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Plasticity-Related Gene 3 (LPPR1) and Age at Diagnosis of Parkinson Disease E271 Volume 4, Number 5, October 2018 Neurology.org/NG A peer-reviewed clinical and translational neurology open access journal ARTICLE Plasticity-related gene 3 (LPPR1) and age at diagnosis of Parkinson disease e271 ARTICLE Increased KCNJ18 promoter activity as a mechanism in atypical normokalemic periodic paralysis e274 ARTICLE Protein network analysis reveals selectively vulnerable regions and biological processes in FTD e266 ARTICLE Bioenergetics in fi broblasts of Huntington disease patients are associated with age of onset e275 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. Tilton, MD, FAAN, Vice President Minneapolis, MN 55415, by Wolters Kluwer Health, Inc. at 14700 Citicorp Drive, Bldg. 3, Hagerstown, MD 21742. Business offices are located at Two Carlayne E. Jackson, MD, FAAN, Secretary Commerce Square, 2001 Market Street, Philadelphia, PA 19103. Production offices are located at 351 West Camden Street, Baltimore, MD 21201-2436. Janis M. Miyasaki, MD, MEd, FRCPC, FAAN, Treasurer © 2018 American Academy of Neurology. Terrence L. Cascino, MD, FAAN, Past President Neurology® Genetics is an official journal of the American Academy of Neurology. Journal website: Neurology.org/ng, AAN website: AAN.com Executive Office, American Academy of Neurology Copyright and Permission Information: Please go to the journal website (www.neurology.org/ng) and click the Permissions tab for the relevant Catherine M. Rydell, CAE, Executive Director/CEO article. 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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 5, October 2018 Neurology.org/NG e274 Increased KCNJ18 promoter activity as a mechanism in atypical normokalemic periodic paralysis M. Soufi, V. Ruppert, S. Rinn´e, T. Mueller, B. Kurt, G. Pilz, A. Maieron, R. Dodel, N. Decher, and J.R. Schaefer Open Access e275 Bioenergetics in fibroblasts of patients with Huntington disease is associated with age at onset S.L. Gardiner, C. Milanese, M.W. Boogaard, R.A.M. Buijsen, M. Hogenboom, R.A.C. Roos, P.G. Mastroberardino, W.M.C. van Roon-Mom, and N.A. Aziz Open Access e276 Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction R.G. Lee, M. Sedghi, M. Salari, A.-M.J. Shearwood, M. Stentenbach, A. Kariminejad, H. Goullee, O. Rackham, N.G. Laing, H. Tajsharghi, and A. Filipovska Open Access Clinical/Scientific Notes e267 Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression C.K. Sloth, F. Denti, N. Schmitt, B.H. Bentzen, C. Fagerberg, J. Vissing, and D. Gaist Open Access e268 MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles A. Chaussenot, C. Rouzier, K. Fragaki, S. Sacconi, S. Ait-El-Mkadem, V. Paquis-Flucklinger, and S. Bannwarth Articles Open Access e265 Genetic landscape of pediatric movement disorders e269 Deoxyguanosine kinase mutation producing and management implications juvenile-onset mitochondrial myopathy D. Cordeiro, G. Bullivant, K. Siriwardena, A. Evans, J. Kobayashi, F.N.U. Komal, P.M. Moretti, and A.I. Shaibani R.D. Cohn, and S. Mercimek-Andrews Open Access Open Access e270 CADASIL affecting a black African man e266 Protein network analysis reveals selectively vulnerable L. Vlok and N. Brey regions and biological processes in FTD Open Access L.W. Bonham, N.Z.R. Steele, C.M. Karch, C. Manzoni, E.G. Geier, N. Wen, A. Ofori-Kuragu, P. Momeni, J. Hardy, Z.A. Miller, C.P. Hess, e272 DRESS after IV phenytoin associated with P. Lewis, B.L. Miller, W.W. Seeley, S.E. Baranzini, R.S. Desikan, R. Ferrari, and J.S. Yokoyama, on behalf of the International cytochrome P450 CYP2C9*3 homozygosity FTD-Genomics Consortium (IFGC) M.S. Nissen and C.P. Beier Open Access Open Access e271 Plasticity-related gene 3 (LPPR1) and age at diagnosis e273 AP4S1 splice-site mutation in a case of spastic of Parkinson disease paraplegia type 52 with polymicrogyria Z.D. Wallen, H. Chen, E.M. Hill-Burns, S.A. Factor, C.P. Zabetian, and S. Carmona, C. Marecos, M. Amorim, A.C. Ferreira, C. Conceição, H. Payami J. Br´as, S.T. Duarte, and R. Guerreiro Open Access Open Access TABLE OF CONTENTS Volume 4, Number 5, October 2018 Neurology.org/NG Correction e277 Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23) Cover image Universal lymphadenopathy visualized by PET-CT in a patient with CYP2C9*3 homozygosity who developed DRESS after intravenous administered phenytoin. Stylized by Kaitlyn Aman Ramm, Neurology Editorial Assistant. See e272 ARTICLE OPEN ACCESS Genetic landscape of pediatric movement disorders and management implications Dawn Cordeiro, BN, RN, Garrett Bullivant, BA, Komudi Siriwardena, MD, Andrea Evans, MD, MSc, Correspondence Jeff Kobayashi,
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