, Duyk GM, Parisi J, Huttenlocher PR, Walsh C. Periventricular heterotopias: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron 1996;16:77-87 (IF 15.7). 196 Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL, Mulley JC, Berkovic SF. Neuronal sodium-channel alpha 1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 2001;68:859-865 (IF 11.2). 188 Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A, The infantile epileptic encephalopathy referral consortium, Sutherland G, Berkovic SF, Mulley JC, Scheffer IE. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007;130:843–852 (IF 9.9). 175 Phillips HA, Favre I, Kirkpatrick M, Zuberi SM, Goudie D, Heron SE, Scheffer IE, Sutherland GR, Berkovic SF, Bertrand D, Mulley JC. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet 2001;68:225-231 (IF 11.2). 172 Singh R, Scheffer IE, Crossland K, Berkovic SF. Generalised epilepsy with febrile seizures plus (GEFS+): a common, childhood onset, genetic epilepsy syndrome. Ann Neurol 1999;45:75-81 (IF 11.1). 172 Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. SCN1A mutations and epilepsy. Hum Mutat 2005;25:535-542 (review) (IF 5.6). 156 Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC. GABRD encoding a protein for extra or perisynaptic GABAA receptors is a susceptibility locus for generalised epilepsies. Hum Mol Genet 2004;13:1315-9 (IF 7.6). 153 Phillips HA, Scheffer IE, Crossland KM, Bhatia KP, Fish DR, Marsden CD, Howell SJL, Stephenson JBP, Tolmie J, Plazzi G, Eeg-Olofsson O, Singh R, Lopes-Cendes I, Andermann E, Andermann F, Berkovic SF, Mulley JC. Autosomal dominant nocturnal frontal lobe epilepsy: genetic heterogeneity and a probable second locus at 15q24. Am J Hum Genet 1998;63:1108-1116 (IF 11.2). Ingrid Scheffer 6

152 Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, Shevell M, Mercho S, Seni M- H, Guiot M-C, Mulley JC, Berkovic SF, Scheffer IE. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 2002;360:851-852 (Erratum: Lancet 2002;360:1520) (IF 39.6). 150 Ross SA, Wong JYF, Clifford JJ, Kinsella A, Massalas JS, Horne MK, Scheffer IE, Kola I, Waddington JL, Berkovic SF, Drago J. Phenotypic characterization of an alpha 4 neuronal nicotinic acetylcholine subunit knockout mouse. J Neurosci 2000;20:6431-6441 (IF 7.1). 133 Sheen VL, Dixon P, Hong S, Fox JW, Kinton L, Sisodiya SM, Duncan JS, Seni HM, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, Berg M, Kuzniecky R, Cole A, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida G, Berkovic SF, Andermann E, Dobyns WB, Wood NW, Walsh CA. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopias in males as well as in females. Hum Mol Genet 2001;10:1775-1783 (IF 7.6). 130 Singh R, Andermann E, Whitehouse WPA, Harvey S, Keene DL, Seni M-H, Crossland KM, Andermann F, Berkovic SF, Scheffer IE. Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia 2001;42:837-844 (IF 4). 124 Helbig I, Scheffer IE, Mulley JC, Berkovic SF. Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol 2008;7:231-45 (invited review) (IF 23.4). 119 Tan NCK, Heron SE, Scheffer IE, Pelekanos JT, McMahon JM, Vears DF, Mulley JC, Berkovic SF. Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy. Neurology 2004;63:1090-2 (IF 8.3). 119 Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol 2004;55:550-7 (IF 11). 117 Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O’Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn A, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim H-G, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 2008;40:776-81. Epub 2008 May 11 (IF 35.5). 114 Scheffer IE, Jones L, Pozzebon M, Howell RA, Saling MM, Berkovic SF. Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation. Ann Neurol 1995;38:633-642 (IF 11). 113 Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andemann E, Mulley JC, Berkovic SF, Scheffer IE. Sodium channel alpha-1 subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology 2003;61:765-769 (IF 8.3). 113 Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, Valenti MP, Roeckel-Trevisiol N, Jamali S, Beclin C, Seegmuller C, Metz-Lutz MN, Lemainque A, Delepine M, Caloustian C, Martin Ade S, Bruneau N, Depetris D, Mattei MG, Flori E, Robaglia-Schlupp A, Levy N, Neubauer BA, Ravid R, Marescaux C, Berkovic SF, Hirsch E, Lathrop M, Cau P, Szepetowski P. SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 2006;15:1195-207. Epub 2006 Feb 23 (IF 7.6). 112 Mulley JC, Scheffer IE, Petrou S, Berkovic SF. Channelopathies as a genetic cause of epilepsy. Curr Opin Neurol 2003;16:171-176 (invited review) (IF 5). Ingrid Scheffer 7

107 Scheffer IE, Harkin LA, Grinton BE, Dibbens LM, Turner SJ, Xu R, Jackson G, Adams J, Connellan M, Petrou S, Wellard RM, Briellmann RS, Wallace RH, Mulley JC, Berkovic SF. Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain 2007;130:100–109. Epub 2006 October 4 (IF 9.9). 106 Berkovic SF, Harkin L, McMahon JM, Pelekanos JT, Zuberi SM, Wirrell EC, Gill DS, Iona X, Mulley JM, Scheffer IE. De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol 2006;5:488-492. Epub 20 April 2006. (IF 23.4). 103 Gleeson JG, Minnerath SR, Fox JW, Allen KM, Luo RF, Hong SE, Berg MJ, Kuzniecky R, Reitnauer PJ, Borgatti R, Mira AP, Guerrini R, Holmes GL, Rooney CM, Berkovic S, Scheffer I, Cooper EC, Ricci S, Cusmai R, Crawford TO, Leroy R, Andermann E, Wheless JW, Dobyns WB, Ross ME, Walsh CA. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol 1999;45:146-153 (IF 11). 97 Strømme P, Mangelsdorf MM, Scheffer IE, Gécz J. Infantile spasms, dystonia, and other phenotypes caused by mutations in Aristaless, a novel X-linked homeobox gene. Brain Dev 2002;24:266-268 (IF 2.1). 95 Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z, EPICURE Consortium, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF. Familial and sporadic 15q13.3 microdeletions in Idiopathic Generalized Epilepsy: Precedent for Disorders with Complex Inheritance. Hum Mol Genet 2009;18:3626-31. Epub 2009 Jul 10 (IF 7.6). 93 Cavalleri GL, Weale ME, Shianna KV, Singh R, Lynch JM, Grinton B, Szoeke C, Murphy K, Kinirons P, O'rourke D, Ge D, Depondt C, Claeys KG, Pandolfo M, Gumbs C, Walley N, McNamara J, Mulley JC, Linney KN, Sheffield LJ, Radtke RA, Tate SK, Chissoe SL, Gibson RA, Hosford D, Stanton A, Graves TD, Hanna MG, Eriksson K, Kantanen AM, Kalviainen R, O'Brien TJ, Sander JW, Duncan JS, Scheffer IE, Berkovic SF, Wood NW, Doherty CP, Delanty N, Sisodiya SM, Goldstein DB. Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol 2007;6:970-80 (IF 23.4). 92 Wallace R, Scheffer IE, Parasivam G, Barnett S, Wallace GB, Sutherland G, Berkovic SF, Mulley JC. Generalised epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 2002;58:1426-1429 (IF 8.3). 86 Scheffer IE, Berkovic SF. The genetics of human epilepsy. Trends Pharmacol Sci 2003;24:428-433 (invited review) (IF 9.2). 85 Marini C, Harkin L, Wallace RH, Mulley JC, Scheffer IE, Berkovic SF. Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation. Brain 2003;126:230-240 (IF 9.9). 85 Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LRF, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE. Early onset absence epilepsy due to mutations in the glucose transporter GLUT1. Ann Neurol 2009;66:415-9 (IF 11). 79 Phillips HA, Marini C, Scheffer IE, Sutherland GR, Mulley JC, Berkovic SF. A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann Neurol 2000;48:264-267 (IF 11). 77 Hayman M, Scheffer IE, Chinvarun Y, Berlangieri SU, Berkovic SF. Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation. Neurology 1997;49:969-975 (IF 8.3). 76 Scheffer IE, Phillips HA, O'Brien CE, Saling MM, Wrennall JA, Wallace RH, Mulley JC, Berkovic SF. Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Ann Neurol 1998;44:890-899 (IF 11). Ingrid Scheffer 8

74 Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motte J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA. Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a novel gene causing neuronal migration defects in human brain. Hum Mol Genet 1997;6:555-563 (IF 7.6). 74 Berkovic SF, Mulley JC, Scheffer IE, Petrou S. Human epilepsies: Interaction of genetic and acquired factors. TINS 2006;29:391–7. Epub June 10 2006 (invited review) (IF 13.5). 68 Macdonell RAL, Jackson GD, Curatolo JM, Abbott DF, Berkovic SF, Carey LM, Syngeniotis A, Fabinyi GC, Scheffer IE. Motor cortex localisation using fMRI and transcranial magnetic stimulation. Neurology 1999;53:1462-1467 (IF 8.3). 68 Xiong L, Labuda M, Li D-S, Hudson TJ, Desbiens R, Patry G, Verret S, Langevin P, Mercho S, Seni M-H, Scheffer I, Dubeau F, Berkovic SF, Andermann F, Andermann E, Pandolfo M. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Am J Hum Genet 1999;65:1698-1710 (IF 11.2). 61 Mulley JC, Nelson P, Guerrero S, Dibbens L, Iona X, McMahon JM, Harkin L, Schouten J, Yu S, Berkovic SF, Scheffer IE. A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions of SCN1A. Neurology 2006;67:1094–5 (IF 8.3). 61 Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Mulley JC, Berkovic SF. Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families. Epilepsia 2004;45:467-78 (IF 3.9). 60 Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gecz J, Thomas PQ, Mulley JC, Berkovic SF, Dibbens LM*, Scheffer IE*. PRRT2 mutations cause Benign Familial Infantile Epilepsy and convulsions with choreoathetosis syndrome. Am J Hum Genet 2012;90:152-60. * equal senior author (IF 11.2) 59 Taylor I, Scheffer IE, Berkovic SF. Occipital epilepsies: identification of specific and newly recognized syndromes. Brain 2003;126:753-769 (IF 9.9). 59 Heron SE, Scheffer IE, Berkovic SF, Dibbens LM, Mulley JC. Channelopathies in idiopathic epilepsy. Neurotherapeutics 2007;4:295-304 (IF 5.9) 59 Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. SCN1A duplications and deletions detected in Dravet sydrome: implications for molecular diagnosis. Epilepsia 2009;50:953-6. (IF 3.9) 58 Lopes-Cendes I, Scheffer IE, Berkovic SF, Rousseau M, Andermann E, Rouleau GA. A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2. Am J Hum Genet 2000;66:698-701 (IF 11.2). 57 Steinlein OK, Stoodt J, Mulley J, Berkovic SF, Scheffer IE, Brodtkorb E. Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. Epilepsia 2000;41:529-535 (IF 3.9). 57 Scheffer IE, Zhang Y-H, Jansen FE, Dibbens L. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev 2009;31:394-400. Epub 2009 Feb 8 (invited review) (IF 2.1). 56 Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, Ricci S, Cusmai R, Wheless JW, Berkovic S, Scheffer I, Dobyns WB, Walsh CA. Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol 2000;47:265-269 (IF 11). Ingrid Scheffer 9

56 Heron SE, Phillips HA, Mulley JC, Mazarib A, Neufeld MY, Berkovic SF, Scheffer IE. Genetic Variation of CACNA1H in Idiopathic Generalized Epilepsy. Ann Neurol 2004;55:595-596 (IF 11). 55 Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 2010;75:432-40. Epub 2010 Jun 23 (IF 8.3). 54 Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Stromme P, Berkovic SF, Gecz J, Mulley J. X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. Neurology 2002;59:348-356 (IF 8.3). 53 Singh R, Gardner MRJ, Crossland KM, Scheffer IE, Berkovic, SF. Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters. Epilepsia 2002;43:127-140 (IF 3.9) 53 Derry, CP, Davey, M, Johns, M, Kron, K, Glencross, D, Marini, C, Scheffer, IE, Berkovic, SF. Distinguishing sleep disorders from seizures - Diagnosing bumps in the night. Arch Neur (JAMA Neurol) 2006;63:705-709 (IF 7.5) 51 Berg A, Scheffer IE. New concepts in classification of the epilepsies: entering the 21st century. Epilepsia 2011;52:1058-62 (IF 3.9) 50 Berkovic SF, MD, Izzillo P, McMahon JM, Harkin LA, McIntosh AM, Phillips HA, Briellmann RS, Wallace RH, Mazarib A, Neufeld MY, Korczyn AD, Scheffer IE, Mulley JC. LGI1 mutations in temporal lobe epilepsies. Neurology 2004;62:1115-1119 (IF 8.3). 50 Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium, Nicole S, Gurrieri F, Neri G, de Vries B, Koelewijn S, Kamphorst J, Geilenkirchen M, Pelzer N, Laan L, Haan J, Ferrari M, van den Maagdenberg A; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium, Zucca C, Bassi MT, Franchini F, Vavassori R, Giannotta M, Gobbi G, Granata T, Nardocci N, De Grandis E, Veneselli E, Stagnaro M, Gurrieri F, Neri G, Vigevano F; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium, Panagiotakaki E, Oechsler C, Arzimanoglou A, Nicole S, Giannotta M, Gobbi G, Ninan M, Neville B, Ebinger F, Fons C, Campistol J, Kemlink D, Nevsimalova S, Laan L, Peeters-Scholte C, van den Maagdenberg A, Casaer P, Casari G, Sange G, Spiel G, Boneschi FM, Zucca C, Bassi MT, Schyns T, Crawley F, Poncelin D, Vavassori R, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29. (IF 35.5)

Complete List of Publications Refereed Journal Articles 2014

1. Coe BP, Witherspoon K, Rosenfeld JA, van Bon BWM, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LELM, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MRF, Torchia BS, Peeters H, O’Roak BJ, , Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BBA, Romano C, Eichler EE. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet (online 14 Sept 2014). Ingrid Scheffer 10

2. International League Against Epilepsy Consortium on Complex Epilepsies (includes Scheffer IE). Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. Lancet Neurol (in press, accepted 15 July 2015). 3. Dalic L, Mullen SA, Perez ER, Scheffer IE. Lamotrigine can be beneficial in patients with Dravet syndrome. Case report. Dev Med Child Neurol (in press, accepted 10 Aug 2014). 4. Bagnall R, Crompton D, Cutmore C, Regan B, Berkovic S, Scheffer I, Semsarian C. Genetic analysis of PHOX2B in Sudden Unexplained Death in Epilepsy (SUDEP) cases. Neurology 2014 Aug 1. pii: 10.1212/WNL.0000000000000781. [Epub ahead of print] 5. Vadlamudi L, Milne RL, Lawrence K, Heron SE, Eckhaus J, Keay D, Connellan M, Torn-Broers Y, Howell RA, Mulley JC, Scheffer IE, Dibbens LM, Hopper JL, Berkovic SF. Genetics of Epilepsy: The Testimony of Twins in the Molecular Era. Neurology 2014 Aug 8. pii: 10.1212/WNL.0000000000000790. [Epub ahead of print]. 6. Jamuar AA, Lam AN, Kircher M, D’Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattala S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Change BS, Bamshand M, Nickeron DA, Shendure J, Poduri A, Yu TW, Walsh CA. Somatic Mutations in Cerebral Cortical Malformations. N Eng J Med (in press, accepted 6 June 2014). 7. Oliver KL, Lukic V, Thorne NP, Berkovic SF, Scheffer IE, Bahlo M. Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes. Plos One 2014 Jul 9;9(7):e102079 doi: 10.1371/journal.pone.0102079. eCollection 2014. 8. Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HHM, Regan BM, Feucht M, Steinbock H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Mannik K, Toliat MR, The 16p11.2 European Consortium, Lerche H, Nurnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS, The EPICURE Consortium, The EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. 16p11.2 600 kb duplications confer risk for typical and atypical rolandic epilepsy. Hum Mol Genet 2014 June 16 [Epub ahead of print]. 9. Reid CA, Leaw B, Richards KL, Richardson R, Wimmer V, Yu C, Hill-Yardin EL, Lerche H, Scheffer IE, Berkovic SF, Petrou S. Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome. Brain 2014 Jun;137(Pt 6):1701-15. doi: 10.1093/brain/awu077. Epub 2014 Apr 17. 10. Fisher RS, Acevedo C, Arzimanoglou A, Bogacz A, Cross JH, Elger CE, Engel J Jr, Forsgren L, French JA, Glynn M, Hesdorffer DC, Lee BI, Mathern GW, Moshé SL, Perucca E, Scheffer IE, Tomson T, Watanabe M, Wiebe S. ILAE Official Report: A practical clinical definition of epilepsy. Epilepsia 2014 Apr;55(4):475-82. doi: 10.1111/epi.12550. Epub 2014 Apr 14. 11. Puskarjov M, Seja P, Heron SE, Williams TC, Ahmad F, Iona X, Oliver KL, Grinton BE, Vutskits L, Scheffer IE, Petrou S, Blaesse P, Dibbens LM, Berkovic SF, Kaila K. A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation. EMBO Rep 2014 Jun;15(6):723-9. doi: 10.1002/embr.201438749. Epub 2014 Mar 24. 12. Milligan CJ, Li M, Gazina EV, Heron SE, Nair U, Trager C, Reid CA, Venkat A, Younkin DP, Dlugos DJ, Petrovski S, Goldstein DB, Dibbens LM, Scheffer IE, Berkovic SF, Petrou S. KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Ann Neurol 2014 Apr;75(4):581-90. doi: 10.1002/ana.24128. Epub 2014 Apr 14. 13. Scheffer IE, Heron SE, Regan BM, Mandelstam S, Crompton DE, Hodgson BL, Licchetta L, Provini F, Bisulli F, Vadlamudi L, Gecz J, Connelly A, Tinuper P, Ricos MG, Berkovic SF, Dibbens LM. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol 2014 May;75(5):782-7. doi: 10.1002/ana.24126. Epub 2014 Apr 14. Ingrid Scheffer 11

14. Hildebrand MS, Damiano JA, Mullen SA, Bellows ST, Oliver KL, Dahl H-HM, Scheffer IE, Berkovic SF. Glucose metabolism transporters and epilepsy: only GLUT1 has an established role. Epilepsia 2014 Feb;55(2):e18-21. doi: 10.1111/epi.12519. Epub 2014 Jan 31. 15. Leventer RJ, Jansen FE, Mandelstam SA, Ho A, Mohamed I, Sarnat HB, Kato M, Fukasawa T, Saitsu H, Mastumoto N, Itoh M, Kalnins RM, Chow CW, Harvey AS, Jackson GD, Crino PB, Berkovic SF, Scheffer IE. Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility. Epilepsia 2014 Mar;55(3):e22-6. doi: 10.1111/epi.12533. Epub 2014 Feb 6. 16. Kim YO, Bellows S, McMahon JM, Iona X, Damiano J, Dibbens L, Kelley K, Gill D, Cross JH, Berkovic SF, Scheffer IE. Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline. Dev Med Child Neurol 2014 Jan;56(1):85-90. doi: 10.1111/dmcn.12322. Epub 2013 Oct 25. 17. Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O’Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Gazina EV, Suls A, Shendure J, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE#, Mefford HC#. GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology 2014 Apr 8;82(14):1245-53. doi: 10.1212/WNL.0000000000000291. Epub 2014 Mar 12. # corresponding author 18. Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill G, Copley R, Rimmer A, Kronengold J, Fleming M, Brown MR, Hudspith KA, Barcia G, Broxholme J, Kanapin A, Cazier J-B, Kinoshita T, Nabbout R, The WGS600 Consortium, Bentley D, McVean G, Heavin S, Yendle S, Zaiwalla Z, McShane T, Scheffer IE, Mefford H, Shears D, Stewart H, Blair E, Donnelly P, Kaczmarek LK, Taylor JC. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet 2014 Jun 15;23(12):3200-11. doi: 10.1093/hmg/ddu030. Epub 2014 Jan 25. 19. Orhan G, Bock M, Schepers D, Ilina EI, Reichel SN, Leoffler H, Jezutkovic N, Weckhuysen S, Mandelstam S, Suls A, Danker T, Guenther E, Scheffer IE, De Jonghe P, Lerche P, Maljevic S. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Ann Neurol 2014 Mar;75(3):382-94. doi: 10.1002/ana.24080. Epub 2014 Mar 18. 20. Speed D, Hoggart C, Petrovski S, Tachmazidou I, Jorgensen A, De Iorio M, Todaro M, Coffey A, De T, Smith D, Smith PE, Jackson M, Cooper P, Kellett M, Howell S, Newton M, Yerra R, Tan M, French C, Reuber M, Sills GE, Chadwick D, Pirmohamed M, Bentley D, Scheffer I, Berkovic S, Balding D, Marson A, Palotie A, O’Brien T, Johnson MR. A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy. Hum Mol Genet 2014 Jan 1;23(1):247-58. doi: 10.1093/hmg/ddt403. Epub 2013 Aug 19. 2013 21. Poduri A, Heinzen EL, Chitsazzadeh V, Lasorsa FM, Elhosary PC, Lacoursiere CM, Martin E, Yuskaitis CJ, Hill RS, Atabay KD, Barry B, Partlow JN, Bashiri FA, Zeidan RM, Elmalik SA, Kabiraj MMU, Kothare S, Stödberg T, Mctague A, Kurian MA, Scheffer IE, Barkovich AJ, Palmieri F, Salih MA, Walsh CA. SLC25A22 Is a novel gene for Migrating Partial Seizures in Infancy. Ann Neurol 2013 Dec;74(6):873- 82. DOI: 10.1002/ana.23998. Epub 2013 Oct 17. 22. Sadleir LG, Agher D, Chabrol E, Elkouby L, Leguern E, Paterson SJ, Harty R, Bellows ST, Berkovic SF, Baulac S, Scheffer IE. Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations. Epilepsy Res 2013 Dec;107(3):311-7. doi: 10.1016/j.eplepsyres.2013.09.008. Epub 2013 Oct 8. 23. Widdess-Walsh P, Dlugos D, Fahlstrom R, Joshi S, Shellhaas R, Boro A, Sullivan J, Geller E; the EPGP Investigators. Lennox-Gastaut syndrome of unknown cause: Phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project. Epilepsia 2013;54(11):1898-904. Epub 2013 Oct 7. Ingrid Scheffer 12

24. Friedman D, Fahlstrom R, the EPGP Investigators. Racial and ethnic differences in epilepsy classification among probands in the Epilepsy Genome/Phenome Project (EPGP). Epilepsy Res 2013 Dec;107(3):306-10. doi: 10.1016/j.eplepsyres.2013.09.007. Epub 2013 Oct 1. 25. Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain 2013 Nov;136(Pt 11):3378-94. doi: 10.1093/brain/awt249. Epub 2013 Sep 20. 26. Mullen SA, Carvill GL, Bellows S, Bayly MA, Berkovic SF, Dibbens LM, Mefford HC*, Scheffer IE*. Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology 2013 Oct 22;81(17):1507-14. doi: 10.1212/WNL.0b013e3182a95829. Epub 2013 Sep 25.*equal senior author. 27. Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Moller RS, Gronborg S, Schoonjans AS, Ceulemans B, Heavin SB, Eltze C, Horvath R, Casara G, Pisano T, Giordano L, Rostasy K, Haberlandt E, Albrecht B, Bevot A, Benkel I, Syrbe S, Sheidley B, Guerrini R, Poduri A, Lemke JR, Mandelstam S, Scheffer I, Angriman M, Striano P, Marini C, Suls A, De Jonghe P. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology 2013 Nov 5;81(19):1697-703. doi: 10.1212/01.wnl.0000435296.72400.a1. Epub 2013 Oct 9. 28. Kasperavičiūtė D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal BG, Hessel EVS, Hallmann K, Hildebrand MS, Dahl HM, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK, Eriksson KJ, Kantanen A, Pandolfo M, Gruber-Sedlmayr U, Schlachter K, Reinthaler EM, Stogmann E, Zimprich F, Théâtre E, Smith C, O’Brien TJ, Tan KM, Petrovski S, Robbiano A, Paravidino R, Zara F, Striano P, Sperling MR, Buono RJ, Hakonarson H, Chaves J, Costa PP, Silva BM, da Silva AM, de Graan PNE, Koeleman BPC, Becker A, Schoch S, von Lehe M, Reif PS, Rosenow F, Becker F, Weber Y, Lerche H, Rössler K, Buchfelder M, Hamer HM, Kobow K, Coras R, Blumcke I, Scheffer IE, Berkovic SF, Weale ME, Delanty N, Depondt C, Cavalleri GL, Kunz WS, Sisodiya SM. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain 2013 Oct 136(10):3140-50 Epub 2013 Sep 6. 29. Epi4K Consortium, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ; Epilepsy Phenome/Genome Project, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR. De novo mutations in epileptic encephalopathies. Nature 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11. 30. EPGP Collaborative. The epilepsy phenome/genome project. Clin Trials 2013 Aug;10(4):568-86. doi: 10.1177/1740774513484392. Epub 2013 Jul 1. 31. Carvill GL, Regan BM, Yendle SC, O’Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai M-H, Webster R, Ouvrier R, Damiano J, Berkovic SF, Shendure J, Hildebrand M, Szepetowski P, Mefford HC*, Scheffer IE*. GRIN2A mutations cause epilepsy- aphasia spectrum disorders. Nat Genet 2013 Aug 28;45(9):1073-6. doi: 10.1038/ng.2727. Epub 2013 Aug 11. *equal senior author. Ingrid Scheffer 13

32. Carvill, GL, Heavin SB, Yendle SC, McMahon JM, O’Roak BJ, Cook J, Khan A, O’Dorschner M, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AME, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE#, Mefford HC#. Targeted resequencing in epileptic encephalopathies identifies recurrent de novo mutations in CHD2 and SYNGAP1. Nat Genet 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26 # corresponding author 33. Mulley JC, Hodgson B, McMahon JM, Iona X, Bellows S, Mullen SA, Farrell K, Mackay M, Sadleir L, Bleasel A, Gill D, Webster R, Wirrell EC, Harbord M, Sisodiya S, Andermann E, Kivity S, Berkovic SF, Scheffer IE, Dibbens LM. Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. Epilepsia 2013 Sep;54(9):e122-6. doi: 10.1111/epi.12323. Epub 2013 Jul 29. 34. Shain C, Ramgopal S, Fallil Z, Parulkar I, Alongi R, Knowlton R, Poduri A; EPGP Investigators. Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project. Epilepsia 2013 Aug;54(8): 1368-1375. 10.1111/epi.12238. Epub 2013 Jun 10. 35. Kim YO, Korff CM, Villaluz MM, Suls A, Weckhuysen S, De Jonghe P, Scheffer IE. Head stereotypies in STXBP1 encephalopathy. Dev Med Child Neurol 2013 Aug;55(8):769-72. doi: 10.1111/dmcn.12197. Epub 2013 Jun 13. 36. Tsai MH, Pardoe HR, Perchyonok Y, Fitt GJ, Scheffer IE, Jackson GD, Berkovic SF. Etiology of hippocampal sclerosis: Evidence for a predisposing familial morphological anomaly. Neurology 2013 Jul 9;81(2):144-9. doi: 10.1212/WNL.0b013e31829a33ac. Epub 2013 Jun 7. 37. Bassuk AG, Geraghty E, Wu S, Mullen SA, Berkovic SF, Scheffer IE, Mefford HC. Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalised epilepsy. Am J Med Genet A 2013 Jul;161(7):1722-5. Epub 2013 May 17. 38. Turner SJ, Hildebrand MS, Block S, Damiano J, Fahey M, Reilly S, Bahlo M, Morgan AT*, Scheffer IE*. Small intragenic deletion of FOXP2 associated with childhood apraxia of speech and dysarthria. Am J Med Genet A 2013 Sep;161(9):2321-6. doi: 10.1002/ajmg.a.36055. Epub 2013 Aug 5. *equal senior author. 39. Hitomi Y, Heinzen EL, Donatello S, Dahl HH, Damiano JA, McMahon JM, Berkovic SF, Scheffer IE, Legros B, Rai M, Weckhuysen S, Suls A, De Jonghe P, Pandolfo M, Goldstein DB, Van Bogaert P, Depondt C. Mutations in TNK2 in severe autosomal recessive infantile-onset epilepsy. Ann Neurol 2013 2013 Sep;74(3):496-501. doi: 10.1002/ana.23934. Epub 2013 Sep 4. 40. McTague A, Appleton R, Avula S, Cross H, King M, Jacques T, Bhate S, Cronin A, Curran A, Desurkar A, Farrell M, Hughes E, Jefferson R, Lascelles K, Livingston J, Meyer E, McLellan A, Poduri A, Scheffer I, Spinty S, Kurian M, Kneen R. Migrating Partial Seizures of Infancy (MPSI): Expansion of the Electroclinical, Radiological and Pathological Disease Spectrum. Brain 2013 May;136(Pt 5):1578-91. doi: 10.1093/brain/awt073. Epub 2013 Apr 18. 41. Nesbitt G, McKenna K, Mays V, Carpenter A, Miller K, Williams M, EPGP Investigators. The epilepsy phenome/genome project (EPGP) informatics platform. Int J Med Inform 2013 Apr;82(4):248-59. Epub 2012 May 10. 42. Klein KM, Bromhead CJ, Smith KR, O’Callaghan CJ, Corcoran SJ, Heron SE, Iona X, Hodgson BL, McMahon JM, Lawrence KM, Scheffer IE, Dibbens LM, Bahlo M, Berkovic SF. Autosomal dominant vasovagal syncope: Clinical features and linkage to chromosome 15q26. Neurology 2013 Apr 16;80(16):1485-93. doi: 10.1212/WNL.0b013e31828cfad0. 43. Hirose S, Scheffer IE, Marini C, De Jonghe P, Andermann E, Goldman AM, Kauffman M, Tan NCK, Lowenstein DH, Sisodiya SM, Ottman, R, Berkovic SF. SCN1A testing for epilepsy: Application in clinical practice. Epilepsia 2013 May;54(5):946-52. doi: 10.1111/epi.12168. Epub 2013 Apr 15. Ingrid Scheffer 14

44. Heron S, Ong YS, Yendle S, McMahon J, Berkovic S, Scheffer IE, Dibbens L. Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. Epilepsia 2013 May;54(5):e86-9. doi: 10.1111/epi.12167. Epub 2013 Apr 8. 45. Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PMC, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O’Brien T, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg A MJM, Pandolfo M, Berkovic SF, Scheffer IE. Mutations in DEPDC5 cause Familial Focal Epilepsy with Variable Foci. Nat Genet 2013 May;45(5):546-51. doi: 10.1038/ng.2599. Epub 2013 Mar 31. 46. Eckhaus J, Lawrence KM, Helbig I, Bui M, Hopper, J, Vadlamudi L, Scheffer IE, Berkovic SF. Genetics of febrile seizure subtypes and syndromes: A twin study. Epilepsy Res 2013 Jul;105(1-2):103-9. doi:10.1016/j.eplepsyres.2013.02.011. Epub 2013 Mar 21 47. Taylor I, Berkovic SF, Scheffer IE. Genetics of epilepsy syndromes in families with photosensitivity. Neurology 2013 Apr 2;80(14):1322-9. doi: 10.1212/WNL.0b013e31828ab349. Epub 2013 Mar 13 48. Weckhuysen S, Holmgren P, Hendrickx R, Jansen A, Hasaerts D, Dielman C, de Bellescize J, Boutry- Kryza N, Lesca G, von Spiczak S, Helbig I, Gill D, Yendle S, Møller RS, Klitten L, Korff C, Godfraind C, Van Rijckevorsel K, De Jonghe P, Hjalgrim H, Scheffer IE, Suls A. Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. Epilepsia 2013 May;54(5):e74-80. doi: 10.1111/epi.12124. Epub 2013 Feb 14. 49. Mandelstam SA, Leventer RJ, Sandow A, McGillivray G, van Kogelenberg M, Guerrini R, Robertson S, Berkovic SF, Jackson GF, Scheffer IE. Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities. Am J Neuroradiol 2013 Feb;34(2):432-8. doi: 10.3174/ajnr.A3427. Epub 2013 Jan 24. 50. Carney PW, Harvey AS, Berkovic SF, Jackson GD, Scheffer IE. Siblings with refractory epilepsy showing localized network activity on EEG fMRI. Epilepsia 2013 Feb;54(2):e28-32. doi: 10.1111/epi.12076. Epub 2013 Jan 7. 51. Winawer MR, Connors R, EPGP Investigators. Evidence for a shared genetic susceptibility to migraine and epilepsy. Epilepsia 2013 Feb;54(2):288-95. doi: 10.1111/epi.12072. Epub 2013 Jan 7. 52. Tsai MH, Vears DF, Turner SJ, Smith RL, Berkovic SF, Sadleir LG, Scheffer IE. Clinical genetic study of the epilepsy-aphasia spectrum. Epilepsia 2013 Feb;54(2):280-7. doi: 10.1111/epi.12065. Epub 2013 Jan 7. 53. Kim YO, Dibbens L, Marini C, Suls A, Chemaly N, Mei D, McMahon JM, Iona X, Berkovic SF, de Jonghe P, Guerrini R, Nabbout R, Scheffer IE. Do mutations in SCN1B cause Dravet syndrome? Epilepsy Res 2013 Jan;103(1):97-100. doi: 10.1016/j.eplepsyres.2012.10.009. Epub 2012 Nov 20. 54. Brunklaus A, Dorris L, Ellis R, Reavey E, Lee E, Forbes G, Appleton R, Cross JH, Ferrie C, Hughes I, Jollands A, King MD, Livingston J, Lynch B, Philip S, Scheffer IE, Williams R, Zuberi SM. The clinical utility of an SCN1A genetic diagnosis in infantile onset epilepsy. Dev Med Child Neurol 2013 Feb;55(2):154-61. doi: 10.1111/dmcn.12030. Epub 2012 Nov 20 2012 55. Arsov T, Mullen SA, Rogers S, Phillips AM, Katherine M Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE. GLUT1-deficiency in the idiopathic generalised epilepsies. Ann Neurol 2012 Nov;72(5):807-15. doi: 10.1002/ana.23702. 56. Sadleir LG, Vears D, Regan B, Redshaw N, Bleasel A, Scheffer IE. Family studies of individuals with eyelid myoclonia with absences. Epilepsia 2012 Dec;53(12):2141-8. doi: 10.1111/j.1528- 1167.2012.03692.x. Ingrid Scheffer 15

57. Ng YT, Conry J, Paolicchi J, Kernitsky L, Mitchell W, Drummond R, Isojarvi J, Lee D, Owen R; OV-1004 study investigators. Long-term safety and efficacy of clobazam for Lennox-Gastaut syndrome: interim results of an open-label extension study. Epilepsy Behav 2012 Dec;25(4):687-94. doi: 10.1016/j.yebeh.2012.09.039. Epub 2012 Nov 7. 58. Arsov T, Mullen S, Damiano J, Lawrence K, Huh L, Nolan M, Young H, Thouin A, Dahl HH, Berkovic SF, Crompton D, Sadleir L, Scheffer IE. Early-onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. Epilepsia 2012 Dec;53(12):e204-7. doi: 10.1111/epi.12007. Epub 2012 Oct 25. 59. Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Dibbens LM*, Scheffer IE*. Missense mutations in the sodium- gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 2012 Nov;44(11):1188-90. doi: 10.1038/ng.2440. Epub 2012 Oct 21. * equal senior author 60. Scheffer IE, Grinton BE, Heron SE, Kivity S, Afawi Z, Iona X, Goldberg-Stern H, Andrews I, Guerrini R, Marini C, Sadleir LG, Berkovic SF, Dibbens LM. PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology 2012 Nov 20;79(21):2104-8. doi: 10.1212/WNL.0b013e3182752c6c. Epub 2012 Oct 17 61. Tomlinson SE, Bostock H, Grinton B, G Hanna M, Kullmann DM, Kiernan MC, Scheffer IE, Berkovic SF, Burke D. In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission. Brain 2012 Oct;135(Pt 10):3144-52. doi: 10.1093/brain/aws241. 62. EPICURE Consortium, EMINet Consortium, Steffens M, Leu C, Ruppert A-K, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve1 A, Crichiutti G, de Kovel C, Kasteleijn-Nolst Trenité D, de Haan G-J, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Steinhoff BJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Møller RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki A-E, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann H-E, Balschun T, Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, Schulz H, Rüschendorf F, Markus L, Pauck SM, Trucks H, Toliat MR, Nürnberg P, Avanzini G, Koeleman BPC, Sander T. Genome-wide association analysis of genetic generalized epilepsies implicated susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet 2012 Dec 15;21(24):5359-72. doi: 10.1093/hmg/dds373. Epub 2012 Sep 4. 63. Pisano T, Barkovich J, Leventer R, Squier W, Scheffer IE, Parrini E, Blaser S, Marini C, Robertson S, Tortorella G, Rosenow F, Thomas P, McGillivray G, Andermann E, Andermann F, Berkovic SF, Dobyns W, Guerrini R. Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology 2012 Sep 18;79(12):1244-51. doi: 10.1212/WNL.0b013e31826aac88. Epub 2012 Aug 22. 64. Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium, Nicole S, Gurrieri F, Neri G, de Vries B, Koelewijn S, Kamphorst J, Geilenkirchen M, Pelzer N, Laan L, Haan J, Ferrari M, van den Maagdenberg A; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium, Zucca C, Bassi MT, Franchini F, Vavassori R, Giannotta M, Gobbi G, Granata T, Nardocci N, De Grandis E, Veneselli E, Stagnaro M, Gurrieri F, Neri G, Vigevano F; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium, Panagiotakaki E, Oechsler C, Arzimanoglou A, Nicole S, Giannotta M, Gobbi G, Ninan M, Neville B, Ebinger F, Fons C, Campistol J, Kemlink D, Nevsimalova S, Laan L, Peeters-Scholte C, van den Maagdenberg A, Casaer P, Casari G, Sange G, Spiel G, Boneschi FM, Zucca C, Bassi MT, Schyns T, Crawley F, Poncelin D, Vavassori R, Fiori S, Abiusi E, Di Pietro L, Ingrid Scheffer 16

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evidence from very long-termcourse and neuropathology. Brain 2011;134:2982-3010. Epub 2011 Jun 29. 88. von Spiczak S, Hebig I, Drechsel-Baeuerle U, Muhle H, van Baalen A, van Kempen MJ, Lindhout D, Scheffer IE, Berkovic SF, Stephanie U, Keller-Stanislawski B. A Retrospective Population-based Study on Seizures Related to Childhood Vaccination. Epilepsia 2011;52:1506-12. Epub 2011 Jun 21. 89. Anand G, Padeniya A, Hanrahan D, Scheffer H, Zaiwalla Z, Cox D, Man N, Hewertson J, Price S, Nemeth A, Arsov T, Scheffer I, Jayawant S, Pike M, McShane T. Milder phenotypes of glucose transporter type 1 deficiency syndrome. Dev Med Child Neurol 2011;53:664-8. Epub 2011 Mar 24. 90. Mullen SA, Marini C, Suls A, Mei D, Della Giustina E, Buti D, Arsov A, Damiano J, Lawrence K, De Jonghe P, Berkovic SF, Guerrini R*, Scheffer IE*. Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy. Arch Neurol 2011;68:1152-5. Epub 2011 May 9. * equal senior author 91. Dibbens LM, Kneen R, Bayla MA, Heron SE, Arsov T, Damiano JA, Desai T, Gibbs J, McKenzie F, Mulley JC, Ronan A, Scheffer IE. Recurrence risk of epilepsy and MR in females due to parental mosaicism of PCDH19 mutations. Neurology 2011;76:1514-9 92. Klein KM, Yendle SC, Harvey AS, Antony JH, Wallace G, Bienvenu T, Scheffer IE. A distinctive seizure type in patients with CDKL5 mutations: hypermotor-tonic-spasms sequence. Neurology 2011;76:1436-8. 93. Sadleir LG, Farrell K, Smith S, Connolly MB, Scheffer IE. Electroclinical features of absence seizures in sleep. Epilepsy Res 2011;93:216-20. Epub 2011 Jan 20. 94. Baird AD, Scheffer IE, Wilson SJ. Mirror neuron system involvement in empathy: a critical look at the evidence. Soc Neurosci 2011;16:327-35. 95. Conlin LK, Kramer W, Hutchinson AL, Li X, Riethman H, Hakonarson H, Mulley JC, Scheffer IE, Berkovic SF, Hosain SA, Spinner NB. Molecular analysis of Ring Chromosome 20 syndrome reveales two distinct groups of patients. J Med Genet 2011;48:1-9. Epub 2010 Oct 23.

2010 96. Muhle H, Steinich I, von Spiczak S, Franke A, Weber Y, Lerche H, Wittig M, Heidemann S, Suls A, Dr Jonghe P, Marini C, Guerrini R, Scheffer IE, Berkovic SF, Siebert R, Sander T, Stephani U, Helbig I, Tönnies H. A duplication in 1q21.3 in a family with early-onset and childhood absence epilepsy. Epilepsia 2010;51:2453-6. Epub 2010 Sept 24. 97. Vadlamudi L, Dibbens LM, Lawrence KM, Iona X, McMahon JM, Murrell W, Mackay-Sim A, Scheffer IE, Berkovic SF. Timing of de novo mutagenesis: a twin study of sodium channel mutations. N Engl J Med 2010;363:1335-40. 98. Deprez L, Weckhuysen S, Holmgren P, Suls A, Van Dyck T, Goossens D, Del-Favero J, Jansen A, Verhaert K, Lagae L, Jordanova A, Van Coster R, Yendle S, Berkovic SF, Scheffer IE, Ceulemans B, De Jonghe P. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. Neurology 2010;75:1159-65. 99. Crompton DE, Scheffer IE, Taylor I, Cook MJ, McKelvie PA, Vears DF, Lawrence KM, McMahon JM, Grinton BE, McIntosh AM, Berkovic SF. Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance. Brain 2010;133:3221-31. Epub 2010 Sep 23. 100. Kurian, MA, Meyer E, Vassallo G, Morgan NV, Prakash N, Pasha S, Hai NA, Shuib S, Rahman F, Wassmer E, Cross JH, O’Callaghan FJ, Berkvic SF, Osborne JP, Scheffer IE, Gissen P, Maher ER. Phospholipase C Beta 1 (PLCB1) deficiency is associated with early- onset epileptic encephalopathy. Brain 2010;133:2964-70. Epub 2010 Sep 9. Ingrid Scheffer 19

101. Carney PW, Masterton RAJ, Harvey AS, Scheffer IE, Berkovic SF, Jackson GD. The core network in absence epilepsy: differences in cortical and thalamic BOLD response. Neurology 2010;75:904-11. Epub 2010 Aug 11. 102. McMahon J, Scheffer IE, Nicholl JK, Waters W, Eyre H, Hinton L, Nelson P, Yu S, Dibbens LM, Berkovic SF, Mulley JC. Detection of microchromosomal aberrations in refractory epilepsy: a pilot study. Epileptic Disord 2010;12:192-198. DOI: 10.1684/epd.2010.0326 Epub 2010 Jul 19. 103. Sadleir LG, Scheffer IE. Optimizing electroencephalographic studies for epilepsy diagnosis in children with new-onset seizures. Arch Neurol 2010;67:1345-9. Epub 2010 Jun 23. 104. Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 2010;75:432-40. Epub 2010 Jun 23. Editorial: Nickels K, Wirrell E. GLUT1-ous maximus epilepticus: The expanding phenotype of GLUT-1 mutations and epilepsy. Neurology 2010;75:390-391. 105. Azmanov DN, Zhelyazkova S, Dimova PS, Radionova M, Bojinova V, Florez L, Smith SJ, Tournev I, Jablensky A, Mulley J, Scheffer IE, Kalaydjieva L, Sander JW. Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family. Epileptic Disord 2010;12:117-124. 106. McIntosh AM, McMahon J, Dibbens LM, Iona X, Mulley JC, Scheffer IE, Berkovic SF. Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurol 2010;9:592-8. Epub 2010 May 4. Editorial: Wiznitzer, M. Dravet syndrome and vaccination: when science prevails over speculation. Lancet Neurol 2010;9:559-61. Editorial: Baxter, P. Pertussis vaccine encephalopathy: ‘Oh! Let us never, never doubt…’ Dev Med Child Neurol 2010;52:883-884. 107. Dibbens LM, Reid CA, Hodgson B, Thomas EA, Phillips AM, Gazina E, Cromer BA, Clarke AL, Baram TZ, Scheffer IE, Berkovic SF, Petrou S. Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. Ann Neurol 2010;67:542-6. 108. Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstahm S, Scheffer IE, Berkovic SF, Andermann E, Andermann F, Guerrini R, Dobyns WB. Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain 2010;133:1415-27. Epub 2010 Apr 19. Editorial: Golden JA, Harding BN. Cortical malformations: Unfolding polymicrogyria. Nat Rev Neurol 2010;6:471-2. 109. White R, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, TongX-Z, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J, Cox TC, Christodoulou J. Cyclin-dependent Kinase-like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders. Twin Res Hum Genet 2010;13:168-78. 110. Heron SE, Scheffer IE, Grinton BE, Eyre H, Oliver KL, Bain S, Berkovic SF, Mulley JC. Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3. Epilepsia 2010;51:1865-1869. Epub 2010 Apr 2. 111. Berg AT, Berkovic SF, Brodie MJ, Buchhalter K, Cross JH, van Emde Boas W, Engel J, French K, Glauser TA, Mathern GW, Moshé SL, Nordli D, Plouin P, Scheffer IE. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009. Epilepsia 2010;51:676-85. Epub 2010 Feb 26. 112. Wood AG, Saling MM, Fedi M, Berkovic SF, Scheffer IE, Benjamin C, Reutens DC. Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsy Behav 2010;17:531-5. Epub 2010 Feb 26. 113. De Kovel CG, Pinto D, Tauer U, Lorenz S, Muhle H, Leu C, Neubauer BA, Hempelmann A, Callenbach PM, Scheffer IE, Berkovic SF, Rudolf G, Striano P, Siren A, Baykan B, Sander T, Lindhout D, Trenité Ingrid Scheffer 20

DG, Stephani U, Koeleman BP. Whole-genome linkage scan for epilepsy-related photosensitivity: A mega-analysis. Epilepsy Res 2010;89:286-94. Epub 2010 Feb 12. 114. Masterton R, Harvey AS, Archer JS, Lillywhite LM, Abbott DF, Scheffer IE, Jackson GD. Focal epileptiform spikes do not show a canonical BOLD response in patients with benign rolandic epilepsy (BECTS). NeuroImage 2010;51:252-60. Epub 2010 Feb 6. 115. Ottman R, Hirose S, Jain S, Lerche H, Lopes-Cendes I, Noebels JL, Serratosa J, Zara F, Scheffer IE. Genetic testing in the epilepsies. Report of the ILAE Genetics Commission. Epilepsia 2010;51:655- 70. Epub 2010 Jan 19. 116. Heron SE, Hernandez M, Edwards C, Edkins E, Jansen FE, Scheffer IE, Berkovic SF, Mulley JC. Neonatal seizures and long QT syndrome: A cardiocerebral channelopathy? Epilepsia 2010;51:293- 6. Epub 2009 Oct 27. 117. Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Al Raisi Z, Turner SJ, Brown NJ, Desai TD, Haan E, Hackett A, Turner G, Christodoulou J, Leonard H, Gill D, Stratton M, Gecz J, Scheffer IE. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. J Med Genet 2010;47:211-6. Epub 2009 Sept 14. 118. Heron SE, Scheffer IE, Iona X, Zuberi SM, Birch R, McMahon JM, Bruce CM, Berkovic SF, Mulley JC. De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. J Med Genet 2010;47:137-41. Epub 2009 Jul 8. 2005-2009 119. Petrovski S, Scheffer IE, Sisodiya S, O’Brien TJ, Berkovic SF. Lack of replication of association between SCN1A SNP and febrile seizures. Neurology 2009;73:1928-30. 120. Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LRF, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE. Early onset absence epilepsy due to mutations in the glucose transporter GLUT1. Ann Neurol 2009;66:415-9. 121. Yeung A, Bruno D, Scheffer IE, Carranza D, Burgess T, Slater H, Amor DJ. 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet 2009;52:440-2. Epub 2009 Sept 20. 122. Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z, EPICURE Consortium, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF. Familial and sporadic 15q13.3 microdeletions in Idiopathic Generalized Epilepsy: Precedent for Disorders with Complex Inheritance. Hum Mol Genet 2009;18:3626-31. Epub 2009 Jul 10. 123. Dibbens LM, Harkin LA, Richards M, Hodgson BL, Clarke AL, Petrou S, Scheffer IE, Berkovic SF, Mulley JC. The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies. Neurosci Lett 2009;453:162-5. 124. Sadleir LG, Scheffer IE, Smith S, Connolly MB, Farrell K. Automatisms in absence seizures in children with Idiopathic Generalized Epilepsy. Arch Neurol 2009;66:729-34. 125. Sijben AEJ, Sithinamsuwan P, Radhakrishnan A, Badawy R, Dibbens L, Mazarib A, Lerman-Sagie T, Straussberg R, Berkovic SF, Scheffer IE. Does a SCN1A mutation confer earlier age of onset of febrile seizures in GEFS+? Epilepsia 2009;50:953-6. Epub 2009 Mar 9. 126. Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. SCN1A duplications and deletions detected in Dravet sydrome: implications for molecular diagnosis. Epilepsia 2009;50:953-6. Epub 2009 Mar 12. Ingrid Scheffer 21

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176. Tan NCK, Heron SE, Scheffer IE, Pelekanos JT, McMahon JM, Vears DF, Mulley JC, Berkovic SF. Failure to confirm association of a polymorphism in ABCB1 with multidrug resistant epilepsy. Neurology 2004;63:1090-2. 177. Wellard RM, R.S. Briellmann RS, Wilson JC, Kalnins RM, D. Anderson D, Federico P, Fabinyi GCA, Harvey AS, Scheffer IE, Jackson GD. Longitudinal study of MRS metabolites in Rasmussen’s encephalitis. Brain 2004;127:1302-12. 178. Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA. Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. Neurology 2004;62:1722-8. 179. Berkovic SF, MD, Izzillo P, McMahon JM, Harkin LA, McIntosh AM, Phillips HA, Briellmann RS, Wallace RH, Mazarib A, Neufeld MY, Korczyn AD, Scheffer IE, Mulley JC. LGI1 mutations in temporal lobe epilepsies. Neurology 2004;62:1115-1119. 180. Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Mulley JC, Berkovic SF. Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families. Epilepsia 2004;45:467-78. 181. Richards MC, Heron SE, Spendlove HE, Scheffer IE, Grinton B, Berkovic SF, Mulley JC, Davy A. Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. J Med Genet 2004;41:e35. 182. Sheen VL, Basel-Vanagaite L, Goodman JR, Scheffer IE, Bodell A, Ganesh VS, Ravenscroft R, Hill RS, Cherry TJ, Shugart YY, Barkovich J, Straussberg R, Walsh CA. Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus. Brain Dev 2004;26:326-34. 183. Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC. GABRD encoding a protein for extra or perisynaptic GABAA receptors is a susceptibility locus for generalised epilepsies. Hum Mol Genet 2004;13:1315-9. 184. Sabaz M, Cairns DR, Bleasel AF, Grinton B, Scheffer IE, Bye AME. The health-related quality of life (HRQOL) profile of different childhood epilepsy syndromes. J Paediatr Child Health 2003;39:690- 696. 185. Johnson MR, Milne RL, Torn-Broers YT, Hopper JL, Scheffer IE, Berkovic SF. A twin study of genetic influences on epilepsy outcome. Twin Res 2003;6:140-146. 186. McLellan A, Phillips HA, Rittey C, Kirkpatrick M, Mulley JC, Goudie D, Stephenson JBP, Tolmie J, Scheffer IE, Berkovic SF, Zuberi SM. Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia 2003;44:613-617. 187. Marini C, Harkin L, Wallace RH, Mulley JC, Scheffer IE, Berkovic SF. Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation. Brain 2003;126:230-240. 188. Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE. Sodium channel alpha-1 subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology 2003;61:765769. 189. Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, Shevell M, Mercho S, Seni M- H, Guiot M-C, Mulley JC, Berkovic SF, Scheffer IE. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 2002;360:851-852 (Erratum: Lancet 2002;360:1520). Ingrid Scheffer 26

190. Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Stromme P, Berkovic SF, Gecz J, Mulley J. X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. Neurology 2002;59:348-356. 191. Wallace R, Scheffer IE, Parasivam G, Barnett S, Wallace GB, Sutherland G, Berkovic SF, Mulley JC. Generalised epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 2002;58:1426-1429. 192. Mitchell LA, Thomas PQ, Zacharin M, Scheffer IE. Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism? AJNR 2002;23:1475-1481. 193. Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Gedeon AK, Scheffer IE, Turner G, Partington M, Frints S, Fryns JP, Sutherland GR, Mulley JC, Gécz J. Mutations of the human ortholog of aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002;30:441-445. 194. Strømme P, Mangelsdorf MM, Scheffer IE, Gécz J. Infantile spasms, dystonia, and other phenotypes caused by mutations in Aristaless, a novel X-linked homeobox gene. Brain Dev 2002;24:266-268. 195. D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa Da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, Bernardi B, Volpi L, Tassinari CA, Guggenheim MA, Ledbetter DH, Gleeson JG, Lopes-Cendes I, Vossler DG, Malaspina E, Franzoni E, Sartori RJ, Mitchell MH, Mercho S, Dubeau F, Andermann F, Dobyns WB, Andermann E. Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain 2002;125:2507-2522. 196. Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, Richards MC, Williams DA, Mulley JC, Berkovic SF, Scheffer IE, Petrou S. Truncation of the GABAA receptor γ2 subunit is associated with generalized epilepsy with febrile seizures plus. Am J Hum Genet 2002;70:530-536. 197. Singh R, Gardner MRJ, Crossland KM, Scheffer IE, Berkovic, SF. Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters. Epilepsia 2002;43:127-140. 198. Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland G, Mulley JC, Scheffer IE, Berkovic SF. Mutant GABAA receptor gamma-2 subunit in childhood absence epilepsy and febrile seizures. Nat Genet 2001;28:49-52. 199. Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Rouleau GA, Cossette P, Sutherland GR, George AL, Mulley JC, Berkovic SF. Neuronal sodium channel α1 subunit (SCN1A) mutations in generalised epilepsy with febrile seizures plus. Am J Hum Genet 2001;68:859-865. 200. Phillips HA, Favre I, Kirkpatrick M, Zuberi SM, Goudie D, Heron S, Scheffer IE, Sutherland GR, Berkovic SF, Bertrand D, Mulley JC. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet 2001;68:225-231. 201. Singh R, Andermann E, Whitehouse WPA, Harvey S, Keene DL, Seni M-H, Crossland KM, Andermann F, Berkovic SF, Scheffer IE. Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia 2001;42:837-844. 202. Sheen VL, Dixon P, Hong S, Fox JW, Kinton L, Sisodiya SM, Duncan JS, Seni HM, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, Berg M, Kuzniecky R, Cole A, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida G, Berkovic SF, Andermann E, Dobyns WB, Wood NW, Walsh CA. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopias in males as well as in females. Hum Mol Genet 2001;10:1775-1783. Ingrid Scheffer 27

203. Gardner RJM, Coleman LT, Mitchell LA, Smith LJ, Harvey AS, Scheffer IE, Storey E, Nowotny MJ, Sloane RA, Lubitz L. Near-total absence of the cerebellum. Neuropediatrics 2001;32:62-68. 204. Phillips HA, Marini C, Scheffer IE, Sutherland GR, Mulley JC, Berkovic SF. A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann Neurol 2000;48:264-267. 205. Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, Ricci S, Cusmai R, Wheless JW, Berkovic S, Scheffer I, Dobyns WB, Walsh CA. Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol 2000;47:265-269. 206. Lopes-Cendes I, Scheffer IE, Berkovic SF, Rousseau M, Andermann E, Rouleau GA. A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2. Am J Hum Genet 2000;66:698-701. 207. Steinlein OK, Stoodt J, Mulley J, Berkovic SF, Scheffer IE, Brodtkorb E. Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. Epilepsia 2000;41:529-535. 208. Ross SA, Wong JYF, Clifford JJ, Kinsella A, Massalas JS, Horne MK, Scheffer IE, Kola I, Waddington JL, Berkovic SF, Drago J. Phenotypic characterization of an alpha 4 neuronal nicotinic acetylcholine subunit knockout mouse. J Neurosci 2000;20:6431-6441. 209. Poussaint TY, Fox JW, Dobyns WB, Radtke R, Scheffer IE, Berkovic SF, Barnes PD, Huttenlocher PR, Walsh CA. Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. Pediatr Radiol 2000;30:748-755. Prior to 2000 210. Singh R, Scheffer IE, Crossland K, Berkovic SF. Generalised epilepsy with febrile seizures plus (GEFS+): a common, childhood onset, genetic epilepsy syndrome. Ann Neurol 1999;45:75-81. 211. Macdonell RAL, Jackson GD, Curatolo JM, Abbott DF, Berkovic SF, Carey LM, Syngeniotis A, Fabinyi GC, Scheffer IE. Motor cortex localisation using fMRI and transcranial magnetic stimulation. Neurology 1999;53:1462-1467. 212. Gleeson JG, Minnerath SR, Fox JW, Allen KM, Luo RF, Hong SE, Berg MJ, Kuzniecky R, Reitnauer PJ, Borgatti R, Mira AP, Guerrini R, Holmes GL, Rooney CM, Berkovic S, Scheffer I, Cooper EC, Ricci S, Cusmai R, Crawford TO, Leroy R, Andermann E, Wheless JW, Dobyns WB, Ross ME, Walsh CA. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol 1999;45:146-153. 213. Xiong L, Labuda M, Li D-S, Hudson TJ, Desbiens R, Patry G, Verret S, Langevin P, Mercho S, Seni M-H, Scheffer I, Dubeau F, Berkovic SF, Andermann F, Andermann E, Pandolfo M. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Am J Hum Genet 1999;65:1698-1710. 214. Singh R, Macdonell RAL, Scheffer IE, Crossland KM, Berkovic SF. Epilepsy and paroxysmal movement disorders in families: evidence for shared mechanisms. Epileptic Disord 1999;1:93-101. 215. Reardon KA, Scheffer IE, Smith LJ, Jolley D, Horne MK. How long should a routine EEG be? J Clin Neurosci 1999;6:492-493. 216. Wallace RH, Wang DW, Singh R, Scheffer IE, George AL, Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta 1 subunit gene SCN1B. Nat Genet 1998;19:366-370. 217. Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998;92:63- 72. Ingrid Scheffer 28

218. Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 1998;21:1315-1325. 219. Phillips HA, Scheffer IE, Crossland KM, Bhatia KP, Fish DR, Marsden CD, Howell SJL, Stephenson JBP, Tolmie J, Plazzi G, Eeg-Olofsson O, Singh R, Lopes-Cendes I, Andermann E, Andermann F, Berkovic SF, Mulley JC. Autosomal dominant nocturnal frontal lobe epilepsy: genetic heterogeneity and a probable second locus at 15q24. Am J Hum Genet 1998;63:1108-1116. 220. Scheffer IE, Phillips HA, O’Brien CE, Saling MM, Wrennall JA, Wallace RH, Mulley JC, Berkovic SF. Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Ann Neurol 1998;44:890-899. 221. Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-490. 222. Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motte J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA. Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a novel gene causing neuronal migration defects in human brain. Hum Mol Genet 1997;6:555-563. 223. Hayman M, Scheffer IE, Chinvarun Y, Berlangieri SU, Berkovic SF. Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation. Neurology 1997;49:969-975. 224. Eksioglu YZ, Scheffer IE, Cardenas P, Knoll J, DiMario F, Ramsby G, Berg M, Kamuro K, Berkovic SF, Duyk GM, Parisi J, Huttenlocher PR, Walsh C. Periventricular heterotopias: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron 1996;16:77-87. 225. Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11:201-203. 226. Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann E, Andermann F, Desbiens R, Keene D, Cendes F, Manson JI, Constantinou JEC, McIntosh A, Berkovic SF. Autosomal dominant nocturnal frontal lobe epilepsy: a distinctive clinical disorder. Brain 1995;118:61-73. 227. Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Localisation of a gene for autosomal dominant nocturnal frontal lobe epilepsy to 20q13.2. Nat Genet 1995;10:117-118. Ryan SG. Partial epilepsy: Chinks in the armour. Nat Genet 1995;10:4-6 (Commentary). 228. Scheffer IE, Jones L, Pozzebon M, Howell RA, Saling MM, Berkovic SF. Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation. Ann Neurol 1995;38:633-642. 229. Lopes-Cendes I, Phillips HA, Scheffer IE, Mulley JC, Desbiens R, Andermann E, Cendes F, Andermann F, Berkovic SF, Rouleau GA. Genetic linkage studies in familial frontal epilepsy: exclusion of the human chromosome regions homologous to the El-1 mouse locus. Epilepsy Res 1995;22:227-233. 230. Berkovic SF, Kennerson ML, Howell RA, Scheffer IE, Hwang PA, Nicholson GA. Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20. Arch Neurol 1994;51:1125-1128. 231. Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann F, Andermann E, Desbiens R, Cendes F, Manson JI, Berkovic SF. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 1994;343:515-517. 232. Scheffer IE, Baraitser M, Wilson J, Godfrey C, Brett EM. Autosomal recessive microcephaly with severe psychomotor retardation. Neuropediatrics 1992;23:53-56. Ingrid Scheffer 29

233. Scheffer IE, Baraitser M, Brett EM. Severe microcephaly associated with congenital varicella infection. Case report. Dev Med Child Neurol 1991;33:916-920. 234. Scheffer IE, Baraitser M, Wilson J, Kendall B, Harding B, Brett EM. Pelizaeus-Merzbacher Disease: classical or connatal? Neuropediatrics 1991;22:71-78. 235. Scheffer IE, Hutson JM, Warne GL, Ennis G. Extreme virilization in patients with congenital adrenal hyperplasia fails to induce descent of the ovary. Pediat Surg Int 1988;3:165-168.

Reviews and Invited Editorials in Refereed Journals 236. Scheffer IE, Mefford H. Genetics in epilepsy: beyond the single nucleotide variant. Nat Rev Neurol doi:10.1038/nrneurol.2014.146 . Epub 2014 Aug 12 (invited editorial). 237. Scheffer IE, Dravet C. Transition to adult life in the monogenic epilepsies. Epilepsia (in press, 30 March 2014) (invited review). 238. Scheffer IE. Epilepsy genetics revolutionizes clinical practice. Neuropediatrics 2014 Apr;45(2):70-4. doi: 10.1055/s-0034-1371508. Epub 2014 Mar 10. 239. Korff CM, Scheffer IE. Epilepsy classification – a cycle of evolution and revolution. Curr Opin Neurol 2013;26:163-7 (invited review). 240. Hildebrand MS, Dahl HH, Damiano JA, Smith RJ, Scheffer IE, Berkovic SF. Recent advances in the molecular genetic of epilepsy. J Med Genet 2013;50:271-9. Epub 2013 Mar 6 (invited review). 241. Scheffer IE, Mullen SA. Epilepsy in 2012: Advances in epilepsy shed light on key questions. Nature Rev Neurol 2013:9:66-8. Epub 2013 Jan 8 (invited review). 242. Nabbout R, Scheffer IE. Genetics of idiopathic epilepsies. Handb Clin Neurol 2013;111:567-78. doi: 10.1016/B978-0-444-52891-9.00059-2 (invited review). 243. Scheffer IE. Epilepsy: a classification for all seasons? Epilepsia 2012;53(Suppl 2):6-9 (invited commentary). 244. Scheffer IE. Diagnosis and long-term course of Dravet syndrome. Eur J Paediatr Neurol 2012; 16(Suppl 1):S5-8. Epb 2012 Jun 16 (invited review). 245. Scheffer IE. GLUT1 deficiency: a glut of epilepsy phenotypes. Neurology 2012;78:524-5. Epub 2012 Jan 25 (invited editorial). 246. Scheffer IE. Genetic testing in epilepsy: What should you be doing? Epilepsy Currents 2011;11:107- 11 (invited review). 247. Berg AT, Scheffer IE. What is at stake in a classification? Epilepsia 2011;52:1205-8 (invited commentary). 248. Berg A, Scheffer IE. New concepts in classification of the epilepsies: entering the 21st century. Epilepsia 2011;52:1058-62. 249. Bien CG, Scheffer IE. Autoantibodies and Epilepsy. Epilepsia 2011;52:18-22 (invited review). 250. Scheffer IE, Does genotype determine phenotype? Sodium channel mutations in Dravet syndrome and GEFS+. Neurology 2011;76:588-9. Epub 2011 Jan 19 (invited editorial). 251. Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F, Guerrini R. The genetics of Dravet syndrome. Epilepsia 2011;52:24-9. (invited review). 252. Scheffer IE, Genetics of the epilepsies: channelopathies and beyond. Epilepsia 2011;52:192-3 (invited editorial). Ingrid Scheffer 30

253. Scheffer IE, Berkovic SF. Copy number variants – an unexpected risk factor for the idiopathic generalized epilepsies. Brain 2010;133:7-8 (invited editorial). 254. Scheffer IE, Zhang YH, Gecz J, Dibbens L. Genetics of the epilepsies: Genetic twists in the channels and other tales. Epilepsia 2010;51:33-6 (invited review). 255. Scheffer IE, Berg AT. Classification and clinical features of absence epilepsies: how evidence leads to changing concepts. Epilepsia 2008;49:2140-1 (invited commentary) 256. Scheffer IE, Zhang Y-H, Jansen FE, Dibbens L. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev 2009;31:394-400. Epub 2009 Feb 8 (invited review). 257. Mullen S, Scheffer IE. Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse. Arch Neurol 2009;66:21-6. 258. Helbig I, Scheffer IE, Mulley JC, Berkovic SF. Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol 2008;7:231-45 (invited review). 259. Sadleir LG, Scheffer IE. Febrile Seizures. BMJ 2007:334:307–11 (invited review). 260. Dulac O, Nabbout R, Plouin P, Chiron C, Scheffer IE. Early seizures: causal events or predisposition to adult epilepsy? Lancet Neurol 2007;6:643-51 (invited review). 261. Brown NJ, Berkovic SF, Scheffer IE. Vaccination, Seizures and “Vaccine Damage”. Curr Op Neurol 2007;20:181–187 (invited review). 262. Heron SE, Scheffer IE, Berkovic SF, Dibbens LM, Mulley JC. Channelopathies in Idiopathic Epilepsy. NeuroRx 2007:4:295–304 (invited review). 263. Sisiodiya S, Cross JH, Blumcke I, Chadwick D, Craig J, Crino PB, Debenham P, Delanty N, Elmslie F, Gardiner M, Golden J, Goldstein D, Greenberg DA, Guerrini R, Hanna M, Harris J, Harrison P, Johnson MR, Kriov G, Kullman DM, Makoff A, Marini C, Nabbout R, Nashef L, Noebels JL, Ottman R, Pirmohamed M, Pitkanen A, Scheffer I, Shorvon S, Sills G, Wood N, Zuberi S. Genetics of epilepsy: Epilepsy Research Foundation workshop report. Epileptic Disord 2007;9:194-236. 264. Scheffer IE, Dibbens L, Berkovic SF, Mulley JC. What is the role of genetics in epilepsy? Epileptic Disord 2007;9:196-197 (invited review). 265. Berkovic SF, Mulley JC, Scheffer IE, Petrou S. Human epilepsies: Interaction of genetic and acquired factors. TINS 2006;29:391–7. Epub June 10 2006 (invited review). 266. Tan NCK, Mulley JC, Scheffer IE. Genetic dissection of the common epilepsies. Curr Opin Neurol 2006;19:157-163 (invited review). 267. Srinivasan J, Wallace K, Scheffer IE. Febrile seizures. Aust Fam Physician 2005;34:1021-1025 (invited review). 268. Carney P, Prowse M, Scheffer IE. Epilepsy syndromes in children. Aust Fam Physician 2005;34:1009-1015 (invited review). 269. Scheffer IE. The role of genetics and ethnicity in epilepsy management. Acta Neurol Scand 2005:181:47-51 (invited review). 270. Scheffer IE, Harkin LA, Dibbens LM, Mulley JC, Berkovic SF. Neonatal epilepsy syndromes and generalised epilepsy with febrile seizures plus (GEFS+). Epilepsia 2005;46:41-7 (invited review). 271. Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. SCN1A mutations and epilepsy. Human Mutation 2005;25:535-542 (invited review). 272. Mulley JC, Scheffer IE, Harkin LA, Berkovic SF, Dibbens LM. Susceptibility genes for complex epilepsy. Human Mol Genet 2005:14 Spec No. 2: R243-9 (invited review). 273. Vadlamudi L, Scheffer IE, Berkovic SF. Genetics of temporal lobe epilepsy. JNNP 2003; 74:1359- 1361 (invited editorial). Ingrid Scheffer 31

274. Scheffer IE. Severe infantile epilepsies: molecular genetics challenge clinical classification. Brain 2003;126:513-514 (invited editorial). 275. Taylor I, Scheffer IE, Berkovic SF. Occipital epilepsies: identification of specific and newly recognized syndromes. Brain 2003;126:753-769. 276. Scheffer IE, Berkovic SF. The genetics of human epilepsy. Trends Pharmacol Sci 2003;24:428-433 (invited review). 277. Mulley JC, Scheffer IE, Petrou S, Berkovic SF. Channelopathies as a genetic cause of epilepsy. Curr Opin Neurol 2003; 16:171-176 (invited review). 278. Berkovic SF, Scheffer IE. Genetics of the epilepsies. Epilepsia 2001;42:16-23 (invited review). 279. Scheffer IE, Wallace RH, Mulley JC, Berkovic SF. Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy of infancy (Dravet syndrome). Brain Dev 2001 Nov;23:732- 735 (invited review). 280. Scheffer IE. Autosomal dominant rolandic epilepsy with speech dyspraxia. In conference proceedings: spectrum of rolandic epilepsy: agreements, disagreements and questions. Epileptic Disord 2000;2:S19-22 (invited review). 281. Yeo M, Scheffer IE, Sawyer S. Headaches in children and adolescents. Med Today 2000;12:16-28 (invited review). 282. Scheffer IE. Autosomal dominant nocturnal frontal lobe epilepsy. In proceedings of Benign focal epilepsies of childhood: genetically determined pathophysiology. Epilepsia 2000;41:1059-1060 (invited review). 283. Scheffer IE, Berkovic SF. Genetics of the epilepsies. Curr Opin Ped 2000;12:536-542 (invited review). 284. Berkovic SF, Scheffer IE. Genetics of the epilepsies. Curr Opin Neurol 1999;12:177-182 (invited review). 285. Berkovic SF, Scheffer IE. Febrile seizures: genetics and relationship to other epilepsy syndromes. Curr Opin Neurol 1998;11:129-134 (invited review). 286. Berkovic SF, Scheffer IE. Genetics of human partial epilepsy. Curr Opin Neurol 1997;10:110-114 (invited review). 287. Berkovic SF, Scheffer IE. Epilepsies with single gene inheritance. Brain Dev 1997;19:13-18 (invited review).

Book (translational work for families with individuals with epilepsy) 288. Nation J, Cross H, Scheffer IE. Ketocooking: A practical guide to the ketogenic diet. The Homewood Press, UK 2012 (142 pages).

Book Chapters 289. Scheffer IE. Dravet syndrome. What matters more: seizures or the underlying aetiology? In: Arts WF, Arzimanoglou A, Brouwer OF, Camfield C, Camfield P, editors. Progress in Epileptic Disorders: Outcome of Childhood Epilepsies. Montrouge: John Libbey Eurotext, 2013 p. 133-140. 290. Picard F, Scheffer IE. Genetically determined focal epilepsies. In: Bureau M, Genton P, Dravet C, Delgado-Escueta AV, Tassinari CA, Thomas P, Wolf P, editors. Epileptic syndromes in Infancy, Childhood and Adolescence, Fifth Edition. Montrouge: John Libbey & Co Ltd, 2012. p. 349-61. 291. Camfield P, Camfield C, Scheffer IE, Marini C. Febrile Seizures and Genetic Epilepsy with Febrile Seizures Plus (GEFS+). In: Bureau M, Genton P, Dravet C, Delgado-Escueta AV, Tassinari CA, Thomas Ingrid Scheffer 32

P, Wolf P, editors. Epileptic syndromes in Infancy, Childhood and Adolescence, Fifth Edition. Montrouge: John Libbey & Co Ltd, 2012. p. 175-87. 292. Derry C, Scheffer IE. Autosomal dominant nocturnal frontal lobe epilepsy. In: Duchowny M, Cross H, Arzimanoglou A, editors. Pediatric Epilepsy. New York: McGraw-Hill, 2012. P.198-204. 293. Lerche H, Scheffer IE, Berkovic SF. Generalized (genetic) epilepsy with febrile seizures plus, severe myoclonic epilepsy of infancy (Dravet syndrome), Intractable childhood epilepsy with generalized tonic-clonic seizures and related syndromes. In: Lang F, editor. Encyclopedia of Molecular Mechanisms of Disease. Berlin: Springer-Verlag 2009, Part 7: 693-695. 294. Scheffer IE. Genetic (Generalized) epilepsy with febrile seizures plus. In: Schmidt D, Schachter SC, editors. Puzzling cases of epilepsy. Second Edition. San Diego: Elsevier, 2011. P. 29-33. 295. Berkovic SF, Scheffer IE. Clinical Genetics of Epilepsy. In: Schwartzkroin PA, editor. Encyclopedia of Basic Epilepsy Research, Vol 3. Oxford: Academic Press, 2009. p. 1509-1513. 296. Helbig I, Scheffer IE, Berkovic SF. Genetic epilepsies. In: Waxman SG, editor. Molecular neurology. Amsterdam: Elsevier, 2007. p. 371. 297. Kobayashi E, Andermann E, Andermann F, Scheffer IE. Is there a subset of benign cases within the autosomal dominant focal epilepsies? In: Fejerman N, Caraballo RH, editors. Benign focal epilepsies in infancy, childhood and adolescence. Chapter 13, Montrouge; Surrey: John Libbey Eurotext, 2007. p. 255–266. 298. Scheffer IE, Berkovic SF. Generalized (genetic) epilepsy with febrile seizures plus. In: Engel J Jnr, Pedley TA, editors. Epilepsy: A comprehensive textbook, Second Edition. Philadelphia: Lippincott Williams & Wilkins, 2008. p. 2553-2558. 299. Scheffer IE, Berkovic SF. Genetics of Epilepsy. In: Swaiman K, Ashwal S, Ferriero D, editors. Pediatric neurology: Principles and practice, Fourth Edition. St Louis: Mosby 2006. p. 1009-1017. 300. Picard F, Scheffer IE. Recently defined genetic epilepsy syndromes. In: Roger J, Bureau M, Dravet Ch, Genton P, Tassinari CA, Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence, Fourth Edition. London: John Libbey & Co Ltd, 2005. p. 519–535. 301. Gupta A, Scheffer IE. Genetics Aspects of Epilepsy and Genetics of Idiopathic Generalized Epilepsy. In: Wylie E, editor. The Treatment of Epilepsy: Principles and Practice, Fourth Edition. Philadelphia: Lippincott Williams & Wilkins, 2005. p.103-108. 302. Palmini A, Halász P, Scheffer IE, Takahashi Y, Perez Jimenez A, Dubeau F, Andermann F, Rosenow F, Fritsch B. Malformations of cortical development as a cause of reflex seizures: neurobiological insights. In: Wolf P, Inoue Y, Zifkin B, editors. Reflex epilepsies: progress in understanding. Surrey: John Libbey Eurotext, 2004. p.143-156. 303. Picard F, Scheffer IE. Recently defined genetic epilepsy syndromes. In: Roger J, Bureau M, Dravet Ch, Genton P, Tassinari CA, Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence, Third Edition. London. John Libbey & Co Ltd, 2002. p. 481-493. 304. Berkovic SF, Scheffer IE. Autosomal dominant nocturnal frontal lobe epilepsy. In: Bazil CW, Malow BA, Sammaritano MR, editors. Sleep and epilepsy: the clinical spectrum. Amsterdam; New York: Elsevier, 2002. p. 217-221. 305. Scheffer IE. Generalized epilepsy with febrile seizures plus. In: Schmidt D, Schachter SC, editors. 110 puzzling cases of epilepsy. London: Martin Dunitz Ltd, 2002. p.48-52. 306. Salas-Puig J, Perez-Jimenez A, Thomas P, Scheffer IE, Dalla Bernardina B. Opercular epilepsies with oromotor dysfunction. In: Guerrini R, Aicardi J, Andermann F, Hallett M, editors. Epilepsy and movement disorders. Cambridge: Cambridge University Press, 2002. p. 251-268. Ingrid Scheffer 33

307. Scheffer IE, Berkovic SF. Rational diagnosis of genetic epilepsies. In: Schmidt D, Schachter SC, editors. Epilepsy: Problem solving in clinical practice. London: Martin Dunitz Ltd, 2000. p.111-131. 308. Scheffer IE. Familial partial epilepsy with variable foci. In: Berkovic SF, Genton P, Hirsch E, Picard F, editors. Genetics of focal epilepsies. London: John Libbey & Co Ltd, 1999. p. 103-108. 309. Scheffer IE. Autosomal dominant nocturnal frontal lobe epilepsy. In: Berkovic SF, Genton P, Hirsch E, Picard F, editors. Genetics of focal epilepsies. London: John Libbey & Co Ltd, 1999. p. 81-84. 310. Scheffer IE. Autosomal dominant rolandic epilepsy with speech dyspraxia. In: Berkovic SF, Genton P, Hirsch E, Picard F, editors. Genetics of focal epilepsies. London: John Libbey & Co Ltd, 1999. p.109-114. 311. Berkovic SF, Scheffer IE. Genetics of partial epilepsies: new frontiers. In: Berkovic SF, Genton P, Hirsch E, Picard F, editors. Genetics of focal epilepsies. London: John Libbey & Co Ltd, 1999. p. 7-14. 312. Scheffer IE. Epilepsy in the intellectually disabled. In: Macdonell R, editor. New horizons in epilepsy and stroke. Melbourne: Stroke Society of Australasia/Epilepsy Society of Australia, 1993. p. 97-102.

On-Line Peer Reviewed Documents 313. Derry CP, Scheffer IE. Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) (July 2009, November 2010, April 2012, January 2014). In: Gilman S, editor-in-chief. MedLink Neurology. San Diego: Medlink Corporation. Available at www.medlink.com. 314. Lerche H, Scheffer IE, Berkovic SF. Generalized (Genetic) Epilepsy with Febrile Seizures Plus, Severe Myoclonic Epilepsy of Infancy (Dravet syndrome), Intractable Childhood Epilepsy with generalized tonic-clonic seizures and related syndromes (April 2009). In: Florian L, editor. Encyclopedia of Molecular Mechanisms of Disease [eReference]. 315. Adams JM, Berkovic SF, Scheffer IE. Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (May 2002). In: GeneReviews: Genetic Disease Online Reviews at GeneTests-GeneClinics [database online]. Copyright, University of Washington, Seattle. Available at: http://www.geneclinics.org.

Other Publications 316. Hildebrand MS, Damiano JA, Mullen SA, Bellows ST, Scheffer IE, Berkovic SF. Does variation in NIPA2 contribute to genetic generalized epilepsy? Hum Genet (letter) 2014 Jan 10. [Epub ahead of print]. 317. McIntosh AM, Scheffer IE, Berkovic SF. Vaccination and Dravet syndrome – Authors’ reply. Lancet Neurol 2010;9:1148-9. 318. Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE. Childhood absence epilepsy as a manifestation of GLUT1 deficiency: Reply. Ann Neurol 2010;67:273. 319. Mitchell LA, Scheffer IE. Septo-optic dysplasia and cortical malformation. AJNR 2007;28:199 (letter). 320. Grinton BE, Scheffer IE, Berkovic SF. Ethical, legal and social dimensions of epilepsy genetics – invited response. Epilepsia 2006;47:1751–2 (letter). 321. Engel J, Berg A, Andermann F, Avanzini G, Berkovic S, Blume W, Dulac O, van Emde Boas W, Fejerman N, Plouin P, Scheffer I, Seino M, Williamson P, Wolf P. Are epilepsy classifications based on epileptic syndromes and seizure types outdated? Epileptic Disord 2006;8:159-160 (letter). 322. Scheffer IE, Parry-Fielder B, Mullen SA, Saunders K. Epileptiform EEG abnormalities in children with language regression. Neurology 2006;67:1527. Epub 2006 22 May (letter). 323. Vadlamudi L, Harvey AS, Hopper JL, Scheffer IE, Berkovic SF. Genetic influence on Rolandic Epilepsy – Reply. Ann Neurol 2005;57:465 (letter). Ingrid Scheffer 34

324. Heron SE, Phillips HA, Mulley JC, Mazarib A, Neufeld MY, Berkovic SF, Scheffer IE. Genetic Variation of CACNA1H in Idiopathic Generalized Epilepsy. Ann Neurol 2004;55:595-596 (letter). 325. Mulley J, Heron S, Scheffer I, Berkovic S. Febrile convulsions and genetic susceptibility: Role of the neuronal nicotinic acetylcholine receptor alpha 4 subunit. Epilepsia 2004;45:561; author reply 561- 2 (letter). 326. Scheffer IE, Wallace RH, Mulley JC, Berkovic SF. Locus for febrile seizures. Ann Neurol 2000:47:842-841 (letter). 327. Scheffer IE, Bhatia D, Fish DR, Marsden CD, Andermann F, Andermann E, et al. First idiopathic partial epilepsy to show clear-cut autosomal dominant inheritance. Clinical Perspectives 1994;7:1-3. 328. Scheffer IE, Baraitser M, Brett EM. Similar facial dysmorphology in Angelman's syndrome and Rett's syndrome. J Med Genet 1990;27:275-276 (letter).

Grants NHMRC Research Grant Support Currently Held Grants 2013-15 Chief Investigator on NHMRC Project Grant: $848,930.06 “Gene discovery in large multiplex families with Autism Spectrum Disorders” 2011-15 NHMRC Practitioner Fellowship $514,465 2011-15 Chief Investigator on NHMRC Program Grant: $16,450,000 “Neurobiology of human epilepsy: Genes, cellular mechanisms, networks and whole brain”

Past Support 2009-11 Chief Investigator on NHMRC Project Grant: $559,375 “Clinical genetic phenotyping of Autism Spectrum Disorders” 2006–10 Chief Investigator on NHMRC Program Grant: $11,361,070 "Epilepsy: Molecular basis and mechanisms in the era of functional genomics" 2002–05 Chief Investigator on NHMRC Program Grant: $8,250,000 "Epilepsy: A collaborative research program from genome to patient" 2001–05 NHMRC Practitioner Fellowship $250,000 2001–03 Chief Investigator A on NHMRC Project Grant: $315,000 "Genetics of generalized epilepsy" (rolled up into Program grant) 1998–00 Chief Investigator on NHMRC Project Grant: $242,427 "Single gene epilepsies in large families" 1995–97 Research Officer on NHMRC Project Grant: $149,496 "Genetics of epilepsy syndromes in multiplex families" Chief Investigator Dr Samuel Berkovic 1992–94 NHMRC Medical Postgraduate Scholar $68,987

Associate Investigator Ingrid Scheffer 35

2013-15 Associate Investigator on NHMRC Project Grant: $555,431.18 “Neuro-Cardiac Genetic Basis of Sudden Unexpected Death in Epilepsy” University of Sydney 2013-15 Associate Investigator on NHMRC Project Grant: $672,384.96 “Febrile seizures following vaccination in children: How common are they and what is the long term clinical outcome?” University of Sydney 1994–96 Associate Investigator on NHMRC Project Grant: $118,860 "EEG status and developmental language disorders", Royal Children's Hospital

Research Grant Support from Other Sources

Currently Held Grants 2014 Melbourne Neurosciences Institute: “Elucidating speech disorders by $40,000 genetic analysis and imaging of neural pathways in twins” M Hildebrand, A Morgan, A Connelly, IE Scheffer 2013-2014 Weizmann Grant: “Elucidation of Migration Deficits in a Novel Epilepsy US$140,000 Gene” O Reiner, T Sapir, IE Scheffer 2013-2015 The Tasmanian Infantile Epileptic Encephalopathy Project $267,500 SF Berkovic, S Harvey, M Hildebrand, D Jones, IE Scheffer 2012-14 Australian Research Council: $510,000 “Elucidating the neural pathways and genetic basis of speech” IE Scheffer, AT Morgan, MS Hildebrand, A Connelly, F Liegeois, M Bahlo, RJ Smith 2011-15 National Institutes of Health, United States of America US$15,000,000 Epi4K: Gene discovery in 4000 epilepsy genomes Co-PI IE Scheffer

Past Support 2012-2013 Citizens United for Research in Epilepsy (CURE) SUDEP Award: US$100,000 “Neuro-Cardiac Genetic Basis of Sudden Unexpexted Death in Epilepsy (SUDEP)” C Semsarian, IE Scheffer 2012-13 Perpetual Philanthropic Services: $97,245 “Gene discovery in large multiplex families with autism traits” IE Scheffer, S Wilson 2012 US Department of Defence (DoD) Autism Research Program (ARP) Pilot US$100,000 Award “Identifying Neurobiological Markers of the Broader Autism Phenotype” S Wilson, IE Scheffer 2010-13 Health Research Council of New Zealand: NZ$1,158,831 “Defining the genetic determinants for epilepsy”

L Sadleir, IE Scheffer, S Robertson Ingrid Scheffer 36

2009-12 NIH grant U01 NS 053998: US$361,731 “Epilepsy genome/phenome project: A phenotype/genotype analysis of epilepsy” D Lowenstein, R Kuzniecky, IE Scheffer, S Berkovic 2011 Shepherd Foundation: $64,230 “Investigating causes of childhood speech disorder” IE Scheffer, A Morgan 2010 Austin Hospital Medical Research Foundation Grant: $10,000 “Investigating the genetic basis of childhood speech disorder” IE Scheffer, A Morgan 2009-10 Child Health Research Foundation, New Zealand: NZ$100,000 “Epilepsy genetics” L Sadleir, IE Scheffer 2009-10 ANZ Trustees: $29,960 “Childhood speech disorder” IE Scheffer, A Morgan 2008-09 Jack Brockhoff Foundation: $112,933 “Family and community study of the genetics of autism spectrum disorder” IE Scheffer, M Delatycki, V Anderson, S Wilson, J Gecz. M Rowell, N Brown, P Lockhart, M Bahlo 2008 University of Melbourne Medical Research Grant: $46,135 S Wilson, IE Scheffer, NM McLachlan, M Delatycki 2008 Austin Hospital Medical Research Foundation Grant: $15,000 “Effectiveness and safety of the ketogenic diet for treating epilepsy” IE Scheffer 2007-08 Perpetual Charitable Trustees: $27,850 “The genetics of speech disorders” IE Scheffer, S Reilly, A Morgan 2007-08 Health Research Council of New Zealand: NZ$150,000 “Genetics of epilepsy” L Sadleir, IE Scheffer 2007-08 Jack Brockhoff Foundation: $107,000 “Family and community study of the genetics of autism spectrum disorder” P Hewson, I Scheffer, M Delatycki, V Anderson, S Wilson, J Gecz. M Rowell, N Brown, P Lockhart, M Bahlo 2007 American Epilepsy Society Research Initiative Award: US$50,000 “Novel molecular and bioinformatic approaches facilitate epilepsy gene discovery” IE Scheffer, SF Berkovic, M Bahlo 2007 Pfizer Neuroscience Grant: $49,775 “Family and community study of the genetics of autism spectrum disorders” N Brown, I Scheffer, S Wilson Ingrid Scheffer 37

2006-07 Jack Brockhoff Foundation: $100,000 “Family and community study of the genetics of autism spectrum disorder” P Hewson, I Scheffer, M Delatycki, V Anderson, S Wilson, J Gecz. M Rowell, N Brown, P Lockhart 2006 Murdoch Childrens Research Institute $35,000 “Family and community study of the genetics of autism spectrum disorder” IE Scheffer, M Delatycki, V Anderson, P Hewson, P Lockhart, M Rowell, N Brown 2006 Austin Hospital Medical Research Foundation Grant: $7,500 “Effectiveness and safety of the ketogenic diet for treating epilepsy” IE Scheffer 2005-06 Perpetual (Percy Baxter Charitable Trusts): $40,000 “Family and community study into the genetics of autism” P Hewson, IE Scheffer, M Delatycki 2005–06 UCB Pharma: $81,563 “Evaluation of epilepsy phenotypes and genotypes showing a dramatic response to levetiracetam” IE Scheffer, SF Berkovic 2005 Austin Hospital Medical Research Foundation Grant: $10,000 “Effectiveness of the ketogenic diet for specific epilepsy syndromes” IE Scheffer 2005 Pfizer Neuroscience Grant: $54,923 “Efficacy and tolerability of the ketogenic diet for specific epilepsy syndromes” MT Mackay, IE Scheffer 2004-05 NZ Neurological Foundation Project Grant: NZ$28,936 “Comparison of early and sleep deprived EEGs in children with newly presenting seizures” LG Sadleir, IE Scheffer 2004-05 Perpetual (Percy Baxter Charitable Trusts): $40,000 “Family and community study into the genetics of autism” P Hewson, IE Scheffer, M Delatycki 2004-05 Geelong Medical Research Foundation: $28,800 “Collaborative family and community study of the genetics of autism” P Hewson, IE Scheffer, M Delatycki 2000-05 Industry Partnership Support Grant, Bionomics Ltd: $1,060,000 SF Berkovic, IE Scheffer 2003 Wellington Medical Research Foundation Incorporation Grant in Aid of NZ$7000 Research, Grant Number 2003/70: "Pilot comparison of early and sleep-deprived EEGs in children" LG Sadleir, IE Scheffer 2002 Austin Hospital Medical Research Foundation Grant: $8,834 "The genetic basis of speech and language disorders" IE Scheffer Ingrid Scheffer 38

2002 University of Otago Research Grant: NZ$21,274 "Pilot comparison of early and sleep-deprived EEGs in children" LG Sadleir, IE Scheffer 2002 University of Melbourne–Major Equipment Grant: $228,000 S Petrou, S Harrup, DA Williams, GD Jackson, DC Reutens, IE Scheffer, SF Berkovic 1998–01 Austin Hospital Medical Research Foundation Grant: $28,000 "Genes causing epilepsy (Single gene epilepsies in large families)" IE Scheffer 1998–99 Apex Foundation for Research into Intellectual Disability: $38,843 "Genetic and acquired factors in intellectual disability: insight into the aetiology of intellectual disability" AS Harvey, IE Scheffer 1998–99 Epilepsy Foundation of Victoria: $46,000 "Single gene epilepsies in large families" IE Scheffer 1995 & International Human Frontier Science Program: US$36,000 1997 Chief Investigator CW Walsh Associate Investigators SF Berkovic, IE Scheffer 1996 Apex Foundation for Research into Intellectual Disability: $14,000 "Genes causing intellectual disability and epilepsy” IE Scheffer, SF Berkovic 1996 Austin Hospital Medical Research Foundation Grant: $10,000 "Genetics of epilepsy syndromes in multiplex families" IE Scheffer 1995–96 Royal Children's Hospital Research Foundation: $22,500 "Genetics of epilepsy syndromes in multiplex families" IE Scheffer, SF Berkovic

Patents Application no. Patent title Filing date 2013900208 Gene and mutations thereof associated with seizure 2013 disorders Inventors Leanne Michelle Dibbens, Sarah Heron, Samuel Frank Berkovic, Ingrid Eileen Scheffer Funding Source NHMRC Patent Office Status Australia Filed

Application no. Patent title Filing date PCT/AU2012/001321 A gene and mutations thereof associated with seizure and 2012 movement disorders Inventors Samuel Frank Berkovic, Leanne Michelle Dibbens, Ingrid Eileen Scheffer, John Charles Mulley, Sarah Heron Funding Source Ingrid Scheffer 39

NHMRC Patent Office Status WIPO Awarded (PCT)

Application no. Patent title Filing date PCT/AU2009/000008 Diagnostic and Therapeutic Methods for EFMR (Epilepsy 2009 and Mental Retardation Limited to Females) Inventors Leanne Michelle Dibbens, Ingrid Eileen Scheffer, Samuel Frank Berkovic, John Charles Mulley, Jozef Gecz Funding Source Athena Diagnostics Patent Office Status USA Pending Canada Pending Japan Pending

Application no. Patent title Filing date PCT/AU2006/000841 Methods of treatment, and diagnosis of epilepsy by 2006 detecting mutations in the SCN1A gene Inventors John Charles Mulley, Louise Anne Harkin, Sarah Elizabeth Heron, Samuel Frank Berkovic, Ingrid Eileen Scheffer, Steven Petrou Funding Source NHMRC, Bionomics Patent Office Status Patent Office Status Australia Granted Canada Pending New Zealand Granted Japan Pending USA Granted European Patent Office Pending

Application no. Patent title Filing date PCT/2004/000295 A Diagnostic Method for Epilepsy. Also published as 2004 Methods for the Diagnosis and Treatment of Epilepsy Inventors Steven Petrou, Samuel Berkovic, Ingrid Scheffer Funding Source NHMRC, Bionomics Patent Office Status Patent Office Status Australia Granted Canada Pending New Zealand Granted Japan Pending USA Granted European Patent Office Pending

Application no. Patent title Filing date PCT/AU2004/001399 A Diagnostic Method for Neonatal or Infantile Epilepsy 2004 Syndromes Inventors Ingrid Eileen Scheffer, Samuel Frank Berkovic, Sarah Elizabeth Heron, John Charles Mulley Funding Source NHMRC, Bionomics Patent Office Status Patent Office Status Canada Expired Australia Expired Ingrid Scheffer 40

Japan Pending USA Expired

Application no. Patent title Filing date PCT/AU2003/001636 Mutations in GABA-B receptor 1 associated with epilepsy 2004 Inventors Ingrid Eileen Scheffer , Samuel Frank Berkovic, Leanne Michelle Dibbens, John Charles Mulley Funding Source NHMRC Patent Office Status Australia Ex[ired Japan Withdrawn

Application no. Patent title Filing date PCT/AU2004/001051 Mutations in ion channels 2004 Inventors John Charles Mulley, Louise Anne Harkin, Leanne Michelle Dibbens, Hilary Anne Phillips, Sarah Elizabeth Heron, Samuel Frank Berkovic, Ingrid Eileen Scheffer, Anne Davy Funding Source NHMRC, Bionomics Patent Office Status Patent Office Status Australia Granted New Zealand Granted USA Granted Japan Pending Canada Pending European Patent Office Withdrawn

Application no. Patent title Filing date PCT/AU2004/001240 Mutations in the NEDD4 gene family in epilepsy and other 2004 CNS conditions Inventors Leanne Michelle Dibbens, John Charles Mulley, Ingrid Eileen Scheffer, Samuel Frank Berkovic, Tom Gonda Funding Source NHMRC, Bionomics Patent Office Status WIPO Expired

Application no. Patent title Filing date PCT/AU2002/00910 Mutations in ion channels 2002 Inventors John Charles Mulley, Louise Anne Harkin, Leanne Michelle Dibbens, Robyn Heather Wallace, Hilary Anne Phillips, Sarah Elizabeth Heron, Samuel Frank Berkovic, Ingrid Eileen Scheffer Funding Source NHMRC, Bionomics Patent Office Status Patent Office Status Australia Granted European Patent Office Granted New Zealand Granted USA Granted Canada Granted Japan Pending

Application no. Patent title Filing date PCT/AU2002/000581 Novel mutation 2002 Inventors John Charles Mulley, Robyn Heather Wallace, Ingrid Eileen Scheffer Ingrid Scheffer 41

Funding Source NHMRC, Bionomics Patent Office Status Patent Office Status Australia Expired New Zealand Expired Canada Expired USA Expired Japan Expired European Patent Office Expired

Application no. Patent title Filing date AU199656247 Diagnostic and Treatment Methods Relating to Autosomal 1996 Dominant Nocturnal Frontal Lobe Epilepsy Inventors Ortrud Kristina Steinlein, John Charles Mulley, Peter Jurgen Propping, Robyn Heather Wallace, Hilary Anne Phillips, Grant Robert Sutherland, Ingrid Eileen Scheffer, Samuel Frank Berkovic Funding Source NHMRC, Bionomics Patent Office Status Australia Granted

Commercialisation and Industry Involvement I was involved with Bionomics Limited as a consultant for several years beginning in 2004. Our epilepsy research, in collaboration with the Women’s & Children’s Hospital Laboratories, was a core component of this Company at founding. Our work has generated a number of patents (see above) and Bionomics licensed a direct diagnostic application of our genetic research to a number of commercial diagnostic companies (Athena, GTG). I was engaged as a consultant with Athena providing advice regarding the commercial aspects such as target population and marketing of this investigation.

Lectures

Visiting Professor 1. Kobe University, Japan, 8 November 2012. 2. Sydney Children’s Hospital, New South Wales, 27 June 2012. 3. Newcastle Epilepsy Group, UK, 8 September 2011. 4. British Columbia Children’s Hospital, Vancouver, Canada, 18 June 2011. 5. Children’s Hospital Boston, Harvard Medical School, Boston, USA, 9 December 2009. 6. British Columbia Children’s Hospital, Vancouver, Canada, 1-4 December 2008. 7. Royal Children’s Hospital and Royal Brisbane Hospital, Brisbane, Queensland, 11 September 2008.

International Profile 1. Invited Lecture: “Diagnostic algorithms in myoclonic epilepsies”, World Congress of Neurology, Santiago, Chile, 1 November 2015 2. Invited Lecture: “Genetic contributions to the epilepsies”, World Congress of Neurology, Santiago, Chile, 2 November 2015 3. Invited Lecture: “Benign familial neonatal-infantile seizures”, International symposium on Benign Infantile Seizures, The 17th Annual meeting of Infantile Seizure Society. Tokyo, Japan, 25-26 September 2015 4. Invited Lecture: “The great debate: Idiopathic versus Genetic” in Main Session: Classifying seizures and epilepsy: Where are we going? International Epilepsy Congress. Istanbul, Turkey, 6-10 September 2015 Ingrid Scheffer 42

5. Invited lecture: “The epileptology of GLUT1 deficiency”, Glut1 Deficiency Foundation Conference. Orlando, USA, 6-7 July 2015. 6. Plenary Lecture: “Epilepsy Genetics” Japanese Society of Child Neurology Annual meeting. Osaka, Japan, 28-30 May 2015. 7. Plenary Lecture: “Epileptic encephalopathy - can we make a difference?”, 13th Asian & Oceanian Congress of Child Neurology. Taipei, Taiwan, 14-17 May 2015. 8. Keynote Lecture: “Prospective care for children with Dravet syndrome”, 13th Asian & Oceanian Congress of Child Neurology. Taipei, Taiwan, 14-17 May 2015. 9. Invited Lecture: “DEPDC5 epilepsies – a form of tuberous sclerosis lite?”, EMBO workshop: Cortical Development in Health and Disease, Weizmann Institute of Science. Rehovot, Israel, 26-28 April 2015 10. Plenary Lecture: “Epilepsy: How genetic insights are transforming clinical practice”, Frontiers in Neuroscience plenary session, American Academy of Neurology Annual meeting. Washington, USA, 23 April 2015. 11. Invited Lecture: “New genes in the Epileptic Encephalopathies”, 10th International Meeting on CNVs & Genes in Intellectual Disability and Autism. Sicily, Italy, 16-18 April 2015. 12. Invited Lecture: “Dravet syndrome – where does the ketogenic diet sit in practice”, Global symposium for the dietary therapies for epilepsy and other neurological disorders. Liverpool, UK, 7-10 October 2014 13. Invited Chair: “Translation to the clinic”, Epilepsy Genetics in the new era of Precision Medicine. San Francisco, US, 29-30 September 2014 14. Invited Lecture: “KCNQ2 encephalopathy: an emerging disease within the epileptic encephalopathies.” KCNQ2 summit, Denver, US, 20 Septermber 2014 15. Invited Lecture: “The challenges of PCDH19 girls’ only epilepsy”, PCDH19 Professional and Family symposium, San Francisco, US, 6-7 September 2014 16. Invited Lecture: “PCDH19 girls’ only epilepsy – from one family to many girls”, PCDH19 Professional and Family symposium, San Francisco, US, 6-7 September 2014 17. Invited Lecture: “Autosomal dominant nocturnal frontal lobe epilepsy”, Consensus Conference on Nocturnal Frontal Lobe Epilepsy, Bologna, Italy, August 30 - Sept 2 2014. 18. Invited Lecture: “Genetic analysis in the Paediatric Epilepsy Clinic: Present and Future”, 10th Asian and Oceanian Epilepsy Congress, Singapore, 9 August, 2014. 19. Invited Lecture: “The new ILAE classification of seizures and epilepsies – the way forward. Addressing the critical issues emerging from public consultation”. 10th Asian and Oceanian Epilepsy Congress, Singapore, 9 August, 2014. 20. Invited Chair: “How to get your paper published”, 10th Asian and Oceanian Epilepsy Congress, Singapore, 8 August, 2014. 21. Invited Lecture: “Neurocutaneous syndromes”, ASEPA Course “Structural and metabolic causes of epilepsies”, 10th Asian and Oceanian Epilepsy Congress, Singapore, 7 August, 2014. 22. Invited Lecture: “Pediatric genetic epilepsies with focal seizures: PRRT2 and ICCA”, European Congress on Epileptology, Stockholm, Sweden, 29 June - 3 July 2014. 23. Invited Lecture: “Dravet Syndrome: from infancy to adulthood”, European Congress on Epileptology, Stockholm, Sweden, 29 June - 3 July 2014. 24. Invited Lecture: “The impact of public comments: The organization of epilepsies”, European Congress on Epileptology, Stockholm, Sweden, 29 June - 3 July 2014. Ingrid Scheffer 43

25. Plenary Lecture: “Genetics update”, Joint Meeting of the Infantile Seizure Society (ISS) and The Turkish Child Neurology Association, Cappadocia, Turkey, 25-29 June 2014 26. Invited Lecture: “GEFS+: The phenotypic spectrum of GEFS+”, Joint Meeting of the Infantile Seizure Society (ISS) and The Turkish Child Neurology Association, Cappadocia, Turkey, 25-29 June 2014 27. Plenary Lecture: “The revolution in epilepsy genetics changes clinical practice”, International Child Neurology Congress, Iguazu Falls, Brazil, 6 May 2014 28. Invited Lecture: “Dravet syndrome in 2013”, Genetics in infantile epileptic encephalopathy symposium, International Child Neurology Congress, Iguazu Falls, Brazil, 6 May 2014 29. Invited Lecture: “Familial focal epilepsy with variable foci – a common molecular focal epilepsy”, Focal epilepsies: Advances in genetics symposium, International Child Neurology Congress, Iguazu Falls, Brazil, 5 May 2014 30. Invited Chair: Focal epilepsies: Advances in genetics symposium, International Child Neurology Congress, Iguazu Falls, Brazil 5 May 2014 31. Plenary Lecture: “A new era in the classification of the epilepsies”, Taiwanese Epilepsy Society, 22 March 2014 32. Plenary Lecture: “Epilepsy genetics changes clinical practice”, Taiwanese Epilepsy Society, 23 March 2014 33. Keynote Lecture: “How genetics is changing the landscape of epileptic encephalopathies”, Epilepsy research meeting, Kaohsiung, Taiwan 21 March 2014 34. Invited Lecture: “Bedside to bench and back again: how clinical research improves patient care”, Grand Rounds, Kaohsiung, Taiwan 21 March 2014 35. Invited panellist: Rasmussen’s encephalitis. Building Pathways Conference III, Los Angeles, US, 21-23 February 2014. 36. Invited Lecture: “Genetic infantile epileptic encephalopathies: Recognition of phenotypes”, Pediatric Hot Topics symposium, American Epilepsy Society Annual Meeting, Washington, 9 December 2013. 37. Invited Lecture: “Epilepsy Genetics: Translation to clinical practice”, American Epilepsy Society Annual Meeting, Washington, 6 December 2013. 38. Invited Lecture: “Epilepsy limited to females with mental retardation”, American Epilepsy Society Annual Meeting, Washington, 6 December 2013. 39. Invited Lecture: “Genetic testing in epilepsy: What should I be doing?”, American Epilepsy Society Annual Meeting, Washington, 7 December 2013. 40. Invited Lecture: “Fever susceptibility syndromes – predicting outcome”. ILAE Progress in Epilepsy Disorders Workshop – Seizures of onset in the first two years of life, Rome, Italy, 16 November 2013. 41. Invited Chair: “Epilepsy Genetics: new insights change clinical practice”, World Congress of Neurology, Vienna, Austria, 22 September 2013. 42. Invited Lecture: “Adult patients with epileptic encephalopathies: not too late to make a genetic diagnosis”, World Congress of Neurology, Vienna, Austria, 22 September 2013. 43. Invited Lecture: “New Organization of the Epilepsies”, Child Neurology course, World Congress of Neurology, Vienna, Austria, 22 September 2013. 44. Invited Lecture: “Ion channels in epilepsy”, Channelopathies symposium, World Congress of Neurology, Austria, 22 September 2013. 45. Plenary Lecture: “Epilepsy genetics: a successful marriage of next generation sequencing and next generation phenotyping”, 31st International Australasian Winter Conference on Brain Research, Queenstown, New Zealand, 24 August 2013. Ingrid Scheffer 44

46. Invited Lecture: “Listening to the community: modifications to the new organization”, 30th International Epilepsy Congress, Montreal, Canada, 26 June 2013. 47. Invited Chair: “The new organisation of the epilepsies in daily practice”, 30th International Epilepsy Congress, Montreal, Canada, 26 June 2013. 48. Invited Lecture: “What’s new in diagnostics. What genetic tests should I order today in my patients?” 30th International Epilepsy Congress, Montreal, Canada, 25 June 2013. 49. Invited Lecture: “The relationship between paroxsyzmal dyskinesia and epilepsy: Lessons from recent genetic advances”, 7th International Congress of Parkinson’s Disease and Movement Disorders, Sydney, Australia, 16-20 June 2013. 50. Invited Lecture: “Monogenic Epilepsies”, Symposium on transition of children to adult medical care, Paris, France 25-26 May 2013. 51. Invited Lecture: “Advances in epilepsy genetics: Changing clinical practice”, Gesellschaft Neuropädiatrie (GNP), Innsbruck, Austria, 24-28 April 2013. 52. Invited Participant: Dinner Debate: Women in science – education, advancement, career opportunities, and the persistent lack of parity in the sciences. L’Oreal-UNESCO For Women in Science 15th Anniversary Events, Paris, France 27 March 2013. 53. Invited Participant: BIOVISION Prospective Debate: Can we avoid lifestyle diseases individually or collectively, BIOVISION: The World Life Sciences Forum, Lyon, France, 24-26 March 2013. 54. Invited Participant: BIOVISION Prospective Debate: Impact of modern lifestyle on health, BIOVISION: The World Life Sciences Forum, Lyon, France, 24-26 March 2013. 55. Invited Lecture: “Genetic testing in epilepsy: what should you be doing?” BIOVISION: The World Life Sciences Forum, Lyon, France, 24-26 March 2013. 56. Invited Lecture: “Update on the new organisation: where have the modifications taken us?” NAC/ILAE Symposium: Epilepsy classification: hot controversies in 2012, American Epilepsy Society Annual Meeting, San Diego, CA, USA, 30 November – 4 December 2012. 57. Invited Co-Chair: NAC/ILAE Symposium, American Epilepsy Society Annual Meeting, San Diego, CA, USA, 30 November – 4 December 2012. 58. Invited Lecture: “Dravet syndrome: what matters more, seizures or the underlying aetiology?” Outcome of Childhood Epilepsies: Progress in Epileptic Disorders Workshop, The Hague, The Netherlands, 15-18 November 2012. 59. Invited Speaker: “Women in science: an exciting career filled with extraordinary rewards” Kobe University International symposium on Women in Science, Kobe, Japan, 7 November 2012. 60. Invited Speaker: “Clinicopathological conference: The causes of epilepsy” Teaching course, 10th European Congress of Epileptology, London, UK, 4 October 2012. 61. Invited Panellist: Forum on 2010 ILAE Proposal, 10th European Congress of Epileptology, London, UK, 30 September – 4 October 2012. 62. Invited Chair: Forum on 2010 ILAE Proposal, 10th European Congress of Epileptology, London, UK, 30 September – 4 October 2012. 63. Invited Speaker: Dravet syndrome, Athena Diagnostics Webinar Series Two, 7 & 8 September 2012. 64. Invited Plenary: “Vaccinations, gait and Dravet Spectrum Disorders: What medical professionals and caregivers need to know”, Dravet.org 2012 Biennial Conference, Minneapolis South, USA, 17 August 2012 (webinar). 65. Invited Lecture: “Glut1 epilepsies”, International Child Neurology Congress, Brisbane, Australia, 28 May–1 June 2012. Ingrid Scheffer 45

66. Invited Lecture: “The girls only story”, International Child Neurology Congress, Brisbane, Australia, 28 May–1 June 2012. 67. Invited Chair: Use of CNV in child neurology, International Child Neurology Congress, Brisbane, Australia, 30 May 2012. 68. Invited Chair: New molecular technologies in epilepsy, International Child Neurology Congress, Brisbane, Australia, 28 May 2012. 69. Invited Chair: ILAE Classification, International Child Neurology Congress, Brisbane, Australia, 28 May 2012. 70. Invited Speaker: Dravet syndrome, Athena Diagnostics Webinar Series One, 10 & 11 May 2012. 71. Plenary Laureate Lecture: L’Oreal-Unesco Awards 2012 For Women in Science, French Academy of Sciences, Paris, France, 26 March 2012 72. Plenary Lecture: “Epilepsy genetics: the impact on clinical practice”, 9th Asian & Oceanian Epilepsy Congress (AOEC), Manila, Philippines, 23 March 2012. 73. Plenary Lecturer: "Cryptogenic epilepsies in young children revisited in the light of recent discoveries in genetics", Swiss Paediatric Neurology Society, Lausanne, Switzerland, 15-16 March 2012. 74. Invited Lecture: "Epilepsy and deficit in GLUT1", Swiss Paediatric Neurology Society, Lausanne, Switzerland, 15-16 March 2012. 75. Invited Lecture: “ Epilepsy genetics: impact on clinical practice in 2012”, GlaxoSmithKline Luncheon Seminar, The 14th Annual Meeting of ISS: International Symposium on Surgery for Catastrophic Epilepsy in Infants, Tokyo, Japan, 18-19 February 2012. 76. Invited Lecture: “Genetic and autoimmune aetiologies of infantile epilepsies”, The 14th Annual Meeting of ISS: International Symposium on Surgery for Catastrophic Epilepsy in Infants, Tokyo, Japan, 18-19 February 2012. 77. Invited Lecture: “Application of the new ILAE organisation to infantile epilepsy syndromes”, The 14th Annual Meeting of ISS: International Symposium on Surgery for Catastrophic Epilepsy in Infants, Tokyo, Japan, 18-19 February 2012. 78. Invited Lecture: “How do we talk about etiology in the post idiopathic-symptomatic-cryptogenic era? ILAE perspective”, Epilepsy Special Interest Group (SIG), American Epilepsy Society Annual Meeting, Baltimore, Maryland, USA, 3 December 2011 79. Invited Lecture: “Intractable Childhood Epilepsy: Could it be Dravet?”, Athena Breakfast Meeting, American Epilepsy Society Annual Meeting, Baltimore, Maryland, USA, 3 December 2011. 80. Invited Lecture: “Review of Dravet syndrome”, Dravet Syndrome 2nd Annual Research Roundtable, Baltimore, Maryland, USA, 1 December 2011. 81. Invited Lecture: “The genetics of Lennox Gastaut syndrome”, Epilepsy Society of Australia Annual Meeting, Brisbane, Australia, 2-4 November 2011. 82. Invited Lecture: “Genetics of Paediatric Epilepsy”. Coming together on epilepsy genetics: From human to model organisms and back, JAX, Bar Harbor, Maine, USA, 9-11 October 2011. 83. Invited Lecture: “Classification of epilepsy”, The 45th Annual Congress of the Japan Epilepsy Society, Niigata, Japan, 5-7 October 2011. 84. Invited Lecture: “Guidelines for AEDs”, The 45th Annual Congress of the Japan Epilepsy Society, Niigata, Japan, 5-7 October 2011. 85. Osselton Lecture: “Molecular dissection of the infantile epileptic encephalopathies”, North East Epilepsy Research Network Annual Meeting, UK, 9 September 2011. Ingrid Scheffer 46

86. Annual Jacobsen Lecture (plenary): “Advances in the genetics of epilepsy”, Royal Victoria Infirmary, Newcastle, UK, 7 September 2011. 87. Plenary Lecture: “Classification of the epilepsies”, 2nd Jacobsen lecture, Newcastle-upon-Tyne, UK, 8 September 2011. 88. Invited Lecture: “Dravet syndrome: Diagnosis and long term course”, Biocodex Satellite Symposium on Dravet syndrome, 29th International Epilepsy Congress, Rome, Italy, 31 August 2011. 89. Plenary Lecture: “Introduction to the New ILAE Classification of the Epilepsies: why is it time for change?”, 29th International Epilepsy Congress, Rome, Italy, 1 September 2011. 90. Invited Lecture: “Infantile epileptic encephalopathies – Genetics and the impact of the new terminology for classification”, 29th International Epilepsy Congress, Rome, Italy, 30 August 2011. 91. Invited Lecture: “EOEE with SCN1A and PCDH19 mutations”, Genetically determined early-onset epileptic encephalopathies (EOEE): from phenotype to diagnostic algorithms, Florence, Italy, 27 August 2011. 92. Invited Chair: Genetically determined early-onset epileptic encephalopathies (EOEE): from phenotype to diagnostic algorithms, Florence, Italy, 26 August 2011. 93. Invited Lecture: “EOEE with STXBP1 abnormalities”, Genetically determined early-onset epileptic encephalopathies (EOEE): from phenotype to diagnostic algorithms, Florence, Italy, 27 August 2011. 94. Distinguished Tibbles Lecture: “Advances in Genetics of Epilepsies”, Canadian Neurological Sciences Federation (CNSF) 46th Annual Congress, Vancouver, Canada, 15-17 June 2011. 95. Invited Lecture: “Infantile epileptic encephalopathies”, Canadian Neurological Sciences Federation (CNSF) 46th Annual Congress, Vancouver, Canada, 15-17 June 2011. 96. Invited Lecture: “Update on the revised classification of the Epilepsies”, Canadian Neurological Sciences Federation (CNSF) 46th Annual Congress, Vancouver, Canada, 15-17 June 2011. 97. Workshop Participant: “Classification on Non-Convulsive Status Epilepticus”, 3rd London-Innsbruck Colloquium on Status Epilepticus, Oxford, UK, 10 April 2011. 98. Invited Lecture: “A Clinical Perspective on a New Taxonomy: Epilepsy”, The National Academies of Science: Framework for Developing a New Taxonomy of Disease, Washington USA, 1-2 March 2011 99. Invited Lecture: “Copy number variation in the epilepsies”, Translational Workshop, American Epilepsy Society Annual Meeting, San Antonio, USA, 4 December 2010. 100. Invited Lecture: “Collaborative research proposals in the Asian Oceanian region: Paediatric Epileptology”, 8th Asian & Oceanian Epilepsy Congress, Melbourne, Australia, 20-24 October 2010. 101. Invited Lecture: “Syndromes of Epilepsy and Intellectual Disability”, 8th Asian & Oceanian Epilepsy Congress, Melbourne, Australia, 20-24 October 2010. 102. Invited Chair: “Parallel Session - Epilepsy and Intellectual Impairment”, 8th Asian & Oceanian Epilepsy Congress, Melbourne, Australia, 20-24 October 2010. 103. Invited Chair: “Case Presentations” International Symposium on dietary treatments for epilepsy and other neurological disorders, Edinburgh, Scotland, 8 October 2010. 104. Invited Lecture: “Insights into aetiology: a perfect mimic?” International Symposium on dietary treatments for epilepsy and other neurological disorders, Edinburgh, Scotland, 5-8 October 2010. 105. Invited Chair: “Autoantibodies causing seizures – more than an association”, Immunity and Inflammation in Epilepsy: Mechanistic insights and therapeutic perspectives, Milan, Italy, 16-18 September 2010. Ingrid Scheffer 47

106. Invited Lecture: “Vaccines and seizures: the pathomechanistic view (SCN1A and immunisation/“Vaccine Encephalopathy”)”, Immunity and Inflammation in Epilepsy: Mechanistic insights and therapeutic perspectives, Milan, Italy, 16-18 September 2010. 107. Invited Lecture: “Phenotyping standards and obtaining uniformity”, NIH Workshop on the Genetics of Epilepsy, National Institute of Neurological Disorders and Stroke, San Diego, USA, 1 September 2010 108. Invited Lecture: “Diversity of phenotypes in Mendelian epilepsies”, NIH Workshop on the Genetics of Epilepsy, National Institute of Neurological Disorders and Stroke, San Diego, USA, 31 August 2010. 109. Plenary Lecture: “The genetics of the epilepsies”, Paediatric epilepsy symposium, Daegu, Korea, 5 June 2010 110. Invited Speaker: “The new classification of the epilepsies”, Paediatric neurology seminar, Severance Hospital, Seoul, Korea, 4 June 2010 111. Invited Chair: “Oral Platform Session – Epilepsy IV”, International Child Neurology Congress (ICNC), Cairo, Egypt, 2-7 May 2010. 112. Plenary Lecture: “The genetics of epilepsy”, International Child Neurology Congress (ICNC), Cairo, Egypt, 2-7 May 2010. 113. Invited Lecture: “GEFS, Dravet and EFMR – gene testing and interpretation”, American Epilepsy Society Annual Meeting, Boston, USA, 4-8 December 2009. 114. Invited Lecture: “Unravelling the complex story of epilepsy genetics”, Children’s Hospital Boston, Harvard Medical School Grand Rounds series, Boston, USA, 9 December 2009. 115. Professor R Gulati Oration: “Epilepsy genetics: A simple tale becoming increasingly complex”, Postgraduate Institute of Medical Education and Research, Chandigarh, India, 30 October 2009. 116. Invited Lecture: “Meet the expert session: Difficult to control epilepsy”, International Conference of Pediatric Neurology and Epilepsy, Chandigarh, India, 29 October-1 November 2009. 117. Invited Lecture: “Genetics of epilepsy: Clinical implications”, International Conference of Pediatric Neurology and Epilepsy, Chandigarh, India, 29 October-1 November 2009. 118. Invited Lecture: “Catastrophic epilepsies of infancy”, International Conference of Pediatric Neurology and Epilepsy, Chandigarh, India, 29 October-1 November 2009. 119. Invited Lecture: “Epilepsy genetics”, World Congress of Neurology, Bangkok, 28 October 2009. 120. Invited Lecture: “Long term course in Dravet syndrome”, Workshop on Dravet syndrome, Verona, Italy, 4-6 October 2009. 121. Invited Lecture: “Vaccination encephalopathy and SCN1A mutations”, Workshop on Dravet syndrome, Verona, Italy, 4-6 October 2009. 122. Invited Lecture: “Genotype-Phenotype correlation in Dravet syndrome”, Workshop on Dravet syndrome, Verona, Italy, 4-6 October 2009. 123. Invited Panellist: The Ketogenic Diet - A clinical update, Webinar www.shs-nutrition.com/shs- registration/ketodiet, 16 September 2009. 124. Invited Lecture: “Paradigms for validating and modifying phenotypes: the use of genetics and imaging”, Progress and future directions in the classification of the epilepsies, 28th International Epilepsy Congress, Budapest, 28 June-2 July 2009. 125. Invited Lecture: “Clinical genetics: Relationship between developmental age and presentation of different epilepsy syndromes?” Brain development, plasticity and epilepsy, 28th International Epilepsy Congress, Budapest, 28 June-2 July 2009. 126. Invited Chair: Symposium of the Genetics Commission, 28th International Epilepsy Congress, Budapest, 28 June-2 July 2009. Ingrid Scheffer 48

127. Plenary Lecture: “Genetics of epilepsy in childhood: an overview”, 10th Asian and Oceanian Congress of Child Neurology, Daegu, Korea, June 2009. 128. Invited Lecture: “Genes responsible for catastrophic epileptic encephalopathies”, 10th Asian and Oceanian Congress of Child Neurology, Daegu, Korea, June 2009. 129. Plenary Lecture: “Epilepsy genetics: a simple tale becoming increasingly complex”, Australian and New Zealand Child Neurology Society, Auckland, New Zealand, 4 May 2009 130. Award Plenary Lecture: Mackeith Lecturer, “What’s hot in epilepsy genetics?” British Paediatric Neurology Association, Birmingham, UK, 29-30 January 2009. 131. Plenary Chair: “Dravet syndrome: Translational research from mouse to man”, American Epilepsy Society, Seattle, USA, 9 December 2008. 132. Plenary Lecture: “SCN1A phenotypes: from febrile seizures to Dravet syndrome”, American Epilepsy Society, Seattle, USA, 9 December 2008. 133. Invited Lecture: “The genetics of absence seizures when part of the idiopathic generalized epilepsies”, American Epilepsy Society, Seattle, USA, 5 December 2008. 134. Named Plenary Lecture: Henry Dunn lecture in paediatric neurology, “What’s hot in epilepsy genetics?” Vancouver General Hospital, Vancouver, Canada, December 2008. 135. Invited Discussant: Paediatric epilepsy cases, British Columbia Children’s Hospital, Vancouver, Canada, 3-4 December 2008. 136. Plenary Lecture: “Diagnostic and therapeutic challenges in childhood epilepsy: Current status and future directions”, 6th Biennial convention of Child Neurology Society of the Philippines, Manila, Philippines, 27 November 2008. 137. Workshop Panel: “Visual diagnosis and paediatric EEG interpretation”, 6th Biennial convention of Child Neurology Society of the Philippines, Manila, Philippines, 27 November 2008. 138. Plenary Lecture: “Emerging epilepsy syndromes in infancy and childhood”, 6th Biennial convention of Child Neurology Society of the Philippines, Manila, Philippines, 27 November 2008. 139. Invited Lecture: “Genetics of Epilepsy”, Controversies in Neurosurgery, Melbourne, Australia, 20-21 November 2008. 140. Invited Lecture: “Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy of infancy”, Scientific meeting in honour of Fred and Eva Andermann, Montreal, Canada, 23-25 October 2008. 141. Invited Commission Member: Developing a new classification of the epilepsies, ILAE Classification Commission meeting, Paris, France, 28-29 June 2008. 142. Invited Lecture: “Epilepsy classification: Where are we heading?” Asian and Oceanian Epilepsy Congress, Xiamen, China, 15-18 May 2008. 143. Chair: “Diagnostic Issues in Paediatric Epileptology”, Asian and Oceanian Epilepsy Congress, Xiamen, China, 15-18 May 2008. 144. Invited Lecture: “Are all genetic epilepsies linked to ionic channels?” Asian and Oceanian Epilepsy Congress, Xiamen, China, 15-18 May 2008. 145. Chair: “Epilepsy Classification”, Asian and Oceanian Epilepsy Congress, Xiamen, China, 15-18 May 2008. 146. Invited Lecture: “Dravet syndrome or GEFS+”, 11th Annual Meeting of the Infantile Seizure Society: International symposium on febrile seizures and related conditions, Otsu, Japan, 10-11 April 2008. 147. Invited Lecture: “How has genetics helped us to understand the neurobiology of epilepsy?” Kuopio Epilepsy Symposium, Kuopio, Finland, 29 March 2008. Ingrid Scheffer 49

148. Invited Lecture: “Spectrum of epileptic encephalopathies associated with SCN1A mutations”, Children’s Hour, American Epilepsy Society, Philadelphia, USA, 4 December 2007. 149. Invited Lecture: “Genetics of Epilepsy”, John F. Fulton Society: Epilepsy – The Overexcited Brain, American Neurological Association 132nd annual meeting, Washington, USA, 8 October 2007. 150. Invited Workshop Participant: “Initial guidelines for the management of infants with epilepsy”, WHO/ILAE workshop, European Paediatric Neurology Society Congress, Izmir, Turkey, 29 September 2007. 151. Chair: “Febrile seizures and epilepsy: What is the link?” IBRO World Congress of Neuroscience Special Interest Forum, Melbourne, 15 July 2007. 152. Invited Lecture: “Febrile seizures and epilepsy: A genetic link and what it means for patients and families”, IBRO World Congress of Neuroscience Special Interest Forum, Melbourne, 15 July 2007. 153. Invited Lecture: “Translating discoveries of epilepsy genes into cures”, AES Session – Curing Epilepsy in 2007, 27th International Epilepsy Congress, Singapore, 11 July 2007. 154. Invited Lecture: “Genetic variations in human epilepsies: terminology and biological significance”, Epilepsy Genetics in the 21st Century: Building Bridges from the Laboratory to Patient Care, 27th International Epilepsy Congress, Singapore, 9 July 2007. 155. Invited Lecture: “Case presentations and presentation of levetiracetam paediatric clinical data”, Keppra Paediatric Launch, Singapore, 8 July 2007. 156. Invited Lecture: “Novel clinical approaches to the genetics of the epilepsies”, NINDS meeting “Curing epilepsy – targets and technologies for new therapies”, NIH Bethesda, USA, 29 March 2007 157. Platform Presentation: “Severe Infantile Multifocal Epilepsy: A new SCN1A phenotype”, Pediatric Epilepsy Highlights Session, San Diego, USA, 5 December 2006. 158. Invited Lecture: “De-novo mutations of the sodium channel gene in SCN1A in alleged vaccine encephalopathy: a retrospective study”, LiveMed presentation, San Diego, USA, 4 December 2006. 159. Invited Lecture: “SCN1A phenotypes: to lump or to split?” ILAE Classification Commission meeting, San Diego, USA, 5 December 2006. 160. Invited Lecture: “Gene discoveries in the epilepsies”, American Epilepsy Society, San Diego, USA, 2 December 2006. 161. Chair: UCB Paediatric Scientific Advisory Board meeting, International Child Neurology Association Conference, Montreal, Canada, 14 June 2006. 162. Invited Lecture: “The Australian perspective in management of childhood epilepsies” UCB Paediatric Scientific Advisory Board meeting, International Child Neurology Association Conference, Montreal, Canada, 14 June 2006. 163. Invited Lecture: “Genetic Advances and Dissection of the Generalized Epilepsies”, 10th International Child Neurology Association Conference, Montreal, Canada, 13 June 2006. 164. Invited Lecture: “New insights into Dravet syndrome” UK UCB epilepsy workshop, Montreal, Canada, 12 June 2006. 165. Invited Lecture: “New Insights into Provoked Convulsions”, Anoxic-epileptic seizures (AES) and related topics Workshop, Montreal Neurological Institute, Montreal, Canada, 11 June 2006. 166. Invited Lecture: “New insights into Dravet syndrome” Paediatric neurology meeting, The E Wolfson Medical Center, Tel Aviv, Israel, 15 May 2006. 167. Plenary Lecture: “Febrile seizures – more than genetic heterogeneity?” Congress of the French and German Leagues against epilepsy, Strasbourg, France, 4 May 2006. Ingrid Scheffer 50

168. Invited Lecture: “Translating Dravet into SCN1A: The cycle of bedside to bench research”, The Great Ormond Street Hospital for Sick Children Neurosciences Seminar, London, UK, 29 March 2006. 169. Invited Debate: “In the future gene testing will replace syndromic diagnosis in the management of the epilepsies” Paediatric Epilepsy Training Course, British Paediatric Neurology Association, Edinburgh, Scotland, 27 March 2006. 170. Plenary Lecture: “Genetics of epilepsy” Paediatric Epilepsy Training Course, British Paediatric Neurology Association, Edinburgh, Scotland, 27 March 2006. 171. Discussant: “What is the place of genetics in epilepsy?” UK Epilepsy Research Foundation Scientific Workshop, Oxford, UK, 22–24 March 2006. 172. Chairperson: Channelopathies session, World Congress of Neurology, Sydney, Australia, 5–11 November 2005. 173. Plenary Lecture: “The genetics of childhood epilepsy” World Congress of Neurology, Sydney, Australia, 5–11 November 2005. 174. Panel Member: “Genomic Neurology: a Primer” session – “How genetics has changed the game at the clinic” World Congress of Neurology, Sydney, Australia, 5–11 November 2005. 175. Plenary Lecture: “Ion channel disorders: clinical manifestations”, World Congress of Neurology. Sydney, Australia, 5–11 November 2005. 176. Topic Chair: Scientific Organising Committee: 26th International Epilepsy Congress, Paris, France, 28 August–1 September 2005. 177. Invited Lecture: “Genes and syndromes” conference highlights, 26th International Epilepsy Congress, Paris, France, 28 August–1 September 2005. 178. Invited Lecture: “Epilepsy syndromes with sodium channel defects”, 26th International Epilepsy Congress, Paris, France, 28 August–1 September 2005. 179. Chairperson: Plenary session: “Epilepsy genes: exploring function and clinical significance”, 26th International Epilepsy Congress, Paris, France, 28 August–1 September 2005. 180. Chairperson: Post-main session “Epilepsy genes: Complex inheritance”, 26th International Epilepsy Congress, Paris, France, 28 August –1 September 2005. 181. Invited Lecture: “Benign Familial Neonatal-Infantile Seizures”, International Workshop on Paroxysmal Disorders in Infancy, Isle of Islay, Scotland, 9–14 May 2005. 182. Invited Lecture: “Severe Myoclonic Epilepsy of Infancy”, International Workshop on Paroxysmal Disorders in Infancy, Isle of Islay, Scotland, 9–14 May 2005. 183. Chairperson: “Dravet Syndrome/SMEI–Molecular Genetics”, International Symposium on Epileptic Syndromes in Infancy and Early Childhood: Evidence-based Taxonomy and its Implications in the ILAE Classification, Infantile Seizure Society, Tokyo, Japan, 29 April–1 May 2005. 184. Invited Lecture: “SCN1A mutations: from benign seizure disorders to epileptic encephalopathies”, International Symposium on Epileptic Syndromes in Infancy and Early Childhood: Evidence-based Taxonomy and its Implications in the ILAE Classification, Infantile Seizure Society, Tokyo, Japan, 29 April–1 May 2005. 185. Invited Lecture: “The role of genetics and ethnicity in epilepsy management”, UCB Global Epilepsy Summit, Cape Town, South Africa, 22 January 2005. 186. Invited Lecture: “Neonatal epilepsy syndromes and GEFS+”, American Epilepsy Society Annual Course, New Orleans, USA, 5 December 2004. 187. Invited Lecture: “Myoclonic epilepsy syndromes”, Asian Oceanian Epilepsy Congress, Bangkok, Thailand, 29 August 2004. Ingrid Scheffer 51

188. Plenary Lecture: “Finding epilepsy genes - where does it take us?” Brazilian Epilepsy Congress, Ribeirão Preto, Brazil, 2–4 June 2004. 189. Plenary Lecture: “Generalized epilepsy with febrile seizures plus”, Brazilian Epilepsy Congress, Ribeirão Preto, Brazil, 2–4 June 2004. 190. Invited Lecture: “Clues and strategies for identification of epilepsy genes”, Brazilian Epilepsy Congress, Ribeirão Preto, Brazil, 2-4 June 2004. 191. Invited Lecture: “Epilepsy associated with chromosomal and genetic syndromes”, Epilepsy Society of Australia, Auckland, New Zealand, 12 November 2003. 192. Chairperson: Platform session: “Genetics”, 25th International Epilepsy Congress, Lisbon, Portugal, 14 October 2003. 193. Invited Lecture: “Genetic associations with epilepsy syndromes”, Merritt-Putnam Symposium, 25th International Epilepsy Congress, Lisbon, Portugal, 12 October 2003. 194. Plenary Lecture: “Impact of recent discoveries in epilepsy genetics for the child neurologist”, Child Neurology Society, Miami, USA, 2–4 October 2003. 195. Invited Lecture: “The clinician’s perspective”, Merritt-Putnam Symposium, American Epilepsy Society, Seattle, USA, 7 December 2002. 196. Invited Lecture: “Severe myoclonic epilepsy of infancy and GEFS+ syndrome”, International Symposium on Myoclonic Epilepsies, American Epilepsy Society, Seattle, USA, 5–6 December 2002. 197. Invited Lecture: “GEFS+ and myoclonic-astatic seizures”. International Symposium on Myoclonic Epilepsies, American Epilepsy Society. Seattle, USA, 5–6 December 2002. 198. Discussant: “SMEI and infantile spasms: role of SCN1A”. International Symposium on Myoclonic Epilepsies, American Epilepsy Society. Seattle, USA, 5–6 December 2002. 199. Invited Lecture: “Recent advances in the genetics of the epilepsies”. International Child Neurology Association Meeting and Asian Oceanian Child Neurology Association Meeting. Beijing, China, September 2002. 200. Invited Lecture: “GABA genes in human epilepsy”. International Child Neurology Association Meeting and Asian Oceanian Child Neurology Association Meeting, Beijing, China, September 2002. 201. Invited Lecture: “Genetics of paediatric epilepsy”, Cleveland Clinic Epilepsy Symposium, Cleveland, USA, May 2002. 202. Plenary Lecture: “Epilepsy Channelopathies – the prototypes for the idiopathic epilepsies”, Epilepsy Channelopathies Paediatric workshop, Wellington, New Zealand, 19 April 2002. 203. Invited Lecture: “Catastrophic Epilepsies of childhood and adolescence”, Epilepsy Channelopathies Paediatric workshop, Wellington, New Zealand, 19 April 2002. 204. Invited Lecture: “Epilepsy syndromes”, Epilepsy Channelopathies Paediatric workshop, Wellington, New Zealand, 19 April 2002. 205. Discussant: “Paediatric epilepsy cases”, Epilepsy Channelopathies Paediatric workshop, Wellington, New Zealand, 19 April 2002. 206. Invited Lecture: “Acetylcholine receptor mutations in ADNFLE”, Bethel-Cleveland International Epilepsy Symposium, Bielefeld, Germany, 27 June–1 July 2001. 207. Invited Lecture: “Clinical forms and modes of inheritance of the generalized epilepsies”, 24th International Epilepsy Congress, Buenos Aires, Argentina, May 2001. 208. Invited Lecture: “Genetic approach to infantile spasms”, International symposium on West syndrome, The 4th Annual Meeting of the Infantile Seizure Society. Tokyo, Japan, 9–11 February 2001. Ingrid Scheffer 52

209. Invited Lecture: “Clinical and molecular genetics of severe myoclonic epilepsy in infancy and myoclonic-astatic epilepsy”, International Symposium on West Syndrome, The 4th Annual Meeting of the Infantile Seizure Society, Tokyo, Japan, 9–11 February 2001. 210. Invited Lecture: “Genetics of epilepsy”, Comprehensive Review and Practical Exercises, Cleveland, USA, 23 June 2000. 211. Platform Presentation: “Genotype-phenotype correlation in a family with epilepsy due to a sodium channel mutation”, International Epilepsy Congress, Prague, Czechoslovakia, 12–16 September 1999. 212. Invited Lecture: “Autosomal dominant nocturnal frontal lobe epilepsy: clinical and genetic heterogeneity”, International Epilepsy Congress, Prague, Czechoslovakia, 12–16 September 1999. 213. Invited Lecture and Discussant: “Autosomal dominant rolandic epilepsy with speech dyspraxia”, Conference on the Spectrum of Rolandic Epilepsy, Kiel, Germany, 9–12 September 1999. 214. Invited Lecture and Discussant: “Autosomal dominant nocturnal frontal lobe epilepsy”, Workshop on the Benign Focal Epilepsies of Childhood: Genetically Determined Pathophysiology, Houston, USA, 11– 12 June 1999. 215. Invited Lecture: “Overview of familial epilepsy”, Workshop on Epilepsy and Movement Disorders in Children, Pisa, Italy, 29–31 March 1998. 216. Invited Lecture: “Rolandic epilepsy and speech dyspraxia”, Workshop on Epilepsy and Movement Disorders in Children, Pisa, Italy, 29–31 March 1998. 217. Invited Lecture: “Genetics of generalized epilepsies”, 22nd International Epilepsy Congress, Dublin, 2 July 1997. 218. Invited Lecture: “Idiopathic partial epilepsy syndromes”, Canadian Congress of Neurological Sciences, Saskatoon, Canada, 25 June 1997. 219. Invited Lecture: “Speech dyspraxia and focal epilepsy”, Genetics of Focal Epilepsies: Experimental and Clinical Correlates, Workshop, Avignon, France, 7–10 September 1996. 220. Invited Lecture: “Autosomal dominant nocturnal frontal lobe epilepsy and autosomal dominant epilepsy with variable foci”, Genetics of Focal Epilepsies: Experimental and Clinical Correlates, Workshop, Avignon, France, 7–10 September 1996. 221. Platform Presentation: “Autosomal dominant partial epilepsy with variable foci is not allelic with autosomal dominant nocturnal frontal lobe epilepsy”, 21st International Epilepsy Congress, Sydney, September 1995. 222. Invited Lecture: “Generalized epilepsies and febrile seizures”, 21st International Epilepsy Congress, Sydney, September 1995. 223. Plenary Lecture: “Paediatric epilepsies”, Epilepsy Management Forum for Paediatricians and Neurologists, Turangi, New Zealand, 1 April 1995. 224. Platform Presentation: “Autosomal dominant rolandic epilepsy and speech dyspraxia: A new syndrome with anticipation”, American Epilepsy Society Annual Meeting, New Orleans, December 1994. 225. Platform Presentation: “Familial band heterotopias: an X-linked dominant disorder with variable severity”, International Child Neurology Association, and Child Neurology Society, combined meeting, San Francisco, October 1994. 226. Awarded Junior Investigator Award for the American Epilepsy Society – I.E. Scheffer. Platform presentation: “Autosomal dominant frontal lobe epilepsy: A new syndrome”, American Epilepsy Society, Miami, 1993. 227. Platform Presentation: “Phenotypic heterogeneity in an exceptional multiplex family with generalized epilepsy”, American Epilepsy Society, Seattle, USA, December 1992. Ingrid Scheffer 53

228. Platform Presentation: “Pelizaeus-Merzbacher Disease: Classical or connatal?” British Paediatric Neurology Association, Dublin, 1990.

National Profile 229. Invited Lecture: “The new classification of status”, Epilepsy Society of Australia, Melbourne, Australia, 5-7 November 2014. 230. Invited Lecture: “Epilepsy Genetics”, Australasian Neurogenetics Conference, Brisbane, Australia, 11- 12 September 2014. 231. Plenary Lecture: “Epilepsy Genetics transforms clinical practice”, Hospital Week seminar, Westmead Hospital, Sydney, Australia 27 August 2014. 232. Invited Lecture: “Shedding light on the sacred disease – epilepsy genes reveal novel mechanisms”, Science at the Shine Dome 2014, Australian Academy of Science. 26-29 May 2014. 233. Invited Lecture: “Focal epilepsy: Is it genetic?”Epilepsy Society of Australia Annual Meeting, Sydney, Australia, 7 November 2013. 234. Eccles Plenary Lecture: Neurosurgical Society of Australasia Annual Meeting, Queensland, Australia, 3-5 October 2013. 235. Cairns Society Lecture: “Debate: The new Organization of the epilepsies in daily practice”, Adelaide, Australia 15 August 2013. 236. Mervyn Eadie Plenary Lecture: “Is the epilepsy exome changing clinical practice?” Australian & New Zealand Association of Neurologists Annual Meeting, Sydney, Australia, 6-9 May 2013. 237. Invited Lecture: “Adolescents and epilepsy” ANZAN Registrar Training, Melbourne, Australia, 18 May 2013. 238. Invited Lecture: “Massively parallel sequencing massively alters clinical practice” Australian and New Zealand Child Neurology Society annual meeting, Sydney, Australia, 4 May 2013. 239. Invited Lecture: “The prolonged seizure and clusters”, ESA Clinical Epilepsy Course, Melbourne, Australia, 22 February 2013. 240. Eccles Plenary Lecture: “Deciphering the epilepsy genome: Impact on clinical practice”, Australian Neuroscience Society Annual Meeting, Melbourne, Australia, 3-6 February 2013. 241. Invited Lecture: “Genetics of neonatal and infantile epileptic encephalopathies”, Translational Research Symposium, Epilepsy Society of Australia Annual Meeting, Hobart, Tasmania, Australia, 31 October 2012. 242. Tracy Maund Orator: “A woman’s work is never done: Balancing scientific excellence with life’s challenges”, Royal Women's Hospital, Parkville, Melbourne, Australia, 17 October 2012. 243. Invited Lecture: “Paroxysmal neurological events – the new genetics solves age-old questions”, ICT for Life Sciences Forum, Melbourne, Australia, 15 October 2012. 244. Invited Lecture: “PRRT2: A gene for infantile convulsions and paroxysmal dyskinesia”, Second Annual Meeting of Melbourne Epilepsy, Melbourne, Australia, 12 September 2012. 245. Invited Lecture: “Epilepsy genetics: exciting insights from molecular and phenotypic discoveries”, Human Variome Project Seminar Series, Melbourne, Australia, 27 August 2012. 246. Invited Lecture: L'Oréal Australia and New Zealand For Women In Science Fellowships Award Ceremony, Melbourne, Australia, 21 August 2012. 247. Invited Lecture: “Clinical research: What makes it real science?”, Women in Medical Research: Passionate Minds, Melbourne, Australia, 3 July 2012. Ingrid Scheffer 54

248. Invited Lecture: “Genetics of Infantile Epileptic Encephalopathies”, Sydney Children’s Hospital, Sydney, Australia, 27 June 2012. 249. Invited Lecture: “Taking Epilepsy Classification into the 21st Century”, Grand Rounds Sydney Children’s Hospital, Sydney, Australia, 27 June 2012. 250. Invited Lecture: “Communicating Science”, SOBR From the lab to the layman: Communicating science to the public dinner, Melbourne, Australia, 24 May 2012. 251. Invited Chair: BioAutism Symposium, Brisbane, Australia, 27 January 2012. 252. Invited Chair: “Different Applications from Neurodevelopmental Disorders”, Frontiers in Neurogenetics and Brain Imaging Symposium, Monash University, Melbourne, 15 September 2011. 253. Plenary Lecture: “The Classification of the Epilepsies: Times are a-changing”, 8th Update for General Paediatricians at Monash Children’s, Monash Medical Centre, Melbourne, Australia, 3 June 2011. 254. Chair and Program director: Second Australian and New Zealand Dravet family Conference, Lecture: “Dravet syndrome: the past, the present, the future”, Melbourne, Australia, 19 March 2011. 255. Chair: BioAutism Symposium, Melbourne. Australia, 16 February 2011. 256. Invited Lecture: “Copy number variants in the epilepsies”, Copy Number Variants (CNVs) and Single Nucleotide Variants (SNVs) in health and disease, Australian Health and Medical Research Congress (AH&MRC), Melbourne, Australia, 17 November 2010. 257. Invited Lecture: “The New Classification of the Epilepsies”, ANZCNS, Melbourne, Australia, 21 May 2010. 258. Invited Chair: “Genetics of Complex Diseases”, Australian and New Zealand Association of Neurologists Annual Meeting, Melbourne, Australia, 18 May 2010. 259. Invited Lecture and Panellist: “Seizure disorders and epilepsy: What test, what drug and what’s new?” VicFEAT 2009, Melbourne, Australia, 18 November 2009 260. Invited Chair: “Neurodegeneration 1: Alzheimer’s Disease, Motor neuron disease, Multiple Sclerosis”, Australian Society for Medical Research NSC: Neurogenetics on the Apple Isle, Hobart, Australia, 16 November 2009 261. Invited Lecture: “Epilepsy Genetics: A simple tale becomes increasingly complex”, Australian Society for Medical Research NSC: Neurogenetics on the Apple Isle, Hobart, Australia, 16 November 2009 262. Invited Chair: “Equine epilepsy: what’s unique”, Epilepsy Society of Australia Annual Scientific Meeting, Perth, Australia, 2-4 November 2009 263. Invited Lecture: “Neurologist’s Perspective - Ethics and Epilepsy Genetics: to test or not to test”, Epilepsy Society of Australia Annual Scientific Meeting, Perth, Australia, 2-4 November 2009 264. Invited Panellist: Webinar: The Ketogenic Diet – a clinical update, 16 September 2009, www.shs- nutrition.com/shs-registration/ketodiet 265. Plenary Lecture: “Epilepsy genetics: a simple tale becoming increasingly complex”, Australian and New Zealand Child Neurology Society, Auckland, New Zealand, 3 May 2009 266. Plenary Lecture: “The value of phenotyping in understanding complex genetics”, Genemappers Conference, Katoomba, NSW, 14-17 April 2009 267. Invited Lecture: “Bedside to bench and back – The sodium channel and epilepsy”, A decade and a half of achievement under the directorship of Professor Geoffrey Donnan, Melbourne, 6 March 2009. 268. Invited Chair and Program director: Paediatric epilepsy cases and interactive teaching with paediatricians, Australian Autumn Paediatric Epilepsy Summit, Sydney, 28 February-1 March 2009. Ingrid Scheffer 55

269. Invited Lecture: “Sodium channels in man to interneuronopathy in mouse”, Epilepsy Interest Group Meeting, Brisbane, 11 September 2008. 270. Invited Lecture: “Seizures and syndrome classification”, Royal Children’s Hospital Paediatric Teaching session, Brisbane, 11 September 2008. 271. Invited Lecture: “Genetics of epilepsy”, Epilepsy Interest Group Meeting, Brisbane, 11 September 2008. 272. Invited Discussant: Cases, Epilepsy Interest Group Meeting, Brisbane, 11 September 2008. 273. Invited Lecture: “Generalized epilepsies: Seizures and syndrome classification”, Australian and New Zealand Association of Neurology National Brain School, Melbourne, 10 September 2008. 274. Organiser, Chair and Program director: Inaugural Australian and New Zealand Dravet family conference, Lecture: “Recent discoveries in Dravet syndrome”, Melbourne, 23 August 2008. 275. Invited Lecture: “Genetics of epilepsy”, Australian and New Zealand Association of Neurology Annual Meeting, Brisbane, 22 May 2008. 276. Chair and Moderator: Paediatric epilepsy cases and interactive teaching with paediatricians, Australian Autumn Paediatric Epilepsy Summit, Melbourne, 1-2 March 2008. 277. Invited Lecture: “Sodium Channels and epilepsy: a hot association”, Human Brain Diseases Symposium, Florey Neuroscience Institutes, Melbourne, 12 November 2007. 278. Chair: Status Epilepticus Symposium, Epilepsy Society of Australia Annual Scientific Meeting, Adelaide, Australia, 7 November 2007. 279. Invited Lecture: “Epilepsy limited to females with mental retardation”, Human Genetics Society of Australia NSW, Newcastle, 2 November 2007. 280. Invited Lectures (6 topics) and Teaching Day: South East Queensland Paediatric Neurology Teaching Day for Paediatricians, Gold Coast, QLD, 21 September 2007 281. Plenary Lecture: “The revolution in epilepsy genetics: Impact on clinical practice”, Royal Australian College of Physicians annual meeting, Melbourne, 8 May 2007 282. Professorial Lecture: “What’s hot in Dravet syndrome?” Australia and New Zealand Child Neurology Society, Melbourne, 5 May 2007 283. Chair: Keppra Paediatric Launch, Australian Autumn Epilepsy Summit, Sydney, 3 March 2007. 284. Invited Lecture: “Keppra (levetiracetam): Australian experience with Keppra”, Australian Epilepsy Summit, Sydney, 3 March 2007. 285. Paediatric Case Studies Facilitator, Keppra Paediatric Launch, Australian Epilepsy Summit, Sydney, 3 March 2007. 286. Chair: Merritt-Putnam symposium “Optimising epilepsy treatments in the pharmacogenomic age”, Epilepsy Society of Australia Annual meeting, Melbourne, 7 October 2006. 287. Plenary Lecture: “Understanding childhood epilepsy: From bedside to bench and back again”, CYWHS MS McLeod research seminar, Adelaide, 30 August 2006. 288. Invited Lecture: “Genetic epilepsies: identification, clinical features, which genetic tests to order”, Epilepsy Society of Australia, Cairns, 13–15 April 2005. 289. Plenary Lecture: “Keppra: Paediatric data”, UCB Satellite symposium, Cairns, 12 April 2005. 290. Invited Lecture: “What can or will genetics tell us about the prognosis of epilepsy?” Epilepsy Society of Australia, Sydney, 5 November 2004. Ingrid Scheffer 56

291. Platform Presentation: “Epilepsy and mental retardation limited to females (EFMR): Under- recognition of a remarkable phenotype and linkage to Xq22”, Epilepsy Society of Australia, Sydney, 4 November 2004. 292. Plenary Lecture: “Through adolescent eyes”, Epilepsy Association Seminar, Sydney, 2 November 2004. 293. Invited Lecture: “Targeting treatment to epilepsy syndromes”, Paediatric workshop, Adelaide, 19 August 2004. 294. Invited Lecture: “Epilepsy: Recognition of syndromes and management”, Grand Rounds Katherine Hospital, Katherine, NT, 1 July 2004. 295. Invited Lecture: “Revelations of the genetics of epilepsy”, Sydney Children’s Hospital Annual Paediatric Meeting, Sydney, 25 March 2004. 296. Invited Lecture: “Adolescent and paediatric experience with levetiracetam: personal and published experience”, National Keppra launch, Melbourne, 12 March 2004. 297. Invited Lecture: “Genetics of epilepsy”, Paediatric Neurosurgeons of Australasia meeting, Melbourne, 2 November 2003. 298. Invited Lecture & Discussant (Paediatric Cases): “Treatment guidelines in the use of anticonvulsants in paediatric epilepsy”, Lecture and case study workshop, Paediatric Epilepsy Workshop, Sydney, 21 June 2003. 299. Chair & Invited Lecture: “Sodium channel alpha-1 subunit mutations in Severe Myoclonic Epilepsy of Infancy and Infantile Spasms”, Australian Association of Neurologists, Sydney, 14 May 2003. 300. Invited Lecture: “Genetics of absence epilepsy”, Child Neurology Study Group, Sydney, 10 May 2003. 301. Invited Lecture & Discussant (Paediatric Cases): “Treatment guidelines in the use of anticonvulsants in paediatric epilepsy”, Lecture and case study workshop, Paediatric Workshop on Epilepsy, Brisbane, 16 March 2002. 302. Plenary Lecture: “Febrile convulsions plus”, Royal Children’s Hospital paediatric update meeting, Brisbane, 15 March 2002. 303. Invited Lecture: “Epilepsy, implications of development in pharmacotherapy”, National Medical Professionals Seminar in Developmental Disability, Melbourne, 8 November 2001. 304. Invited Lecture: “Anti-epileptic therapies”, Paediatric workshop, Sydney, 7 April 2001. 305. Discussant: “Anti-epileptic therapies: Paediatric cases”, Paediatric workshop, Sydney, 7 April 2001. 306. Chair: “Paediatric epilepsy session”, Epilepsy Society of Australia, Melbourne, 16 November 2000. 307. Invited Lecture: “Temporal lobe epilepsy and febrile seizures associated with a sodium channel B1 subunit (SCN1B) mutation”, Epilepsy Society of Australia, Melbourne, 16 November 2000. 308. Invited Lecture: “Idiopathic seizure disorders in infancy”, Epilepsy Society of Australia, Melbourne, 16 November 2000. 309. Invited Lecture: “Speech and language disorders”, Paediatric workshop, Royal Australasian College of Physicians, Melbourne, 11 August 2000. 310. Invited Lecture: “Genetics of nocturnal frontal lobe epilepsy”, Australian Association of Neurologists, Melbourne, 17 May 2000. 311. Invited Lecture: “Severe myoclonic epilepsy of infancy – is it part of the GEFS+ spectrum?” Child Neurology Study Group, Portsea, 14 May 2000. 312. Invited Lecture: “Familial nocturnal frontal lobe epilepsy”, Australasian Sleep Association Annual Meeting, Melbourne, 8 April 2000. Ingrid Scheffer 57

313. Invited Lecture: “Finding families for genes”, Epilepsy Society of Australia, Adelaide, 17–20 November 1999. 314. Invited Lecture: “Managing the disabled child with epilepsy”, Heritage and New Science Symposium, Melbourne, 20 March 1999. 315. Invited Lecture: “The ILAE classification - the good and the bad”, Epilepsy Society of Australia Meeting, Melbourne, 12 November 1998. 316. Invited Lecture: “A gene for febrile seizures”, Neurogenetics Society of New South Wales, Sydney, 3 November 1998. 317. Invited Lecture and Discussant: “New epilepsy syndromes”, Workshop on Epilepsy cases, Epilepsy Update for Paediatricians, Adelaide, 5 September 1998. 318. Invited Lecture: “Molecular genetics of febrile seizures”, Australian Association of Neurologists, Brisbane, 22 May 1998. 319. Invited Lecture: “Generalised epilepsy with febrile seizures plus”, Child Neurology Study Group, Fraser Island, 17 May 1998. 320. Invited Lecture: “New epilepsy syndromes”, Joint scientific meeting of The Royal Australasian College of Physicians and The Australian College of Paediatrics, Melbourne, 14 May 1998. 321. Invited Lecture: “Febrile Seizures, When is it epilepsy?” Epilepsy Society of Australia Meeting, Brisbane, 6 November 1997. 322. Invited Lecture: “Epilepsy characterization in 1997, New antiepileptic drugs”, Seminar for Paediatricians, Hobart, 7 April 1997. 323. Invited Lecture: Genetics of epilepsy, Epilepsy Society of Australia Meeting, Melbourne, 8 November 1996. 324. Invited Lecture: “Autosomal dominant nocturnal frontal lobe epilepsy”, Epilepsy Society of Australia Meeting, Melbourne, 7 November 1996. 325. Invited Lecture: “Nocturnal frontal lobe epilepsy misdiagnosed as sleep disorder - a case study and genetic implications”, Royal Australian and New Zealand College of Psychiatrists – meeting of the Faculty of Child and Adolescent Psychiatry, Melbourne, 21 September 1996. 326. Invited Lecture: “Genetics of the epilepsies”, Australian College of Paediatrics meeting, Brisbane, May 1996. 327. Invited Lecture and Discussant: “Epilepsy Update for Paediatricians”, Australian College of Paediatrics teleconferences, 3 April 1996. 328. Invited Lecture: “X-Linked dominant double cortex syndrome”, Australian Child Neurology Study Group, Tasmania, 1994. 329. Platform Presentation: “X-Linked dominant double cortex syndrome”, Australian Association of Neurologists, Canberra, 1994. 330. Platform Presentation: “Night terrors or frontal lobe seizures? The clinically distinctive disorder of autosomal dominant nocturnal frontal lobe epilepsy”, Australian College of Paediatrics, Hobart, 1994. 331. Invited Lecture: “Ictal dystonia”, Epilepsy Society of Australia and Movement Disorders Society of Australia (combined meeting), Canberra, May 1994. 332. Platform Presentation: “Nocturnal motor disturbances in children due to familial frontal lobe epilepsy”, Australian Association of Neurologists, Cairns, 1993. 333. Invited Lecture: “Epilepsy in the intellectually disabled”, Combined Annual Meetings of the Stroke Society of Australasia and Epilepsy Society of Australia, Melbourne, 1993. Ingrid Scheffer 58

334. Platform Presentation: “Analysis of an exceptional multiplex family with generalized epilepsy”, Australian Association of Neurologists Meeting, Melbourne, June 1992. 335. Invited Lecture: “Lennox-Gastaut Syndrome”, Epilepsy Society of Australia Meeting, Austin Hospital, Melbourne, November 1991. 336. Invited Lecture: “Febrile Convulsions”, Epilepsy Society of Australia Meeting, Austin Hospital, Melbourne, November 1991. 337. Invited Lecture: “Genetics of Partial Epilepsy”, Epilepsy Society of Australia Meeting, Austin Hospital, Melbourne, November 1991.

Local Profile 338. Invited Lecture: “Medicine – the career of a lifetime”, University of Melbourne Medical Graduation dinner, Melbourne, 5 November 2014. 339. Invited Lecture: “Genetics of focal epilepsies”, Festschrift in honour of Professor Gavin Fabinyi, Melbourne, 15 September 2014. 340. Invited Public Lecture: “Understanding the sacred disease – Epilepsy”, New Fellows and Medallists Symposium, Australian Academy of Science, Melbourne, 12 June 2014. 341. Invited Lecture: “Phenotyping: Genetic discovery and Applications”, Melbourne Medical School Research Strategy Workshop, Melbourne, 2 May 2014. 342. Invited Public Lecture: “Women in science: On the cutting edge of epilepsy research”, Melbourne University Health Initiative, Melbourne, 26 March 2014. 343. Plenary Lecture: “Distinguish scientist awardee: Why pursue a research career”, Austin Health Research Week, Austin Health, Melbourne, 27 November 2013. 344. Invited Lecture: “A career in medicine and science” Monash Medical School Graduates, 30 years on. Melbourne, 5 October 2013. 345. Invited Lecture: “Epilepsy genetics – exciting discoveries transform clinical practice” The Australian and New Zealand Association for the Advancement of Science, Melbourne, 18 September 2013. 346. Invited Lecture: “Epilepsy – emerging trends in treatment and research” Parkville Community Leaders’ Breakfast, Florey Institute and University of Melbourne, 4 September 2013. 347. Invited Panelist: “Jabbed” - Public forum regarding the vaccination debate. ICT for life sciences seminar series. 5 June 2013. 348. Invited Lecture: “The epilepsy exome: Impact of gene discovery on patient care” Women in Science Lecture Series, Walter and Eliza Hall Institute, Melbourne, 10 April 2013. Invited discussant regarding issues facing women in science, Walter and Eliza Hall Institute, Melbourne, 10 April 2013. 349. Invited Lecture: “How can lessons learned from epilepsy inform the autism-vaccination debate?” Walter and Eliza Hall Institute Celebratory Symposium Public Lecture: Translation – delivering the benefits of medical research to the community, Melbourne, 22 November 2012. 350. Invited Lecture: “A woman’s work is never done: Balancing scientific excellence with life’s challenges”, Clinical and Public Health Seminar, Royal Children’s Hospital, Melbourne, 25 October 2012. 351. Guest Speaker: The University of Melbourne Conferring Degrees Ceremony, Melbourne, 15 August 2012. 352. Plenary Lecture: “Epilepsy genetics: impact on clinical practice in 2012", Hopkins Symposium Royal Children’s Hospital, Melbourne, 7 March 2012. Ingrid Scheffer 59

353. Plenary Lecture: “The Classification of the Epilepsies: Times are a-changing”, 8th Update for General Paediatricians at Monash Children’s, Monash Medical Centre, Melbourne, Australia, 3 June 2011. 354. Organiser: Festschrift in honour of Associate Professor Lionel Lubtiz, Melbourne, 9 February 2011. 355. Invited Lecture: “Times are achanging – classifying seizure disorders", Paediatric Grand Rounds, Monash Medical Centre, Melbourne, 28 October 2010. 356. Invited Lecture: “The classification of epilepsy syndromes: 20 years on", Hopkins Symposium Royal Children’s Hospital, Melbourne, 3 March 2010. 357. Invited Lecture: "Is autism a neurological disorder and what genetic tests should be ordered?” Hopkins Symposium Royal Children’s Hospital, Melbourne, 3 March 2010. 358. Invited Workshop: Paediatric Cases, Melbourne Paediatricians, Melbourne, 29 July 2009. 359. Invited Lecture: “Unravelling the complex story of epilepsy genetics”, Murdoch Children’s Research Institute Genetics Seminar, Melbourne, 10 July 2009. 360. Invited Workshop: Paediatric Cases, Ballarat Paediatricians, Ballarat, 28 May 2009. 361. Invited Lecture: “Recent discoveries in Dravet syndrome”, Epilepsy Foundation, Melbourne, 12 February 2009. 362. Invited Lecture: “Genetics of epilepsy”, Melbourne Epilepsy School for Neurologists from Asia, Melbourne, 16 June 2008. 363. Invited Lecture: “Challenges in diagnosis of childhood epilepsy”, The Pink Paediatricians’ Meeting, Melbourne, 5 June 2008. 364. Invited Lecture: “To talk or not to talk: the spectrum of epilepsy-aphasia syndromes”, Southern Health Paediatric Update, Monash Medical Centre, 14 September 2007. 365. Invited Lecture: “Paediatric clinical research: focusing on autism and intellectual disability”, Clinical Neuroscience Research Course, The University of Melbourne, 22 August 2007. 366. Invited Chair and Lecture: “Keppra – use in children”, Paediatric Workshop, Melbourne, 14 June 2007. 367. Invited Lecture: “Understanding childhood epilepsy: From bedside to bench and back again” Grand Round, Austin Hospital, Melbourne, 13 September 2006. 368. Invited Lecture: “Understanding childhood epilepsy: From bedside to bench and back again” Grand Round, Royal Children’s Hospital, Melbourne, 21 June 2006. 369. Invited Lecture: “Understanding childhood epilepsy: From bedside to bench and back again” Dean’s Lecture Series, The University of Melbourne, Melbourne, 30 May 2006. 370. Invited Lecture: “Paediatric use of levetiracetam”, UCB Paediatric workshop, Melbourne, 8 April 2006. 371. Invited Discussant: Paediatric epilepsy cases, UCB Paediatric workshop, Melbourne, 8 April 2006. 372. Invited Lecture: “Familial seizures in the neonatal and infantile period”, Inaugural Austin Mercy Paediatric Seminar, Austin Health, Melbourne, 1 December 2005. 373. Invited Lecture: “Translating Dravet into SCN1A: the cycle of bedside to bench research”, Neurosciences Seminar, Austin Health, Melbourne, 24 November 2005. 374. Invited Lecture: “Febrile seizures and beyond”, Medical Grand Round, Austin Health, Melbourne, 10 August 2005. 375. Invited Lecture: “What is the spectrum of epilepsy-aphasia disorders?” Festschrift in honour of Bronwyn Parry-Fielder, Chief Speech Pathologist, Royal Children’s Hospital, Melbourne, 1 August 2005. Ingrid Scheffer 60

376. Invited Lecture: “Genes and epilepsy”, Genetic Health Seminar, Genetic Health Services Victoria, Melbourne, 24 June 2005. 377. Chair: “Case presentation and panel discussion in autism assessment”, Barwon Paediatric Seminar, Geelong, 18 March 2005. 378. Invited Lecture: “Occipital Epilepsies in childhood and adolescence”, Hopkins Symposium, Royal Children’s Hospital, Melbourne, 2 March 2005. 379. Discussant and Invited Lecture: “Highlights from the American Epilepsy Society”, Victorian Paediatric Neurologists Meeting, Melbourne, 23 February 2005. 380. Invited Lecture: “Adolescents and epilepsy – Answers to your questions”, Monash Epilepsy Support Group, Melbourne, 17 February 2005. 381. Invited Lecture: “Epilepsy and mental retardation confined to females”, Neurobiology of epilepsy: patient driven science, Epilepsy Research Retreat, Ballarat, 7 August 2004. 382. Invited Lecture: “An introduction to Keppra: a promising new treatment for epilepsy”, Paediatric workshop, Melbourne, 15 July 2004. 383. Discussant: Panel of epileptologists “ Case discussions”, Symposium for Neurologists, Melbourne, 27 November 2003. 384. Invited Lecture: “Phenotypes associated with SCN1B mutations”, Conceptualisation of epilepsies in the area of genetics and imaging, Epilepsy Research Retreat, Yarra Valley, 9 August 2003. 385. Invited Lecture: “The clinician’s perspective in the new era of the human genome in understanding epilepsy genetics”, Paediatric Workshop, Melbourne, 5 April 2003. 386. Invited Lecture: “Autosomal dominant nocturnal frontal lobe epilepsy: clinical features and molecular genetics”, Epilepsy Genetics Workshop, Melbourne, 2 December 2002. 387. Invited Lecture and Discussant (Paediatric cases): “Everything you wanted to know but were too afraid to ask”, Paediatric Workshop on Epilepsy, Melbourne, 9 October 2002. 388. Invited Lecture: “SCN1A mutations in SMEI and infantile spasms”, Epilepsy Research Retreat, Melbourne, 17 August 2002. 389. Invited Lecture: “Autosomal dominant seizure syndromes of infancy”, Epilepsy Research Retreat, Melbourne, 16 August 2002. 390. Invited Lecture: “Treatment guidelines in the use of anticonvulsants in paediatric epilepsy”, Lecture and case study workshop, Paediatric Workshop on Epilepsy, Melbourne, 1 June 2002. 391. Invited Lecture: “Current place of anti-epileptic therapies”, Case conference, Paediatric workshop, Daylesford, 17 November 2001. 392. Invited Lecture: “X-linked myoclonic epilepsy and infantile spasms – are they related?” Neurosciences seminar, Austin and Repatriation Medical Centre, 1 November 2001. 393. Invited Lecture: “Clinical spectrum of GABA channelopathies”, Epilepsy Research Retreat, Geelong, 8– 9 September 2001. 394. Chair: “Functional Imaging session”, Epilepsy Research Retreat, Geelong, 8–9 September 2001. 395. Invited Lecture: “Case review and update on topiramate”, Paediatric Seminar, Melbourne, 30 August 2001. 396. Discussant: “Case review and update on topiramate: Paediatric cases”, Paediatric Seminar, Melbourne, 30 August 2001. 397. Invited Lecture: “Genetics of idiopathic generalized epilepsies: a digenic model”, Neurology Grand Round, Monash Medical Centre, Melbourne, 19 July 2001. Ingrid Scheffer 61

398. Invited Lecture: “Anti-epileptic therapies”, Paediatric Workshop, Melbourne, 31 March 2001. 399. Invited Lecture: “New anti-epileptic drug toxicity”, Hopkins Symposium, Royal Children's Hospital, Melbourne, 7 March 2001. 400. Invited Lecture: “Ion channels in epilepsy and other neurological disorders”, Biochemistry minisymposium: Ins and outs of ion channels, The University of Melbourne, 25 October 2000. 401. Invited Lecture: “Autosomal dominant nocturnal frontal lobe epilepsy: of mice and men”, Neurosciences meeting, Monash Medical Centre, Melbourne, 21 September 2000. 402. Invited Lecture: “Autosomal dominant nocturnal frontal lobe epilepsy: of mice and men”, Neurology meeting, Alfred Hospital, Melbourne, 13 September 2000. 403. Invited Lecture: “Genetics of the epilepsies”, Epilepsy Research Retreat, Geelong, 18–20 August 2000. 404. Invited Lecture: “GEFS+: the extended spectrum”, Epilepsy Research Retreat, Geelong, 18–20 August 2000. 405. Invited Lecture: “X-linked myoclonic epilepsy with intellectual disability”, Epilepsy Research Retreat, Geelong, 18–20 August 2000. 406. Invited Lecture: “Anti-epileptic therapies”, Workshop on epilepsy cases, Paediatric workshop, Sydney, 5 August 2000. 407. Discussant: “Anti-epileptic therapies: paediatric cases”, Paediatric workshop, Sydney, 5 August 2000. 408. Invited Lecture: “Epilepsy and language disorders”, Paediatric Grand Round, Monash Medical Centre, Melbourne, 3 August 2000. 409. Invited Lecture: “Genetics of severe myoclonic epilepsy of infancy”, Neurosciences Symposium, Royal Children’s Hospital, Melbourne, 5 March 2000. 410. Invited Lecture: “Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+”, Epilepsy Research Retreat, Castlemaine, 13–15 August 1999. 411. Discussant: “Paediatric audit”, Barwon Paediatric Meeting, Geelong, 27 April 1999. 412. Invited Lecture: “Febrile convulsions – a neurological perspective”, Grand Rounds, Royal Children's Hospital, 10 March 1999. 413. Invited Lecture: “A gene for febrile seizures”, Neurophysiological Sciences Society of Australia, Camberwell, 10 December 1998. 414. Invited Lecture: “A gene for febrile seizures”, Austin Neurosciences Seminar, November 26 1998. 415. Invited Lecture: “New anti-epileptic drugs”, Parke-Davis Seminar for Paediatricians, Melbourne, 26 November 1998. 416. Invited Lecture: “A gene for febrile seizures”, Murdoch Institute, Parkville, 2 October 1998. 417. Invited Lecture: “A gene for febrile seizures”, Neurosciences Meeting, Clayton, 24 September 1998. 418. Invited Lecture: “Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2”, Epilepsy Research Retreat, Marysville, 14–16 August 1998. 419. Invited Lecture: “Genetics and childhood epilepsy”, Epilepsy Update for Paediatricians, Melbourne, 14 June 1997. 420. Invited Lecture and Discussant: “The adolescent and epilepsy - including issues pertaining to women”, Update for paediatricians, Melbourne, 14 June 1997. 421. Invited Lecture: “Paediatric epilepsy syndromes. New antiepileptic drugs”, Seminar for Paediatricians, Launceston, 4 April 1997. Ingrid Scheffer 62

422. Invited Lecture: “Epilepsy syndromes”, Happy Valley Regional Meeting for Paediatricians, Melbourne, 10 October 1996. 423. Invited Lecture: “Benign familial infantile convulsions: A large Australian family”, Epilepsy Research Retreat, Marysville, 9–11 August 1996. 424. Invited Lecture: “Childhood epilepsy”, Thomastown Symposia for GPs, Melbourne, 19 July 1996. 425. Invited Lecture and Discussant: “An update in the treatment of paediatric epilepsy for paediatricians”, Paediatric workshop, Melbourne, 9 May 1996. 426. Invited Lecture: “Epilepsy Update for Paediatric Neurologists,” Epilepsy Symposium, Sydney, 9 March 1996. 427. Invited Lecture: “Paediatric epilepsy”, Dandenong GP Neurology Seminar, West Rosebud, 2 March 1996. 428. Invited Lecture: “Paediatric epilepsy”, Koelmeyer Group of Solo GPs, Melbourne, 5 October 1995. 429. Invited Lecture: “Genetics of the epilepsies: Is there a role for neuropsychology?” Advances in Child Neuropsychology, Theory and Practice, Royal Children's Hospital, Melbourne, 12 July 1995. 430. Invited Lecture: “A comprehensive epilepsy programme at MMC”, Grand Rounds, Monash Medical Centre, Melbourne, 27 June 1995. 431. Invited Lecture: “Epilepsy in Children”, Update in Neurology, A refresher program for rural health practitioners, Moe, 26 May 1995. 432. Invited Lecture: “Dyspraxia, epilepsy and genetics”, Speech Pathology Workshop, Royal Children's Hospital, Melbourne, 24 April 1995. 433. Invited Lecture: “Epilepsy in children, New drugs in management”, RAAF Hospital Clinical Meeting, Laverton, 20 April 1995. 434. Invited Lecture: “Epilepsy update”, Adolescent Medicine Seminars, Royal Children's Hospital, Melbourne, 15 December 1994. 435. Invited Lecture: “Autosomal dominant epilepsy with speech dyspraxia: A new syndrome”, Paediatric Neuroscience Seminar Series, Royal Children's Hospital, Melbourne, 1 December 1994. 436. Invited Lecture: “The genetics of the epilepsies”, Research in Progress, Royal Children's Hospital, Melbourne, 21 November 1994. 437. Invited Lecture: “The genetics of the epilepsies”, Research in Progress, Austin Hospital, Melbourne, 16 November 1994. 438. Invited Lecture: “Frontal lobe epilepsy”, Grand Rounds, Royal Children's Hospital, Melbourne, 4 May 1994. 439. Invited Lecture: “New anti-epileptic drugs”, Neurosciences Update, Royal Children's Hospital, Melbourne, 16 March 1994.

Local Awards • Paul Harris Fellow Recognition, The Rotary Club of Malvern, 2012. • Investigator’s award in clinical research, Austin and Repatriation Medical Centre, 2003. • Investigator’s award in clinical research, Austin and Repatriation Medical Centre, 2002.

Non-Research Activity Ingrid Scheffer 63

I am the Director of Paediatrics at Austin Health, which has four visiting paediatricians and a 14 bed paediatric ward. The Paediatric Unit has expertise in Eating Disorders and Chronic Fatigue Syndrome. I head the Children’s Epilepsy Program at Austin Health where there is a dedicated video-EEG monitoring suite where I look after children from around Australia for complex epilepsy characterisation and presurgical evaluation. My clinical practice involves paediatric and adult epileptology, and general paediatric neurology at Monash Medical Centre, the Royal Children’s Hospital and the Austin Health. At the Royal Children’s Hospital, I run a regular Epilepsy Genetics Clinic. At Austin Health, I have clinical-research clinics for Dravet syndrome and the ketogenic diet program that I have established for children and adults. I was the director of epilepsy services at Monash Medical Centre from 1995-2005, and this role provided an important source of suitable patients and families for clinical research. I teach epileptology to medical students, postgraduate students, neurophysiology technologists, paediatricians and neurologists.

Postgraduate and Undergraduate Teaching and Clinical Involvement

Postgraduate and Undergraduate Teaching At a postgraduate level, I co-supervise Epilepsy Fellows undertaking higher degrees (MD, PhD), and also a Masters of Speech Pathology student studying the genetics of speech and language disorders. I have also supervised or co-supervised neurology registrars in research projects at both the Austin Hospital and Monash Medical Centre culminating in publications. A number of my students have won Topscholar Junior Investigator awards from the Epilepsy Society of Australia, and Dr. Isabella Taylor won a Junior Investigator prize at the Australian Association of Neurologists in 2004. • Regular lectures to Paediatric Neurologists, Paediatricians, GP and medical student groups • Regular tutoring of FRACP candidates • Regular teacher of PBL to medical students in their paediatric term at Austin Health • Coordination of Symposium to encourage post-graduate research degrees, Austin Health • Regular lecturer with the Epilepsy Foundation and parent education seminars • Lecturer in Clinical Neuroscience Research course, 2006 onwards • Examiner of theses of Honours, AMS, Master of Medicine and PhD students • Practical teaching in EEG to medical staff, at AAN EEG course, and EEG technologists

Postgraduate Students Supervised Yap V “Examining the broader autism phenotype in multiplex autism families” PhD (2012-) Richards A “The comorbidity between epilepsy and autism: Expression of the broader autism phenotype in epilepsy” PhD (2012-) Pereira K “The experience of receiving microarray results for autism spectrum disorders” Masters of Genetic Counselling (2012-2013) Frees C “Cognitive function in GLUT1 epilepsies” DPsych (2011-2013) McLeod L “Psychogenic non-epileptic seizures” PhD (2011-) Ingrid Scheffer 64

Turner SJ “Clinical genetics studies of speech and language disorders in large families” PhD (2011-) Tsai MH “Genetics of Temporal Lobe Epilepsy” PhD (2009-2013) Klein KM “Identification of genes in families with syncope and epilepsies” PhD (2008-2011) Nasioulas S “Elucidation of novel genetic causes of epilepsy using DNA copy number variation and other chromosome abnormalities” PhD (2007-2012) Brown N "A family and community study of autism spectrum disorders" PhD (2006-) Mullen S "Genetics of epilepsy" PhD (2006-2011) Vears D “Impact of gene identification for people with epilepsy” Masters of Genetic Counselling (2008-9) Taylor I "Genetics of focal epilepsies" PhD (2003–2006) Passed without revision, 2006 Now neurologist and epileptologist, Royal Perth Hospital and Charles Gairdner Hospital, Perth, WA Sadleir L “The electro-clinical features of typical absence seizures in untreated children” MD (2005) Passed without revision Now Senior Lecturer, University of Otago, and Paediatric Neurologist & Epileptologist, Capital Coast Health, Wellington, NZ Crossland K “The genetic basis of speech and language disorders” MSpPath (2002) Passed without revision Now working in Germany Singh R "Genetics of epilepsy: a study of 14 families" MD (1998) Passed Headed Epilepsy Unit, India. Now deceased

Supervisory Role with Postgraduate Students Carney P “fMRI of IGE” PhD (2013) Passed Now Epilepsy Consultant, Melbourne, Vic Derry C "Aspects of sleep and epilepsy" PhD (2006) Passed Now Epilepsy Consultant, Edinburgh, Scotland Fedi M "PET studies in familial epilepsies" PhD (2007) Passed Now Epilepsy Consultant, Melbourne, Vic

Vadlamudi L "Epilepsies in Twins" PhD (2005) Passed Now Associate Professor, Brisbane, Queensland Ingrid Scheffer 65

Marini C "Family studies of epilepsy with simple and complex inheritance" PhD (2002) Passed. Now Epilepsy Consultant and Scientific Officer at the Meyer Hospital, Florence, Italy.

Research Fellows Supervised Prof Eliane Roulet Perez (Switzerland) Dr Rhys Thomas (UK) Dr Linmei Zhang (China) Dr Shani Samarasekera (UK) Dr Meng-Han Tsai (Taiwan) Dr Laura Licchetta (Italy) Dr Lysa Boisse Lomax (Canada) Dr Mel Michel Villaluz (Philippines) Dr Young-Ok Kim (Republic of Korea) Dr Utcharee Intusoma (Thailand) Dr Karl Martin Klein (Germany) Dr Kheng-Seang Lim (Malaysia) Dr Daniel Carranza Rojo (Spain) Dr Douglas Crompton (UK) Dr Radwa Badawy (Egypt) Dr Pasiri Sithnamsuwan (Thailand) Dr Angelique Sijben (The Netherlands) Dr Ashalata Radhakrishnan (India) Dr Ingo Helbig (Germany) Dr Eric Herlenius (Sweden) Dr Param Kharbanda (India) Dr Yu-Hong Deng (China) Dr Siew-Peng Lee (Malaysia) Dr Nigel Tan (Singapore) Dr Gunay Gul (Turkey) Dr Yue-Hua Zhang (China) Dr Floor Jansen (Netherlands) Dr Paolo Federico (Canada) Dr Gisela Kuester (Chile) Dr Somjit Sriudomkajorn (Thailand) Dr Suthida Yenjun (Thailand) Dr Aparsi Lusawat (Thailand) Dr Yotin Chinvarun (Thailand) Ingrid Scheffer 66

Dr John Archer (Australia) Dr Angelo Labate (Italy) Dr Caifeng Yang (China) Dr Abraham Kuruvilla (India)

Past Research Officers Dr Judith Adams (Australia) Dr Jim Pelekanos (Australia)

Past Post-Doctoral Students Dr Michael Johnson (UK)

Clinical Medical Students Jazmin Eckhaus (AMS Student, The University of Melbourne) Carnjini Thambaiya (AMS Student, The University of Melbourne)

Theses Examined University of New South Wales University College, London, UK

Administrative Duties

2013-ongoing Scientific Advisory Committee, The Clive and Vera Ramaciotti Foundation 2012- ongoing Member of Jury, L’Oréal UNESCO for Women in Science National Fellowships 2013 Defining guidelines for MRI requests for first seizure presentation for general practitioners, Medicare, Australia 2013 Selection Panel for Woodward Medal in Science & Technology, University of Melbourne 2012- Scientific Advisory Board, PCDH19 Alliance 2012- Scientific Advisory Board, Doose Syndrome Epilepsy Alliance (DSEA) 2011 Chair, Grant Assist Panel, Florey Neuroscience Institutes 2011 Member of Victorian Paediatric Basic Training Committee, Victorian Department of Health. 2009-10 Member of Metropolitan Workgroup, Paediatric Clinical Network, Department of Human Services 2008 -11 Member of Ethics Seminar Planning Committee, Faculty of Medicine, Dental and Health Sciences, The University of Melbourne 2007 Group Captain, Epilepsy, Stroke and Clinical Neurosciences Group, Research Quality Framework, The University of Melbourne 2006-07 Chair, Paediatric Review, Austin Health 2006 - Scientific Advisory Board, Dravet.org (previously called Idea League) 2006 - Scientific Advisory Council, Neurosciences Victoria Ltd 2005 - Member of Departmental Executive, Department of Medicine, Austin Health 2005 - Director of Paediatrics, Austin Health Ingrid Scheffer 67

Peer Review Involvement

Membership of Editorial Boards Annals of Neurology (2007–) Neurology (2014-) Epilepsia (2008–2010) Faculty of 1000 Medicine (2008–2010) Epileptic Disorders (2006–) Progress in Epileptic Disorders series (2005–) Virtual Neuro Centre (www.virtualmedicalcentre.com) (2005–) Epilepsia (2001–2003)

Manuscripts Reviewed For Nature Genetics The Lancet The New England Journal of Medicine Lancet Neurology Annals of Neurology American Journal of Human Genetics Brain Neurology Neuropsychiatric Genetics Epilepsia Neuropediatrics Brain and Development Human Molecular Genetics Human Mutation Journal of Epilepsy Journal of Neurology Journal of Clinical Neuroscience Epileptic Disorders Epilepsy Research Journal of Pediatrics and Child Health Experimental Brain Research American Journal of Medical Genetics Journal of Medical Genetics Proceedings of the National Academy of Science of the USA (PNAS) Ingrid Scheffer 68

Grants Reviewed For NHMRC Epilepsy Research Foundation, UK The Telethon Charity, Italy Research Foundations of the Women’s and Children’s Hospital, Adelaide The New Children’s Hospital, Sydney

Abstracts Reviewed For International Epilepsy Congress World Congress of Neurology Epilepsy Society of Australia Asian and Oceanian Epilepsy Congress International Child Neurology Congress

Membership of Professional Societies Epilepsy Society of Australia: − Elected to council 2003–06 − Drug evaluation committee member Australian Pregnancy Register Scientific Advisory Board International Child Neurology Association American Epilepsy Society Royal Australasian College of Physicians Australian Association of Neurologists Child Neurology Study Group Australian Medical Association Monash University Medical Graduates Association Paediatric Research Society of Australia NHMRC Association of Research Fellows Asian & Oceanian Child Neurology Association Australian Society for Medical Research

Consulting Relationships Janssen-Cilag Member of Asian-Oceanic Scientific Board 2008 UCB Pharma Chair of Australian Paediatric Advisory Board (2006) Grant for clinicomolecular research project (see under grants) Member of SV2 Advisory Board (2007) Athena diagnostics, USA Consultant for SCN1A diagnostic materials and molecular diagnostic testing Ingrid Scheffer 69

Bionomics Ltd Consultancy July 2004-2005. Novartis Member of Trileptal board 2002-3

Organisational Role in Scientific Meetings & Executive Committees

Scientific Meetings – Topic Chairs “Epilepsy”, Scientific Organising Committee, International Child Neurology Congress, Brisbane, Australia, May-June, 2012 “Genes and Syndromes”, Scientific Organising Committee of the 26th International Epilepsy Congress, Paris, France, September 2005 “Paediatric epileptology” and “Classification” themes for Scientific Organising Committee of the 7th Asian Oceanian Epilepsy Congress, Xiamen, China 2008. I have been a member of the scientific organisation committee of the Epilepsy Society of Australia for the four meetings held in Melbourne. I have also advised on the program for epilepsy symposia at the Australian Association of Neurologists and the Epilepsy Society of Australia when it has not been in Melbourne. I have been involved in organising the program for all 18 of our annual Epilepsy Research Retreats, since the inaugural retreat in 1995.

Executive Positions 2014 Vice-President, Foundation Fellow, Australian Academy of Health and Medical Sciences 2014-2016 Member, Sectional Committee 12: Medicine and Public Health, Australian Academy of Science 2014 Chair, ILAE Classification Taskforce 2014 Member, ILAE Syndromes & Diagnostic Manual Taskforce 2014- Member, Australian Epilepsy Clinical Trials Network Executive Committee 2013- Member, Development Committee for new Australian Academy of Health and Medical Sciences 2013-2017 Secretary, ILAE Commission for Classification and Terminology 2013- Club Melbourne Ambassador 2012- Member, Epilepsy Society of Australia Executive Committee 2012 Member, ILAE Taskforce on Definitions of Epilepsy 2011-12 Member, ILAE Taskforce on Reports and Position Statements 2010–14 Member, Advisory Board for the Infantile Seizures Society (ISS) 2010-13 Member, Education Subcommittee, Epilepsy Society of Australia 2010-12 Member, Research Committee, International Child Neurology Association 2009–13 Chair, Commission for Classification and Terminology, International League Against Epilepsy 2009-13 Member, Genetics Commission, International League Against Epilepsy 2009 Member, Neurosciences Australia Healthy Brains for our Children Working Party Ingrid Scheffer 70

2008–10 Member, Research Recognition Awards Committee, American Epilepsy Society 2007– Member, Working party for WHO and Paediatric Commission, International League Against Epilepsy, developing guidelines for management of infantile seizures 2006–09 Member, Commission for Classification and Terminology, International League Against Epilepsy 2006–09 Member, Genetics Commission, International League Against Epilepsy 2005–08 Member, Women in Neurology Committee, Australian Association of Neurologists 2003–07 Member, ESA Management Committee, Epilepsy Society of Australia 2001–12 Member, Drugs and Devices Committee, Epilepsy Society of Australia 2001–12 Member, Australian Pregnancy Register for Women on Anti-Epileptic Medication Advisory Board

Organising Committees 2012-14 Member, Program Committee, 16th Meeting of the Infantile Seizure Society, Istanbul, 26-29 June 2014. 2011-12 Member, Scientific Consultative Committee, 9th Asian & Oceanian Epilepsy Congress, Manila, Philippines, 22-25 March 2012. 2010-11 Member, Scientific Consultative Committee, Epilepsy Society of Australia Annual Meeting, Brisbane, Australia, 2-4 November 2011. 2010-11 Member, Scientic Organising Committee, Genetically determined early-onset epileptic encephalopathies (EOEE): from phenotype to diagnostic algorithms, Florence, Italy, 27-28 August 2011. 2009–12 Topic Chair: “Epilepsy”, Scientific Organising Committee, International Child Neurology Association Meeting, Brisbane 2010 Member, Scientific Consultation Committee, Asian and Oceanian Epilepsy Congress, Melbourne, 21-23 October 2010. 2008–09 Member, Scientific Organising Committee, Neurogenetics on the Apple Isle, The Australian Society for Medical Research Annual Meeting, Tasmania, November 2009 2007–08 Topic Chair: “Paediatric epileptology”, Scientific Organising Committee, Asian and Oceanian Epilepsy Congress, Xiamen, China, May 2007 2007–08 Topic Chair: “Classification”, Scientific Organising Committee, Asian and Oceanian Epilepsy Congress, Xiamen, China, May 2007 2003–05 Topic Chair: “Genes and syndromes”, Scientific Organising Committee, International Epilepsy Congress, Paris, Aug–Sep 2005 1995–07 Co-organiser, Epilepsy Research Retreat Organising Committee 2000 Member, Organising Committee, Epilepsy Society of Australia Annual Scientific Meeting, Melbourne 1998 Member, Organising Committee, Epilepsy Society of Australia Annual Scientific Meeting, Melbourne 1996 Member, Organising Committee, Epilepsy Society of Australia Annual Scientific Meeting, Melbourne

Media Contact & Research Awareness Campaigns Ingrid Scheffer 71

I have been involved in media conferences announcing novel research discoveries such as finding epilepsy genes on several occasions. This has also involved newspaper and journal publications about our work and my career success. I have supported patients in documentaries regarding novel anti-epileptic therapies including vagal nerve stimulation where I have been interviewed to present the medical aspects. I have taken calls from the media to advise them about epilepsy campaigns, new treatments, etc. Television 1. 30 December 2013, “Gene secrets to help explain epilepsy”, The 7.30 Report, ABC, interviewed by Lisa Whitehead. Story on Ingrid Scheffer and her GSK Award for Research Excellence and her clinical research, exploring issues for patients and families around gene discovery. 2. November 2013, “Opportunities Australia”, ABC Australia Network, series focusing on Australian entities that export overseas. Role in a segment about the University of Melbourne, showcasing its engagement and research and development projects in the Asia region. The series will screen on the ABC's Australia Network, which broadcasts into the Asia–Pacific region. 3. 12 August 2013, “A family’s journey with KCNQ2 encephalopathy”, Australian Story, directed by Belinda Hawkins. Role in explaining the disorder I discovered in an affected child. http://www.youtube.com/watch?v=5Krl6H8fw4M 4. 15 January 2012, Channel 7 News. PRRT2 gene discovery. Report on the discovery of the gene PRRT2 for infantile epilepsy. 5. 15 January 2012, Nine News. PRRT2 gene discovery. Report on the discovery of the gene PRRT2 for infantile epilepsy. 6. 15 January 2012, Channel 10 News. PRRT2 gene discovery. Report on the discovery of the gene PRRT2 for infantile epilepsy. 7. 9 November 2011, Today Show Channel 9, “Aussie Honoured”, Interview. 8. 9 November 2011, ABC Breakfast TV (Virginia Trioli), Interview about L’Oréal-UNESCO Award for Women In Science Asia Pacific Laureate. 9. 22 October 2007, Network 10 Science television program targeting 8-12 year old children, “SCOPE”: “The Brain”. Principal speaker and contributed to script for segment devoted to epilepsy. 10. 3 August 2006, Participation in German documentary regarding Dravet syndrome and SCN1A gene testing to be shown in Germany, Austria and Switzerland

Film 11. June 2014 “Vaccines – Calling the Shots” Tangled Bank Studios and Howard Hughes Medical Institute. Modified version of the documentary film “Jabbed” made for the US. 12. June 2014 “Believe – Thank you” Campaign for the University of Melbourne. A video created to thank current donors and inspire key stakeholders, illustrating the impact philanthropy has made across the University. http://www.campaign.unimelb.edu.au/ 13. September 2013, L’Oréal-UNESCO Women in Science “Science needs women”. Video encouraging women to pursue a career in science. https://www.youtube.com/watch?v=fL6aCNXvYCo&list=PLUaofLG3eRjPZs3If0QDkzbFwJwWx2Eas 14. 26 May 2013, “Jabbed – Love, Fear & Vaccines”, SBS Television, full length documentary film on vaccination by director Sonya Pemberton. Role in one of the six stories regarding our research discovery of the gene underpinning vaccine encephalopathy. Movie sold to the US and Europe. Won ATOM award. Ingrid Scheffer 72

15. May 2013, “I Believe” Campaign for the University of Melbourne. Video highlighting significant research areas for the largest fundraising program in the University’s 160 year history. http://www.campaign.unimelb.edu.au/ 16. August 2012, Video profiling the media response to the L’Oréal-UNESCO Women in Science award 17. March 2012, Video profiling Ingrid Scheffer for the L’Oréal-UNESCO Women in Science Laureate award, http://www.youtube.com/watch?v=bGPhtVpWOWg

Radio 18. 4 April 2014, 3AW radio, Interview “NORSE syndrome”. 19. 27 May 2013, ABC Radio National (The World Today), “Genetic mutations linked to severe epilepsy in children”, Interview. http://www.abc.net.au/worldtoday/content/2013/s3767929.htm 20. 16 April 2013, 4CA radio, Interview “Discovery of a new focal epilepsy gene will change clinical practice” 21. 1 April 2013, ABC Radio National, “Epilepsy gene identified by researchers”, Interview. http://www.abc.net.au/am/content/2013/s3727076.htm 22. ABC radio news “Australian researchers find epilepsy gene”. News story played on multiple ABC news broadcasts. 1 April 2013 23. 3 June 2012, Panelist on “Einstein a go-go”, 3RRR radio interview for Medical Research Week http://rrrfm.libsyn.com/rss/Einstein%20A%20Go%20Go (podcast) 24. 31 March 2012, ABC News (Kylie Simmons), “UNESCO gong for Australian epilepsy researcher”, Interview. http://www.abc.net.au/am/content/2012/s3468043.htm (transcript). 25. 20 March 2012, ABC Radio National (Natasha Mitchell), Life Matters, Interview. 26. 11 November 2011, ABC Radio 774 (Sally Warhaft), Interview 27. 9 November 2011, 3AW radio Interview. 28. 9 November 2011, 702 Sydney radio (Adam Spencer), Interview. 29. 9 November 2011, ABC Radio Pacific, Interview. 30. 8 September 2006, ABC Hobart radio interview, “Ketogenic diet for epilepsy”. 31. 6 September 2006, ABC radio news, “Ketogenic Diet Program: A new initiative at Austin Health”. 32. 23 August 2005, 3AW (Ernie Sigley show) Radio interview discussing new MRI techniques and life-changing outcomes of epilepsy surgery.

Print and Online 33. 27 July 2014, The Sunday Age, Melbourne, “6 scientists you should know”. http://www.theage.com.au/technology/sci-tech/dr-who-campaign-to-boost-digital-profile-of- australias-female-scientists-20140726-zwvw5.html 34. 12 June 2014, Neurology Update, “Queen’s Birthday honour for neurologist”. http://www.neurologyupdate.com.au/latest-news/queen-s-birthday-honour-for-neurologist 35. 10 June 2014, Heidelberg Leader, “Ingrid inspires” (page 1) and “Work rewarded” (page 8). 36. 10 June 2014, Leader Community Newspapers North “Ivanhoe East’s John Isaac, Heidelberg Professor Ingrid Scheffer, Rosanna’s David Woods receive Queen’s Birthday honours”. Ingrid Scheffer 73

http://www.heraldsun.com.au/leader/north/ivanhoe-easts-john-isaac-heidelberg-professor-ingrid- scheffer-rosannas-david-woods-receive-queens-birthday-honours/story-fnglenug- 1226948469614?nk=e9ada3e7598e38f514e5f4bebd761331 37. 10 June 2014, Diamond Valley Leader, “St Andrews, Reservoir, Mt Macedon, Romsey, Brunswick, Bundoora, Greensborough, Gisborne, Coburg, Kinglake Queens Birthday honours”. http://www.heraldsun.com.au/leader/north/st-andrews-reservoir-mt-macedon-romsey-brunswick- bundoora-greensborough-gisborne-coburg-kinglake-queens-birthday-honours/story-fnglenug- 1226946060157 38. 9 June 2014, The Age, Queens Birthday Honours list. http://www.theage.com.au/national/queens- birthday-honours-full-list-20140608-39rfw.html 39. 28 March 2014, Australian Life Scientist, “Academy Fellowships”. http://lifescientist.com.au/content/life-sciences/news/academy-fellowships-601610364 40. 9 December 2013, The Age Melbourne, “Award shines light on seismic change to epilepsy diagnosis”. 41. 28 May 2013, ScienceDaily, “Finding a genetic cause for severe childhood epilepsies”. http://www.sciencedaily.com/releases/2013/05/130528100145.htm 42. 27 May 2013, ABC News, “Researchers discover genes linked to severe childhood epilepsy”. http://www.abc.net.au/news/2013-05-27/severe-childhood-epilepsy-genes-discovered/4714410 43. 20 May 2013, The Age, “Just one little jab”. http://www.theage.com.au/national/health/just-one- little-jab-20130519-2juz6.html 44. 2 April 2013, The Australian, “Breakthrough on epilepsy research”. http://www.theaustralian.com.au/higher-education/breakthrough-on-epilepsy-research/story- e6frgcjx-1226610396045 45. 2 April 2013, The Age, “Epilepsy discovery offers hope”. http://www.theage.com.au/national/epilepsy-discovery-offers-hope-20130401-2h2wk.html 46. 4 December 2012, The Age Melbourne Magazine, “Top 100 in 2012: Lifetime Achievers”. 47. 22 October 2012, GenomeWeb, “Australian-led team reports on new nocturnal epilepsy gene”. http://www.genomeweb.com/print/1142896 48. 22 August 2012, Australia Unlimited, “Unravelling a genetic mystery”. http://www.australiaunlimited.com/printpdf/695 49. 13 August 2012, Voice, The University of Melbourne Magazine 2012;8(8);2. “Women’s passionate minds inspire Melbourne”. 50. Stories of Australian Science 2012, Science in Public, “One unlucky letter causes an infant epilepsy”. 51. 28 July 2012, The Science Guide 2012, Profile, New Scientist. 52. 4 May 2012, The Age, “The sound of breaking glass”. http://www.theage.com.au/national/the- sound-of-breaking-glass-20120503-1y1r2.html 53. 31 March 2012, ABC News, “Australian honoured for epilepsy research”. http://www.abc.net.au/news/2012-03-31/australian-honoured-for-epilepsy-research/3924610 54. 30 Mar 2012, The Age, “Epilepsy research brings award to Australian expert. http://www.theage.com.au/victoria/epilepsy-research-brings-award-to-australian-expert-20120329- 1w17i.html 55. 25 March 2012, Sydney Morning Herald, “Ladies of the lab”. http://www.smh.com.au/national/ladies-of-the-lab-20120324-1vqt1.html 56. 18 January 2012, Bioscience Technology Online, “New Gene Discovery Unlocks Mystery to Epilepsy in Infants”. Ingrid Scheffer 74

http://www.biosciencetechnology.com/News/2012/01/New-Gene-Discovery-Unlocks-Mystery-to- Epilepsy-in-Infants/ 57. 18 January 2012, Medcompare, “New Gene Discovery Unlocks Mystery To Epilepsy In Infants”. http://www.medcompare.com/news.asp?newsid=410723 58. 18 January 2012, Science Codex, “New gene discovery unlocks mystery to epilepsy in infants”. http://www.sciencecodex.com/read/new_gene_discovery_unlocks_mystery_to_epilepsy_in_infants- 84405 59. 17 January 2012, Biotechs, “New gene discovery unlocks mystery to epilepsy in infants”. http://article.wn.com/view/2012/01/16/New_gene_discovery_unlocks_mystery_to_epilepsy_in_infa nts/ 60. 17 January 2012, Asian Scientist, “Genetic Cause of Heritable Infant Epilepsy Due To Mutations In The PRRT2 Gene”. http://www.asianscientist.com/in-the-lab/benign-familial-infant-epilepsy-prrt2-2012/ 61. 17 January 2012, Siasat Daily, “Epilepsy gene 'discovered'”. http://www.siasat.com/english/news/epilepsy-gene-discovered 62. 17 January 2012, Zee News, “Epilepsy gene 'discovered'”. http://zeenews.india.com/news/health/diseases/epilepsy-gene-discovered_15281.html 63. 17 January 2012, Deccan Herald, “Epilepsy gene 'discovered'”. http://www.deccanherald.com/content/219719/epilepsy-gene-discovered.html 64. 16 January 2012, International Business Times, “New Gene Discovery Unlocks Mystery to Epilepsy in Infants”. http://www.ibtimes.com/articles/282007/20120115/new-gene-discovery-unlocks-mystery-epilepsy- infants.htm 65. 16 January 2012, PhysOrg.com (Medical Xpress), “New gene discovery unlocks mystery to epilepsy in infants”. http://medicalxpress.com/news/2012-01-gene-discovery-mystery-epilepsy-infants.html 66. 16 January 2012, International Business Times, “Adelaide Researchers Uncovered Cause of Infant Epilepsy”. http://au.ibtimes.com/articles/282067/20120116/adelaide-researchers-uncovered-cause-infant- epilepsy.htm 67. 16 January 2012, International Business Times, “Adelaide Researchers Uncovered Cause of Infant Epilepsy”. http://www.ibtimes.com/articles/282067/20120116/adelaide-researchers-uncovered-cause-infant- epilepsy.htm 68. 16 January 2012, The Age, “Relief for familial epilepsy sufferers”. http://www.theage.com.au/victoria/relief-for-familial-epilepsy-sufferers-20120115-1q1mw.html 69. 16 January 2012, Medical Search, “Gene discovery unlocks mystery to epilepsy in infants”, http://www.medicalsearch.com.au/Features/Gene-discovery-unlocks-mystery-to-epilepsy-in-infants- 8823 70. 16 January 2012, The Australian, “Researchers discover source of infant epilepsy”. http://www.theaustralian.com.au/news/breaking-news/researchers-discover-source-of-infant- epilepsy/story-fn3dxity-1226245019319 71. 16 January 2012, Perth Now, “Researchers discover source of infant epilepsy”. http://www.perthnow.com.au/news/breaking-news/researchers-discover-source-of-infant- epilepsy/story-e6frg12u-1226245019319 Ingrid Scheffer 75

72. 16 January 2012, The Daily Telegraph, “Researchers discover source of infant epilepsy”. http://www.dailytelegraph.com.au/news/breaking-news/researchers-discover-source-of-infant- epilepsy/story-e6freuyi-1226245019319 73. 16 January 2012, Herald Sun, “Researchers discover source of infant epilepsy”. http://www.heraldsun.com.au/news/breaking-news/researchers-discover-source-of-infant- epilepsy/story-e6frf7jx-1226245019319 74. 16 January 2012, Adelaide Now, “Researchers discover source of infant epilepsy”. http://www.adelaidenow.com.au/news/south-australia/researchers-discover-source-of-infant- epilepsy/story-e6frea83-1226244896882 75. 16 January 2012, News.com.au, “Researchers discover source of infant epilepsy”. http://www.news.com.au/national/researchers-discover-source-of-infant-epilepsy/story-e6frfkvr- 1226245198820 76. 16 January 2012, Science Alert, “Study pins gene for epilepsy”. http://www.sciencealert.com.au/news/20121501-23002.html 77. 15 January 2012, Sky News Australia, “Researchers unlocks baby epilepsy cause”. http://www.skynews.com.au/health/article.aspx?id=707688 78. 15 January 2012, Big Pond, “Researchers unlocks baby epilepsy cause”. http://bigpondnews.com/articles/Health/2012/01/15/Researchers_unlocks_baby_epilepsy_cause_7 07688.html 79. 15 January 2012, Nine MSN- News & Current Affairs, “Researchers unlocks baby epilepsy cause”. http://www.currentaffairs.ninemsn.com.au/health/8403389/researchers-unlocks-baby-epilepsy- cause 80. 15 January 2012, News – Nine MSN, “Researchers unlocks baby epilepsy cause”. http://news.ninemsn.com.au/health/8403389/researchers-unlocks-baby-epilepsy-cause 81. 15 January 2012, The Coffs Coast Advocate, “Genetic cause of infant epilepsy”. http://www.coffscoastadvocate.com.au/story/2012/01/15/genetic-cause-infant-epilepsy/ 82. 15 January 2012, Sky News (online), “Researchers unlocks baby epilepsy cause”. http://www.skynews.com.au/health/article.aspx?id=707688&vId=2992260 83. 15 January 2012, The Age, “Relief for familial epilepsy sufferers” Report on the discovery of the gene PRRT2 for infantile epilepsy. 84. 15 January 2012, Health News, “New gene discovery unlocks mystery to epilepsy in infants”. http://www.healthcanal.com/genetics-birth-defects/25475-New-gene-discovery-unlocks-mystery- epilepsy-infants.html 85. 14 January 2012, CampusDaily.com.au, “New gene discovery unlocks mystery to epilepsy in infants”. http://www.campusdaily.com.au/read_university_news.php?title=new_gene_discovery_unlocks_my stery_to_epilepsy_in_infants_54705 86. 5 December 2011, The Age (online), “The Zone: Professor Ingrid Scheffer”. Transcript of interview and video about The Zone interview http://www.theage.com.au/opinion/society-and-culture/brain-matters-20111204-1oddc.html 87. 5 December 2011, The Age, The Zone (Michael Short), “Brain Matters”. 88. 21 November 2011, Austin Health Week At A Glance, “Accidental scientist driven to greatness by her desire to help patients”. 89. 11 November 2011, NHMRC website banner announcing L’Oreal-UNESCO award 90. 10 November 2011, Herald Sun, “International honour for epilepsy expert”. Ingrid Scheffer 76

91. 9 November 2011, The Australian online, “Epilepsy scientist wins big award”. http://www.theaustralian.com.au/news/latest-news/scientist-wins-global-award-for-epilepsy/story- fn3dxiwe-1226190387573 92. 8 November 2011, Courier Mail, The Daily Telegraph, “Scientist wins global award for epilepsy”. 93. August 2011, American Epilepsy Society: AES News. Spring/Summer 2011;20(2):5. “International Perspective”. 94. July 2011, Melbourne University Magazine, “Putting our heads together: Melbourne Brain Centre”. 95. 15 April 2011, “Breakthrough: Geelong researchers study autism; Barwon autism gene discovery project”. Geelong Advertiser 96. April 2011, Epilepsy Report (publication of Epilepsy Australia), “The 2nd Australian and New Zealand Dravet Family Conference”. 97. 17 May 2010, Neurology Update, “DPT vaccine does not cause or worsen Dravet syndrome”. 98. 5 May 2010, ABC Science (Tan Ee Lyn), “Vaccine may trigger infant epilepsy onset”. http://www.abc.net.au/science/articles/2010/05/05/2890848.htm#artBookmarks 99. 5 May 2010, Australian Science Media Centre (AusSMC), “Rapid Roundup: Vaccination linked with early onset of seizures in Dravet syndrome (Lancet Neurology) – Experts respond”. 100. 4 March 2009, Epilepsy New Zealand newsletter, “Understanding epilepsy genes; Research for a brighter future”. 101. 1 November 2008, Geelong Advertiser, “The new ‘epidemic’”. 102. 7 June 2007, University of Otago News, “Otago Gains Major Health Research Funding”. 103. 8 September 2006, The Age (online), “New diet gives epileptic children hope”. 104. 8 September 2006, Herald Sun, “A fat lot of good in Deana’s diet”. 105. 6 September 2006, Australian Associated Press, “Ketogenic diet for epilepsy”. 106. 21 April 2006, The Age, “Study quashes vaccine anxiety”. Study demonstrating that “vaccine encephalopathy” is due to SCN1A mutations. 107. August/September 2005, What’s New in Lab Technology, “Childhood epilepsy test”. Latest news on Bionomics’ gene test for Severe Myoclonic Epilepsy of Infancy. 108. 23 August 2005, The Australian (Clara Pirani), “New scan to treat epilepsy”. Report on latest brain scan techniques to identify potential candidates for epilepsy surgery. 109. July/August 2005, Australian Life Scientist (Graeme O’Neill), “The genetics of epilepsy”. Report on the genetic research done at the Epilepsy Research Centre. 110. 13 July 2005, Melbourne Times (Melissa Heagney), “Doctor’s gene research helps local patients”. Profile of a clinical research scientist. 111. June 2005, Australian Life Scientist (Graeme O’Neill), “Bionomic’s epilepsy diagnostic receives positive feedback”. 112. 27 November 2004, News-Medical “Bionomics licenses childhood epilepsy test”. Gene test for Severe Myoclonic Epilepsy of Infancy licensed to Athena Diagnostics http://www.news-medical.net 113. 27 September 2004, Biospace, “Bionomics Limited licences epilepsy test”. Gene test for Severe Myoclonic Epilepsy of Infancy licensed to Athena Diagnostics http://www.biospace.com Ingrid Scheffer 77

114. 27 September 2004, Australian Life Scientist (Graeme O’Neill), “Boston’s Athena Diagnostics to market Bionomics epilepsy test”. 115. 21 June 2004, News-Medical, “Bionomics and Nanogen reach milestone on the development of genetic tests for serious forms of childhood epilepsy”. Announcement of collaboration between Bionomics and Nanogen on clinical validation study for genetic test on Severe Myoclonic Epilepsy of Infancy http://www.news-medical.net 116. 13 May 2004, Biospace, “Publication of Epilepsy Research”. ‘Susceptibility’ gene for epilepsy discovered http://www.biospace.com 117. 15 February 2004, Herald Sun (Jen Kelly), “Families seize on gene discovery”. Report on familial infantile epilepsies. 118. 12 November 2002, The Australian (Bruce Montgomery), “Destigmatising epilepsy”. Report on genetic causes of epilepsy and research being done in this area. 119. 7 March 2000, The Bulletin (Graeme O’Neill), “Brain storms”. Researching genes for epilepsy. 120. Medscape CME. Advance in Paediatric Epilepsy (Martina Bebin), http://cme.medscape.com/viewarticle/551415.

Annual Newsletter and Wider Communication from our Epilepsy Genetics Research Group We publish a lay newsletter annually and send this out to about 6000 individuals including research participants, referring clinicians and interested supporters. This newsletter is carefully crafted to convey our latest discoveries in the field and provide education regarding epilepsy genetics and epilepsy more broadly. We receive very positive feedback about this newsletter from many members of the community. These newsletters can also be downloaded from our website. Our website (http://www.epilepsyresearch.org.au/) also includes information about our research group, members of the group, projects, etc. Useful links for people with epilepsy are also provided.

Involvement in the Wider Community

General Public – Epilepsy I am a member of the review and advisory panel for the national body of Epilepsy Australia. I have extensive involvement with regular parent education seminars (2–3 per year) in city and country Victoria over the last 19 years for Epilepsy Australia. I have also been a member of steering committees, and a medical consultant for educational materials. I also speak at an annual grandparents’ lunch dealing with aspects pertaining to their role as carers and family of a child with epilepsy. I will deliver the ‘Neurologist’s Perspective’ at the biennial Memorial Service for people with epilepsy, Epilepsy Awareness Week, St Mark’s Church, Melbourne, 16 March 2014. I have organized both the four Australian and New Zealand Dravet Families’ Conferences which now have over 100 participants. I arrange a day of talks to update families on the latest research into this severe disorder and facilitate communication betweeen families. I have done this with devoted families and Epilepsy Australia in 2004, 2006, 2010 and 2014. I have also spoken to parents in Adelaide, London, Montreal and the US. This was to provide feedback and education to families who had kindly participated in my research studies. I am a member of the Scientific Advisory Board of Dravet.org – the lay body for Dravet syndrome. They have asked me to speak at their biennial meeting in 2010 and 2012 as I was not able to attend in 2008. Ingrid Scheffer 78

Plenary Lecture: “Vaccination and gait in Dravet syndrome”. Dravet.ca family, physician and researcher conference 2013. Canadian Dravet Family society, Montreal, Canada, 22 June 2013. Plenary Lecture: “Vaccination and Gait in Dravet syndrome”. Dravet.org, US, 17 August 2012 Invited Lecture: “Specific gene testing”, Queensland Epilepsy Symposia, Brisbane, Australia, 4 November 2011. Parents of children with intractable epilepsy from North Auckland Support Group. Invited speaker for their weekend, New Zealand, June 3–5, 1999; November, 2003.

General Public – Science and Women in Science Interview at the Award ceremony for the 2014 L’Oréal Australia and New Zealand For Women in Science Fellows, Melbourne, 12 August 2014, Plenary speaker, Richard and Janet Southby Visiting Fellow, Geelong Grammar School, 12 March 2014. Invited panellist: “Women of Influence” brunch, MLC, 18 August 2013 Invited speaker: “Women in Science” Science week, St Catherine’s School, 20 August 2013 Plenary Lecture: “Australian Science”, Australian Embassy Reception - Permanent Delegatation to UNESCO, Paris, France, 28 March 2012 Invited speaker: “The joys of science”, Carrington Primary School, 24 August 2012. Invited speaker: “Why be a scientist?”, Carrington Primary School, June 2010. Invited speaker: “Scientific research: an inspiring career”. Carrington Primary School. May 27, 2002. Talking to primary students about a career in medical research and especially presenting as a female role model for the students.

Videotape for Patient and Family Use Entitled “Making Sense of Epilepsy Investigations” This project grew from my concern that patients and their families were not able to prepare themselves for the myriad of investigations involved in epilepsy characterisation. I helped in script writing and ensured that the video production showed the important aspects of each investigation and highlighted the aim of each test. The videotape has proven extremely helpful in preparing patients for this gruelling process.

Professional Groups Lectures to general practitioners, teachers, Australian Early Intervention Association, Victorian Speech Pathologists Workshop, Victorian Pharmaceutical Society, Neurophysiological Sciences Society of Australia, Victorian Paediatric Nurses' Association, Angelman Syndrome Society, Tuberous Sclerosis support group, Neuropsychologists, Early Childhood Resource Group.

Mentorship I have had an increasing role in mentoring young people, scientists and physicians. I am involved in the “Women of Influence” program at my school, Methodist Ladies College. I have also attended other schools to talk about women in science. I have participated in the Women in Science program at the Walter and Eliza Hall Institute and spoken at a Women in Medical Research Symposium at The University of Melbourne. I also mentor paediatric trainees and paediatric and adult neurologists in many settings including other countries. Giuseppe Testa, MD, PhD, MA

Curriculum Vitae

Date and place of birth: 19 January 1972, Naples (Italy)

Current position (since 2006): Principal investigator Director, Laboratory of Stem Cell Epigenetics Deputy Principal Investigator Research Unit on Biomedical Humanities European Institute of Oncology Milan, Italy

Webpages: https://www.ieo.it/English/OUR_RESEARCH/research/Basic/Pages/GiuseppeTesta.a spx https://www.ieo.it/English/OUR_RESEARCH/research/Medical_Humanities/Pages/Bi omedicalHumanities.aspx

Previous positions 2003-2005: Visiting fellow, Berlin Institute of Advanced Studies, Berlin, Germany Visiting fellow, Program on Science Technology and Society at the Kennedy School of Government of Harvard University (http://sts.hks.harvard.edu/people/fellows/testa.html) 2002-2005: Postdoctoral fellow, Max Planck Institute of Molecular Cell Biology and Dresden University of Technology, Dresden, Germany 1997-2002: PhD student, European Molecular Biology Laboratory, Heidelberg, Germany

Academic titles and appointments 1996: M.D., University of Perugia Medical School, with honors (110/110 e lode) 1997: Medical Licensing Examination 2002: PhD, European Molecular Biology Laboratory (EMBL) in cooperation with the Open University, Heidelberg 2007: MA in Health Care Ethics and Law, University of Manchester (with distinction) 2008: Appointed Distinguished International Scholar at the University of Pennsylvania (UPenn), Philadelphia 2014: Adjunct faculty at the Lieber Institute for Brain Development, (Baltimore, USA)

Scientific prizes: 2003: Roche Prize for “Leading Bioscientists of the Next Decade” 1997: Prize "Luigi Manara" from the University of Perugia for the medical student with the best academic curriculum. 1997: National prize "Luigi Casati" from the "Accademia dei Lincei" for the best MD thesis defended during the year 1996 1995: Prize of the Foundation "Francesco Rebucci" for students and young graduates performing research in experimental oncology

Organization of international conferences 2011: Giuseppe Testa, Raymond Poot and Helena Mira ‘Biology of Neural Systems’, a workshop of the EU Research Network EuroSyStem European Institute of Oncology, Milan 4-6 December

Giuseppe Testa, Sheila Jasanoff and Halldor Stefansson EMBL Summer School ‘The human animal: scientific, social and moral perspectives' EMBL, Heidelberg 1-6 August

2009: Giuseppe Testa, Stefano Casola and Thomas Graf ‘Reprogramming cell fate: basic biology and medical perspectives’ IFOM-IEO-Campus, Milan December 9-11

2008: Giuseppe Testa, Sheila Jasanoff and Halldor Stefansson EMBL Summer School 'Deconstructing and reconstructing life: from classification to design' EMBL, Heidelberg August 25-30

2007: Giuseppe Testa and Christina Brandt ‘Times of cloning: historical and cultural aspects of a biotechnological research field’ Max Planck Institute for the History of Science, Berlin March 1-4

2004: Giuseppe Testa and Giorgio Vasta International workshop on Life Sciences and Narratives ‘Embryos and plots: public lectures on science and narratives’ Holden School of creative writing and narrative studies, Turin March 22-26

2000: Co-organizer of the first International PhD symposium on Neurobiology "From Genes to Thoughts" EMBL, Heidelberg October 20-21

Selected invited talks and communications

2014: -Joint Meeting of the British Societies for Cell Biology and Developmental Biology, Warwick University, 16-19 March -Tagung Ethik der Epigenetik, Zentrum für Gesundheitsethik (ZfG) an der Evangelischen Akademie Loccum -G. Armenise Harvard Foundation 15th Symposium ‘Mechanisms to Molecules’, 22-25 June

2013: -Christian-Albrechts-Universität zu Kiel Symposium ‘Das Ende der Wissenschaft und darüber hinaus’ Part II, 8 November

-3rd Oxford Symposium on Epigenetic Mechanisms in Health and Disease “Neuropsychiatry and Inflammation: Epigenetic Target Discovery Beyond Oncology”, University of Oxford (UK) March 14-15

2012: -Stem Cell Technologies in Functional Genomics, Lieber Institute for Brain Development, Maltz Research Laboratories, Baltimore (USA) November 26- 27 -Roche-Nature Medicine Translational Neuroscience Symposium “Autism Spectrum Disorders: From Biological Understanding to Therapeutic Strategies”, Buonas (Switzerland) April 23-25 -Cold Spring Harbor Workshop on Stem Cells, July 27-August 5

2011: -International Symposium on Clinical and Basic Investigation in Glioblastoma, Valencia, 23-25 June

2 -Keynote lecture, ‘Looking back ahead. The 10th Anniversary of the Human Genome and Its Implications for Science and Society’, University of Wien, May 17 -Meeting of the Ethics and Public Policy Committee of the International Society of Stem Cell Research (ISSCR) ‘Pathways Towards a Sustainable Ethics of Human Stem Cell Research’, Brocher Foundation, Geneve December 1-2

2010: -Cold Spring Harbor Workshop on Stem Cells, July 30-August 8

2009: -Guest lectures and courses as Distinguished International Professor at the University of Pennsylvania

2008: -Cold Spring Harbor Workshop on Stem Cell Technologies, August 6-13

2003: -Fifth International Workshop on Advanced Genomics, Yokohama (Japan), 26-27 June

Academic honors and appointments to scientific bodies and editorial boards • European Research Council (ERC) Consolidator Grant 2013 awardee • Appointed to the Editorial Board of Cell Press journal Stem Cell Reports • Appointed to the Editorial Board of Frontiers in Genetics and Bioengineering • Appointed to the Editorial Board of Journal of Medical Ethics • Elected member of the governing Council of the Italian Society of Cell Biology and Differentiation (ABCD – Associazione di Biologia Cellulare e Differenziamento) for the 2014-2016 term • Member of the Ethics and Public Policy Committee of the International Society for Stem Cell Research (ISSCR) • Member of the International Affairs Committee of the International Society for Stem Cell Research (ISSCR) • Member of the Working Group on Ethics of the International Human Epigenome Consortium (IHEC) • Member of the Executive Committee of the Italian National Research Council (CNR) Flagship Project EPIGEN • Chair of the Ethics Advisory Board of the EU Network MODHEP ‘Systems Biology of Liver Cancer: an Integrative Genomic-Epigenomic Approach’ • Elected to the governing Council of the International Society for the History, Philosophy and Social Studies of Biology (ISSHPSB) for the 2011-2015 term • Appointed to the Management Committee of the European COST action ‘Bio- objects and their Boundaries: Governing Matters at the Intersection of Society, Policy and Science’ (http://www.cost.eu/domains_actions/isch/Actions/IS1001) • Appointed to the Management Committee of the European COST action ‘Citizen's Health through public-private Initiatives: Public health, Market and Ethical perspectives (CHIP ME)’ (http://www.cost.eu/domains_actions/isch/Actions/IS1303) • Associate Principal Investigator of the EU Research Network EuroSyStem • Ethics Advisor of the EU Research Networks ESTools and NeuroStemCell • Member of the Ethics Advisory Board of the Human Genetics Foundation (HUGEF), Turin, Italy

Studies and research 2006- present • Director of the Laboratory of Stem Cell Epigenetics at the European Institute of Oncology, Milan, Italy

3 • Deputy Principal Investigator of the Research Unit on Biomedical Humanities • Co-founder of the interdisciplinary PhD program on Foundations and Ethics of the Life Sciences (Folsatec) at the European School of Molecular Medicine, Milan, Italy

2002-2005 • Postdoctoral fellow at the Max Planck Institute of Molecular Cell Biology and Genetics and the Dresden University of Technology. Research theme: epigenetic regulation and genome engineering of embryonic stem cells • Visiting fellow, Program on Science Technology and Society at the Kennedy School of Government of Harvard University (http://sts.hks.harvard.edu/people/fellows/testa.html) • Visiting fellow, Berlin Institute of Advanced Studies • Winner of the Branco Weiss Fellowship "Society in Science" • Founder and chairman of the ‘Forum on Science and Society’ of the Max-Planck Institute for Molecular Cell Biology and Genetics, Dresden

1997-2002 • PhD Program in Molecular and Cellular Biology at the European Molecular Biology Laboratory (EMBL Heidelberg) in the laboratory of Dr. A. Francis Stewart. Research theme and PhD thesis title: ‘Modeling leukemia in the mouse: novel strategies in genome engineering’ • European Doctorate in Biotechnology awarded by the European Association for Higher Education in Biotechnology (HEduBT) for excellence of research in the field of biotechnology

1990-1996 • Medical school at the University of Perugia (Italy), including research studentships at the Clinical Research Centre, Harrow (UK)(Hounsell Lab) and the College of Physicians and Surgeons of Columbia University (New York)(Dalla- Favera Lab) • Medical Doctor (MD) thesis in Molecular Immunopharmacology at the University of Perugia with Prof. Carlo Riccardi. • Graduation from the University of Perugia Medical School with the highest grade and honors (110/110 summa cum laude) • Medical licensing examination from the University of Perugia

Languages Italian: mother language English: fluent, written and oral -Certificate of Proficiency in English of the University of Cambridge with the grade "A" -Test of English as a foreign language (TOEFL) with a score of 670/670 German: fluent, written and oral Zertifikat Deutsch als Fremdesprache (ZDaF) with the grade "gut" French: basic

Publications

Peer reviewed articles

1. C. Palacios, J. Harris and G. Testa Multiplex parenting: In Vitro Gametes and the generations to come Journal of Medical Ethics (in press, 2014)

4 2. M. Caganova, C. Carrisi, F. Mainoldi, F. Zanardi, P.L. Germain, L. George, F. Alberghini, G. Varano, L. Ferrarini, A.K. Talukder, M. Ponzoni, G. Testa, T. Nojima, C. Doglioni, D. Kitamura, K.M. Toellner, I. Su and S. Casola EZH2 contributes to lymphomagenesis via regulation of the germinal center response Journal of Clinical Investigation 123(12), 2013:5009-22 3. L. Schneider, S. Pellegatta, R. Favaro, F. Pisati, P. Roncaglia, G. Testa, S.K. Nicolis, G. Finocchiaro and F. D’Adda di Fagagna DNA damage in mammalian neural stem cells leads to astrocytic differentiation mediated by BMP2 signaling through JAK-STAT Stem Cell Reports (in press, DOI: 10.1016/j.stemcr.2013.06.004 4. G. Fragola, P.L. Germain, P. Laise, A. Cuomo, A. Blasimme, F. Gross, E. Signaroldi, G. Bucci, C. Sommer, G. Pruneri, G. Mazzarol, T. Bonaldi, G. Mostoslavsky, S. Casola and G. Testa Cell reprogramming requires silencing of a core subset of Polycomb targets PLoS Genetics 9(2), 2013: e1003292 5. A. Blasimme, B. Schmietow and G. Testa Reprogramming potentiality: the co-production of stem cell policy and democracy American Journal of Bioethics 13(1), 2013: 30-2 6. T. Burgold, N. Voituron, M. Caganova, P.P. Tripathi, C Menuet, B.K. Tusi, F. Spreafico, M. Bévengut, C. Gestreau, S. Buontempo, A. Simeone, L. Kruidenier, G. Natoli, S. Casola, G. Hilaire and G. Testa The H3K27 demethylase JMJD3 is required for maintenance of the embryonic respiratory neuronal network, neonatal breathing and survival, Cell Reports 2(5), 2012: 1244-58 7. L. Austenaa, I. Barozzi, A. Chronowska, A. Termanini, R. Ostuni, F. Stewart, G. Testa and G. Natoli The histone methyltransferase Wbp7 (Mll4) controls macrophage function through GPI anchor synthesis, Immunity 36(4), 2012: 572-85 8. M. Curnutte and G. Testa Consuming genomes: scientific and social innovation in direct-to-consumer genetic testing (2012) New Genetics and Society, 31:2, 159-181 9. S. Campaner, F. Spreafico, T. Burgold, M. Doni, U. Rosato, B. Amati, and G. Testa The methyltransferase Set7/9(Setd7) is dispensable for the p53- mediated DNA damage response Molecular Cell 43, 2011; 681-688 10. G. Testa The time of timing: How Polycomb proteins regulate neurogenesis Bioessays, 2011; 33(7):519-28 11. G. Boniolo and G. Testa The Identity of Living Beings, Epigenetics, and the Modesty of Philosophy. Erkenntnis, 2011; DOI 10.1007/s10670-011-9308-9 12. C.E. Pasi, A. Dereli-Oz, S. Negrini, M. Friedli, G. Fragola, A. Lombardo, G. Van Houwe, L. Naldini, S. Casola, G. Testa, D. Trono, P.G. Pelicci, and T.D. Halazonetis Genomic instability in induced stem cells Cell Death and Differentiation, 2011; 18(5):745-53 13. G. Testa Stem Cell Teathrics Nature 2010, 465: 1012 14. G. Testa What to do with the Grail now that we have it? iPSCs, potentiality, and public policy. Cell Stem Cell, 2009 5(4):358-9 15. F. De Santa, N. Vipin, Z. H.Yap; B. K.Tusi, T. Burgold, L. Austenaa, G.Bucci, M.Caganova, S. Notarbartolo, S. Casola, G. Testa, W. Sung, C. Wei and G. Natoli Jmjd3 contributes to the control of gene expression in LPS activated macrophages The EMBO Journal, 2009; 28(21):3341-52 16. G. Natoli, G. Testa and F. De Santa The future therapeutic potential of histone demethylases: a critical analysis Current Opinion in Drug Discovery and Development 2009; 12(5):607-15 17. L. Skene, G. Testa, I. Hyun, K. W. Jung, A. McNab, J. Robertson, C. T. Scott, J. H. Solbakk, P. Taylor, L. Zoloth Ethics Report on Interspecies Somatic Cell Nuclear Transfer Research Cell Stem Cell, 2009; 5(1): 27-30

5 18. T. Burgold, F. Spreafico, F. De Santa, M. Totaro, E. Prosperini, G. Natoli and G. Testa The histone H3 lysine 27-specific demethylase Jmjd3 is required for neural commitment PloS One 2008 3(8): e3034 19. J.A. Adjaye, A.G. Byskov, J.B. Cibelli, R. De Maria, S. Minger, M. Sampaolesi, G. Testa, C. Verfaillie, M. Zernicka-Goetz, H. Schöler, M. Boiani, N. Crosetto, C.A. Redi Pluripotency and differentiation in embryos and stem cells Int J Dev Biol 2008 52(7):801-9 20. G. Testa Stem cells through stem beliefs: the co-production of biotechnological pluralism Science as Culture 2008 17(4): 435-448 21. F. De Santa, M. Totaro, E. Prosperini, S. Notarbartolo, G. Testa, and G. Natoli The histone H3 lysine-27 demethylase Jmjd3 links inflammation to inhibition of polycomb-mediated gene silencing Cell 2007 130(6):1083-94 22. I. Hyun*, P. Taylor*, G. Testa*, B. Dickens, K. W. Jung, A. McNab, J. Robertson, L. Skene and L. Zoloth Ethical Standards for Human-to-Animal Chimera Experiments in Stem Cell Research Cell Stem Cell 2007 1(2):159- 163 *equal contribution 23. G. Testa, L. Borghese, J. Steinbeck, and O. Brüstle Breakdown of the Potentiality Principle and Its Impact on Global Stem Cell Research Cell Stem Cell 2007 1(2):153-156 24. J. Scholten, K. Hartmann, A. Gerbaulet, T. Krieg, W. Müller, G. Testa, and A. Roers Mast cell-specific Cre/loxP-mediated recombination in vivo Transgenic Res. Epub 2007 Oct 31 (2008 (2):307-15) 25. G. Testa Nuclear Transfer: an Example of Responsive Epistemologies Preprint 310 of the Proceedings of the Max Planck Institute for the History of Science 2006 pp. 205-214 26. G. Testa and J. Harris Ethics and synthetic gametes Bioethics, 2005; 19: 146-166 27. G. Testa and J. Harris Ethical aspects of ES cell-derived gametes Science, 2004; 305:1719 28. G. Testa and J. Harris The ethics of deriving gametes from ES cells, response to A. Lippman and S.A. Newman Science, 2005;307: 515c-517c 29. G. Testa, J. Schaft, F.v.d. Hoeven, S. Glaser, Y. Zhang, T. Hermann, W. Stremmel and A. F. Stewart A reliable lacZ expression reporter cassette for multipurpose, knock-out-first, alleles Genesis, 2004, 38(3):151-8 30. G. Testa, K. Vintersten, Y. Zhang, V. Benes, J.P.P. Muyrers and A. F. Stewart BAC Engineering for the generation of ES cell-targeting constructs and mouse transgenes Methods Mol Biol. 2004; 256:141-58 31. K. Vintersten, G. Testa, A. F. Stewart. Microinjection of BAC DNA into the pronucei of fertilised mouse oocytes Methods Mol Biol. 2004; 256: 141-58 32. J.P.P. Muyrers, Y. Zhang, V. Benes, J.M.J. Rientjes, G. Testa and A. F. Stewart ET recombination: DNA engineering using homologous recombination in E. coli Methods Mol Biol. 2004; 256: 107-22 33. G. Testa, Y. Zhang, K. Vintersten, V. Benes, I. Chambers, W. W. M. Pim Pijnappel, A. J.H. Smith, A. A. Smith and A. F. Stewart Engineering the mouse genome with bacterial artificial chromosomes to create multipurpose alleles Nature Biotechnology, 2003; 21(4): 443-7 34. T. Schell, G. Testa, S. Castagnetti, B. Rutz, M. Hannus and F. Frischknecht Neuroscience from different angles. Student symposium: From genes to thoughts EMBO Reports 2001 Jun; 2(6):471-5 35. G. Testa and A. F. Stewart Creating a transloxation: engineering interchromosomal translocations in the mouse EMBO Reports, 2000 Aug; 1(2):120-1 36. Y. Zhang, J. P. P. Muyrers, G. Testa and A. F. Stewart DNA cloning by homologous recombination in Escherichia coli. Nature Biotechnology 2000 Dec; 18(12):1314-7

6 37. J. P. P. Muyrers, Y. Zhang, V. Benes, G. Testa, W. Ansorge and A. F. Stewart Point mutation of bacterial artificial chromosomes by ET recombination. EMBO Reports 2000 Sep; 1(3):239-43 38. J. P. P. Muyrers, Y. Zhang, G. Testa and A. F. Stewart Rapid modification of bacterial artificial chromosomes by ET-recombination Nucleic Acid Research, 1999 Mar 15; 27(6): 1555-1557 39. G. Nocentini, S. Ronchetti, A. Bartoli, G. Testa, F. D’Adamio, C. Riccardi and G. Migliorati TCRi: an alternatively sliced product of the T cell receptor zeta gene European Journal of Immunology 1995 25: 1405-1409

Peer-reviewed books and book chapters

1. G. Testa ‘Democracies of stemness: stem cell technologies from generation to regeneration’ in F. Calegari and C. Waskow (Eds.) ‘Stem Cells. From Basic Research to Therapy’, CRC Press (in press, 2014) 2. G. Testa and A. Maturo ‘Medicina rigenerativa ed embrioni’, in G. remuzzi and A. Maturo (Eds.) ‘Ci curano o ci curiamo? Il malato tra crisi economica e responsabilità individuale’, Franco Angeli, Milano 2013 3. G. Testa ‘Stem cells and the structuring of the Italian biopolity’ in H. R. Rheinberger and R. Mazzolini (Eds.) ‘Different routes to stem cell research: Germany and Italy’, Il Mulino (Bologna) and Duncker & Humblot (Berlin)(2012) 4. G. Testa ´More Than Just a Nucleus: Cloning and the Alignment of Scientific and Political Rationalities´ in Sheila Jasanoff (Ed.) ´Reframing Rights: Bioconstitutionalism in the Genetic Age´, 2011 MIT Press, pp. 86-104 5. H. Nowotny and G. Testa Naked Genes. Reinventing the Human in the Molecular Age, 2011 MIT Press (originally appeared as 'Die gläsernen Gene. Die Erfindung des Individuums im molekularen Zeitalter’, 2009 Suhrkamp Verlag; Italian translation ‘Geni a nudo. Ripensare l’uomo nel XXI secolo’, Codice Edizioni 2012; Russian translation forthcoming) Reviewed in Nature, The Financial Times, Die Zeit, Der Spiegel, Il Corriere della Sera, BBC Science 6. G. Testa ´Cloning as Mirror´ in Cristoph Zollikofer (Ed.) ´Klon statt Person´, 2011 Hochschulverlag AG an der ETH Zuerich, pp. 45-50 7. G. Testa ´Le scienze della vita. Verso nuove antropogenesi?´ in Antonio Pavan and Emanuela Magno (Eds.) ´Antropogenesi. Ricerche sull'origine e lo sviluppo del fenomeno umano´ 2010, Il Mulino 8. G. Boniolo, G. Gatti, G. Pelicci and G. Testa Cellule staminali. La base scientifica, le future terapie. La riflessione etica al di là dello slogan ideologico. Le risposte della scienza. Quaderno 11 Libertà di sapere libertà di scegliere Fondazione Umberto Veronesi per il progresso delle scienze 9. G. Testa and S. Giaimo ´Il concetto di gene´ in Giovanni Boniolo e Stefano Giaimo (Eds.) ´Filosofia e Scienze della Vita. Un´analisi dei fondamenti della biologia e della biomedicina´ 2008 Bruno Mondadori 10. G. Testa and A. Minelli ´Vincoli ed epigenesi´ in Giovanni Boniolo e Stefano Giaimo (Eds.) ´Filosofia e Scienze della Vita. Un´analisi dei fondamenti delal biologia e della biomedicina´ 2008 Bruno Mondadori

7 11. G. Testa ´Che cos'è un clone? Practiche e significato delle biotecnologie rosse in un mondo globale´ in Massimiano Bucchi and Federico Neresini (Eds.) ´Cellule e Cittadini´ (Cells and citizens), 2006 Sironi Editore

8

Caleb Webber

I obtained my PhD in 2003 from the European Bioinformatics Institute, The Wellcome Trust Genome Campus, Hinxton Cambridge and from the Department of Genetics, Cambridge University. Afterwards I returned to Oxford to work with Prof. Chris Ponting on most of the major large-scale genome projects of the last decade. My interest in synteny breaks from those projects led to an interest in copy number variation, and in turn to the role of genetic variation in disease.

I am strongly collaborative with many European and International partnerships, especially through the Genetics of Cognitive Dysfunction (Gencodys) Consortium and through the IMI StemBANCC consortium, where I lead the Data Interpretation package. If you think we could do something fun together, drop me an email.

LUIS ALBERTO PEREZ JURADO

Full university professor, Department of Experimental and Health Sciences, Human Genetics Research Group

Ultimi Articoli

Serra-Juhé C, Cuscó I, Homs A, Flores R, Torán N, Pérez-Jurado LA. DNA methylation abnormalities in congenital heart disease (in press). Epigenetics 2015; : 0-0. González JR, Cáceres A, Esko T, Cuscó I, Puig M, Esnaola M, Reina J, Siroux V, Bouzigon E, Nadif R, Reinmaa E, Milani L, Bustamante M,Jarvis D, Antó JM, Sunyer J, Demenais F, Kogevinas M, Metspalu A, Cáceres M, Pérez-Jurado LA. A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity. American Journal of Human Genetics 2014; 94(3): 361-372. Binelli C, Subirà S, Batalla A, Muñiz A, Sugranyés G, Crippa J, Farré M, Perez-Jurado L, Martín-Santos R. Common and distinct neural correlates of facial emotion processing in social anxiety disorder and Williams syndrome: A systematic review and voxel-based meta-analysis of functional resonance imaging studies (in press). Neuropsychologia 2014; 64C: 205-217. Argente J, Flores R, Gutiérrez-Arumí A, Verma B, Martos-Moreno GÁ, Cuscó I, Oghabian A, Chowen JA, Frilander MJ, Pérez-Jurado LA. Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency. EMBO Molecular Medicine 2014; 6(3): 299-306.

STAGE

Análisis de variantes parálogas de secuencia responsables de variabilidad humana y enfermedad. 01/01/2009 - 01/01/2010 Departamento de Ciencias Genómicas, Universidad de Washington Seattle ( United States of America )

Formación en genética médica y genética molecular humana. Investigación sobre las bases moleculares de enfermedades genéticas. 01/01/1992 - 01/01/1995 Stanford University ( United States of America )

Análisis estructural y localización del gen del factor liberador de hormona de crecimiento. 01/09/1990 - 01/03/1991 Vanderbilt University ( United States of America )

Evento formativo Residenziale CONVEGNO 10th International Meeting on Copy Number Variants and Genes in Intellectual Disability and Autism 16-18 Aprile 2015

RILEVANZA L’evento internazionale “10th International Meeting on CNVs and Genes in Intellectual Disability and Autism” è focallizzato sull’aggiornamento nel tema dei disordini genomici e dei nuovi geni coinvolti nell’eziologia della Disabilità Intellettiva e dell’Autismo. L’evento è suddiviso in quattro argomenti, per ognuno dei quali si alterneranno docenti internazionali esperti nella materia. Il primo argomento è la Disabilità Intellettiva e sarà svolto con una relazione introduttiva di Bert de Vries, alla quale seguirà la relazione di David Koolen sugli aspetti di genetica clinica della sindrome di Koolen-De Vries, quella di Luis Perez Jurado sui riarrangiamenti reciproci a livello del locus 7q11.23, di Hitoshi Okazawa sul trattamento in utero delle mutazioni di PQBP1 e di Jozef Gecz sugli effetti delle mutazioni di PCDH19. La seconda sessione riguarderà i modelli animali e la genomica funzionale ed inizierà con la relazione introduttiva di Frank Kooy, che sarà seguita dalla relazione di Jean Maurice Delabar sui trattamenti prenatali murini nella trisomia 21, di Giuseppe Testa sull’utilizzo della riprogrammazione cellulare nella costruzione di modelli funzionali dei disordini genomici, e di Peter Kind sui modelli murini di malattie genetiche coinvolgenti le sinapsi, i circuiti neuronali ed il comportamento. La terza sessione riguarderà l’epilessia e, dopo la relazione introduttiva di Heather Mefford, comprenderà le relazioni di Renzo Guerrini sul ruolo delle malformazioni dello sviluppo corticale e di Ingrid Scheffer sui nuovi geni e fenotipi implicati nelle encefalopatie epilettiche. L’ultima sessione sarà dedicata ai disordini dello spettro autistico e, dopo la relazione introduttiva di Evan Eichler, comprenderà la relazione di Caleb Webber sulle reti geniche coinvolte e di Silvia De Rubeis sui geni sinaptici, trascrizionali e cromatinici compromessi nell’autismo.

FINALITÀ Il convegno, attraverso la presenza di qualificati relatori internazionali, intende aggiornare i partecipanti sugli ultimi studi e ricerche inerenti i disordini genomici e i nuovi geni coinvolti nell’eziologia della Disabilità Intellettiva, dei disturbi dello spettro dell’ autismo, delle epilessie.

OBIETTIVI Grazie alla partecipazione al congresso i presenti potranno

Ampliare le proprie conoscenze disordini genomici e i nuovi geni coinvolti nell’eziologia della Disabilità Intellettiva, dei disturbi dello spettro dell’ autismo, delle epilessie Accrescere le proprie competenze nell’ambito della ricerca mutazioni e la genetica nell’ambito dei disturbi dello spettro dell’ autismo, della disabilità intellettiva, delle epilessie. Confrontarsi con qualificati ricercatori provenienti dai maggiori centri di ricerca internazionali.

OBIETTIVO FORMATIVO ECM 18 - Contenuti tecnico-professionali (conoscenze e competenze) specifici di ciascuna professione, di ciascuna specializzazione e di ciascuna attività ultraspecialistica

METODOLOGIA DIDATTICA Relazioni su temi preordinati, Discussione in assemblea.

MODALITÀ PER LA VALUTAZIONE DELL’APPRENDIMENTO Questionario a risposta multipla con soglia del 75% di risposte esatte

M. 0701-08 Rev. 00 del 07/04/2014 10° – Congresso International Meeting on Copy Number Edizione 1 Rev.00 del 06/03/2015 Variants and Genes in Intellectual Disability and Autism

Evento formativo Residenziale CONVEGNO 10th International Meeting on Copy Number Variants and Genes in Intellectual Disability and Autism 16-18 Aprile 2015

DESTINATARI Figure professionali accreditate: Medico chirurgo (tutte le discipline), biologo e tecnico sanitario di laboratorio Numero massimo di partecipanti: 100

Programma

GIOVEDI’ 16 APRILE SESSION 1: Syndromic Intellectual Disability (Chair: Bert de Vries , Nijmegen, The Netherlands)

09.30-10.00 Opening Keynote Lecture (Bert de Vries - Nijmegen, The Netherlands) 10.00-10.30 Clinical genetic aspects of the Koolen-De Vries syndrome (David Koolen, Nijmegen, The Netherlands) 10.30-11.00 Reciprocal rearrangements and phenotypes at 7q11.23: Williams-Beuren and the microduplication syndromes (Luis Perez Jurado, Barcelona, Spain) 11.00-11.15 Pausa 11.15-11.45 In utero treatment for PQBP-1 gene mutations (Hitoshi Okazawa, Tokyo, Japan) 11.45-12.15 PCDH19 epilepsy, autism and intellectual disability limited to females (Jozef Gecz Adelaide, Australia)

Discussione e interventi programmati

SESSION 2: Animal Models and Functional Genomics (Chair: Frank Kooy , Antwerp, Belgium)

15.00-15.30 Opening Keynote Lecture (Frank Kooy , Antwerp, Belgium) 15.30-16.00 Modeling prenatal treatments for trisomy 21 in mice (Jean Maurice Delabar, Paris, France) 16.00-16.30 Disease avatars: towards a functional annotation of human genomes by cell reprogramming (Giuseppe Testa, Milan, Italy) 16.30-17.00 Modelling ID/ASD disorders in rats: from synapses to circuits to behavior (Peter Kind, Edinburgh, United Kingdom) Discussione e interventi programmati

VENERDI’ 17 APRILE SESSION 3: Epilepsy (Chair: Heather Mefford, Seattle, USA)

09.30-10.00 Opening Keynote Lecture (Heather Mefford, Seattle, USA) 10.00-10.30 Malformations of cortical development, intellectual disability and epilepsy: clinical and genetic findings (Renzo Guerrini, Florence, Italy) 10.30-11.00 Epileptic encephalopathy: Novel genes and phenotypes (Ingrid Scheffer, Melbourne, Australia)

Discussione e interventi programmati

SABATO 17 APRILE SESSION 4: Autism Spectrum Disorders (Chair: Evan Eichler , Seattle, USA)

09.30-10.15 Opening Keynote Lecture (Evan Eichler , Seattle, USA) 10.15-10.45 Networks of genes, epistasis and a functionally-clustered genome (Caleb Webber, Oxford, UK) 10.45-11.15 Synaptic, transcriptional and chromatin genes disrupted in autism (Silvia De Rubeis, New York, USA)

M. 0701-08 Rev. 00 del 07/04/2014 10° – Congresso International Meeting on Copy Number Edizione 1 Rev.00 del 06/03/2015 Variants and Genes in Intellectual Disability and Autism

Evento formativo Residenziale CONVEGNO 10th International Meeting on Copy Number Variants and Genes in Intellectual Disability and Autism 16-18 Aprile 2015

Discussione e interventi programmati Conclusione

RESPONSABILE SCIENTIFICO Corrado Romano – Direttore UOC di Pediatria e Genetica Medica – IRCCS Oasi Maria SS. – Troina (En)

COORDINAMENTO DIDATTICO Carolina Tomasi – Responsabile Ufficio Formazione Permanente e ECM – IRCCS Oasi Maria SS. – Troina (En)

SEGRETERIA ORGANIZZATIVA Eleonora Di Fatta – Direzione Scientifica - IRCCS Oasi Maria SS. – Troina (EN) Rosy Di Giorgio – Direzione Scientifica - IRCCS Oasi Maria SS. – Troina (EN) Fabio Vezzuto – Ufficio Formazione Permanente e ECM – IRCCS Oasi Maria SS. – Troina (EN)

INFORMAZIONI GENERALI

COME ISCRIVERSI Compilare la scheda online di iscrizione sul sito www.irccs.oasi.en.it/meeting2015

FONTI DI FINANZIAMENTO Sulla base dell’Accordo sottoscritto con l’Assessorato Regionale Sanità e l’Assessorato alla Famiglia e Politiche Sociale che ha assegnato all’IRCCS un budget specifico per la formazione degli operatori del SSR e delle Scuole, la partecipazione è gratuita.

REGISTRAZIONE PARTECIPANTI E RILASCIO ATTESTATI Le operazioni di registrazione dei partecipanti saranno effettuate dalle ore 08:30 alle ore 09:00. Al termine del convegno sarà rilasciato, via email, un attestato di partecipazione e entro 60 giorni dalla conclusione del convegno, l’attestato con i crediti formativi ECM.

Si ricorda che per acquisire l’attestato ECM occorre garantire la presenza in aula per l’intera durata dell’evento (100%) e il superamento (minimo 75%) della prova di valutazione dell’apprendimento.

Allegato 1 – Curriculum Responsabile Scientifico Allegato 2 – Curricula Relatori

M. 0701-08 Rev. 00 del 07/04/2014 10° – Congresso International Meeting on Copy Number Edizione 1 Rev.00 del 06/03/2015 Variants and Genes in Intellectual Disability and Autism