Volume 4, Number 6, December 2018 Neurology.org/NG A peer-reviewed clinical and translational neurology open access journal ARTICLE Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy e281 ARTICLE Development of a rapid functional assay that predicts GLUT1 disease severity e297 ARTICLE Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation e289 ARTICLE Amyloid- and tau-PET Imaging in a familial prion kindred e290 Academy Officers Neurology® is a registered trademark of the American Academy of Neurology (registration valid in the United States). Ralph L. Sacco, MD, MS, FAAN, President Neurology® Genetics (eISSN 2376-7839) is an open access journal published James C. Stevens, MD, FAAN, President Elect online for the American Academy of Neurology, 201 Chicago Avenue, Ann H. 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Deputy Editor Massimo Pandolfo, MD, FAAN Mission Neurology: Genetics will provide neurologists Associate Editors with outstanding original contributions that Alexandra Durr, MD, PhD elucidate the role of genetic and epigenetic Margherita Milone, MD, PhD variation in diseases and biological traits of Raymond P. Roos, MD, FAAN the central and peripheral nervous systems. Jeffery M. Vance, MD, PhD Editorial Board Editorial Tel: 612-928-6400 Hilary Coon, PhD Giovanni Coppola, MD Inquiries Toll-free: 800-957-3182 (US) ChantalDepondt, MD, PhD Fax: 612-454-2748 Brent L. Fogel, MD, PhD, FAAN [email protected] AnthonyJ. Griswold, PhD Orhun H. Kantarci, MD Julie R. Korenberg, PhD, MD Stay facebook.com/NeurologyGenetics MargheritaMilone, MD, PhD Connected Davide Pareyson, MD twitter.com/greenjournal Shoji Tsuji, MD,PhD DinekeS. Verbeek,PhD youtube.com/user/NeurologyJournal David Viskochil, MD,PhD JulianeWinkelmann, MD Juan I. Young, PhD Neurology® Journals Editor-in-Chief Classification of Evidence Robert A. Gross, MD, PhD, FAAN Review Team Melissa J. Armstrong, MD Deputy Editor Richard L. Barbano, MD,PhD, FAAN Bradford B. Worrall, MD, MSc, FAAN RichardM.Dubinsky,MD,MPH,FAAN Jeffrey J. Fletcher, MD, MSc Section Editors Gary M. Franklin, MD, MPH, FAAN David S. Gloss II, MD,MPH&TM Biostatistics John J. Halperin, MD,FAAN Richard J. Kryscio, PhD Jason Lazarou, MSc, MD Christopher A. Beck, PhD Steven R. Mess´e, MD, FAAN Sue Leurgans, PhD Pushpa Narayanaswami, MBBS, DM, FAAN fi Classi cation of Evidence Evaluations Alex Rae-Grant, MD Gary S. Gronseth, MD, FAAN Podcasts Stacey L. Clardy, MD, PhD Jeffrey B. Ratliff, MD, Deputy Podcast Editor Ombudsman David S. Knopman, MD, FAAN Scientific Integrity Advisor Robert B. Daroff, MD, FAAN TABLE OF CONTENTS Volume 4, Number 6, December 2018 Neurology.org/NG e280 Molecular pathogenesis of human CD59 deficiency N. Karbian, Y. Eshed-Eisenbach, A. Tabib, H. Hoizman, B.P. Morgan, O. Schueler-Furman, E. Peles, and D. Mevorach Open Access e281 Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy N. Vegas, M. Cavallin, C. Maillard, N. Boddaert, J. Toulouse, E. Schaefer, T. Lerman-Sagie, D. Lev, B. Magalie, S. Moutton, E. Haan, B. Isidor, D. Heron, M. Milh, S. Rondeau, C. Michot, S. Valence, S. Wagner, M. Hully, C. Mignot, A. Masurel, A. Datta, S. Odent, M. Nizon, L. Lazaro, M. Vincent, B. Cogn´e, A.M. Guerrot, S. Arpin, J.M. Pedespan, I. Caubel, B. Pontier, B. Troude, F. Rivier, C. Philippe, T. Bienvenu, M.-A. Spitz, A. Bery, and N. Bahi-Buisson Open Access e282 Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype N.I. Montes-Chinea, Z. Guan, M. Coutts, C. Vidal, S. Courel, A.P.Rebelo,L.Abreu,S.Zuchner,J.T.Littleton,and M.A. Saporta Open Access e285 TPP2 mutation associated with sterile brain inflammation mimicking MS E.M. Reinthaler, E. Graf, T. Zrzavy, T. Wieland, C. Hotzy, C. Kopecky, S. Pferschy, C. Schmied, F. Leutmezer, M. Keilani, C.M. Lill, S. Hoffjan, J.T. Epplen, U.K. Zettl, M. Hecker, A. Deutschl¨ander, S.G. Meuth, M. Ahram, B. Mustafa, M. El-Khateeb, C. Vilariño-Guell,¨ A.D. Sadovnick, F. Zimprich, B. Tomkinson, T. Strom, W. Kristoferitsch, H. Lassmann, and A. Zimprich Open Access e286 Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease Editorial G.W. Beecham, B. Vardarajan, E. Blue, W. Bush, J. Jaworski, S. Barral, A. DeStefano, K. Hamilton-Nelson, B. Kunkle, E.R. Martin, A. Naj, ATXN2 F. Rajabli, C. Reitz, T. Thornton, C. van Duijn, A. Goate, S. Seshadri, e299 The complex structure of genetic variation L.A. Farrer, E. Boerwinkle, G. Schellenberg, J.L. Haines, E. Wijsman, S.M. Pulst R. Mayeux, and M.A. Pericak-Vance, for The Alzheimer’s Disease Sequencing Project Open Access Companion article, e283 Open Access Articles e289 Mutation in POLR3K causes hypomyelinating fl ff e278 Anti-in ammatory e ects of dietary vitamin D3 in leukodystrophy and abnormal ribosomal RNA patients with multiple sclerosis regulation R. Hashemi, M. Morshedi, M. Asghari Jafarabadi, D. Altafi, I. Dorboz, H. Dumay-Odelot, K. Boussaid, Y. Bouyacoub, P. Barreau, S. Saeed Hosseini-Asl, and S. Rafie-Arefhosseini S. Samaan, H. Jmel, E. Eymard-Pierre, C. Cances, C. Bar, A.-L. Poulat, C. Rousselle, F. Renaldo, M. Elmaleh- Berg`es, M. Teichmann, and Open Access O. Boespflug-Tanguy e279 Novel genotype-phenotype and MRI correlations in Open Access a large cohort of patients with SPG7 mutations e290 Amyloid- and tau-PET imaging in a familial prion C.A. Hewamadduma, N. Hoggard, R. O’Malley, M.K. Robinson, N.J. Beauchamp, R. Segamogaite, J. Martindale, T. Rodgers, G. Rao, kindred P. Sarrigiannis, P. Shanmugarajah, P. Zis, B. Sharrack, D.T. Jones, R.A. Townley, J. Graff-Radford, H. Botha, D.S. Knopman, C.J. McDermott, P.J. Shaw, and M. Hadjivassiliou R.C. Petersen, C.R. Jack, Jr., V.J. Lowe, and B.F. Boeve Open Access Open Access TABLE OF CONTENTS Volume 4, Number 6, December 2018 Neurology.org/NG e291 Copy number loss in SFMBT1 is common e298