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Table of ContentsNeurology.org/ng � Online ISSN: 2376-7839Volume 3, Number 6, December 2017
ARTICLES
e197 c.207C.G mutation in sepiapterin reductasecauses autosomal dominant dopa-responsivedystoniaA.S. Shalash, T.W. Rösler, S.H. Müller, M. Salama,G. Deuschl, U. Müller, T. Opladen, B.-S. Petersen,A. Franke, F. Hopfner, G. Kuhlenbäumer, andG.U. Höglinger
e198 Characterization of a KCNB1 variant associatedwith autism, intellectual disability, and epilepsyJ.D. Calhoun, C.G. Vanoye, F. Kok, A.L. George, Jr.,and J.A. Kearney
e206 Clinical features and outcome of 6 newpatients carrying de novo KCNB1 genemutationsC.Marini,M.Romoli, E. Parrini, C.Costa,D.Mei, F.Mari,L. Parmeggiani, E. Procopio, T. Metitieri, E. Cellini,S. Virdò, D. De Vita, M. Gentile, P. Prontera,P. Calabresi, and R. Guerrini
e200 CDKL5 variants: Improving our understanding ofa rare neurologic disorderR.D. Hector, V.M. Kalscheuer, F. Hennig,H. Leonard, J. Downs, A. Clarke, T.A. Benke,J. Armstrong, M. Pineda, M.E.S. Bailey, andS.R. Cobb
e203 Factors influencing the age at onset in familialfrontotemporal lobar dementia: Important weightof geneticsM. Barbier, A. Camuzat, M. Houot, F. Clot,P. Caroppo, C. Fournier, D. Rinaldi, F. Pasquier,D. Hannequin, J. Pariente, K. Larcher, The FrenchClinical and Genetic Research Network onFTD/FTD-ALS, Predict-PGRN & PrevDemAls StudyGroups, A. Brice, E. Génin, A. Sabbagh, andI. Le Ber
e207 NaV channel variants in patients with painful andnonpainful peripheral neuropathyS. Wadhawan, S. Pant, R. Golhar, S. Kirov,J. Thompson, L. Jacobsen, I. Qureshi, S. Ajroud-Driss,R. Freeman, D.M. Simpson, A.G. Smith, A. Hoke, andL.J. Bristow, On behalf of the Foundation forPeripheral Neuropathy and thePeripheral NeuropathyResearch Registry (PNRR) Consortium
e204 Copy number variation analysis increases thediagnostic yield in muscle diseasesS. Välipakka, M. Savarese, M. Johari, L. Sagath,M. Arumilli, K. Kiiski, A. Sáenz, A.L. de Munain,A.-M. Cobo, K. Pelin, B. Udd, and P. Hackman
e199 Germline and somatic mutations in STXBP1 withdiverse neurodevelopmental phenotypesM. Uddin, M. Woodbury-Smith, A. Chan, L. Brunga,S. Lamoureux, G. Pellecchia, R.K.C. Yuen, M. Faheem,D.J. Stavropoulos, J. Drake, C.D. Hahn, C. Hawkins,A. Shlien, C.R. Marshall, L.A. Turner, B.A. Minassian,S.W. Scherer, and C. Boelman
e208 Clinical heterogeneity and phenotype/genotypefindings in 5 families with GYG1 deficiencyR. Ben Yaou, A. Hubert, I. Nelson, J.R. Dahlqvist,D. Gaist, N. Streichenberger, M. Beuvin, M. Krahn,P. Petiot, F. Parisot, F. Michel, E. Malfatti, N. Romero,R.Y. Carlier, B. Eymard, P. Labrune, M. Duno, T. Krag,M. Cerino, M. Bartoli, G. Bonne, J. Vissing,P. Laforet, and F.M. Petit
CLINICAL/SCIENTIFIC NOTES
e205 Novel NDUFS4 gene mutation in an atypicallate-onset mitochondrial form of multifocaldystoniaC. Bris, T. Rouaud, V. Desquiret-Dumas, N. Gueguen,D. Goudenege, M. Barth, D. Bonneau,P. Amati-Bonneau, G. Lenaers, P. Reynier,A.-S. Lebre, and V. Procaccio
e201 Novel GRN mutation presenting as an aphasicdementia and evolving into corticobasal syndromeH. Botha, N.C.A. Finch, R.H. Gavrilova,M.M.Machulda,J.A. Fields, V.J. Lowe, R.C. Petersen, C.R. Jack, Jr.,C.M. Dheel, D.J. Gearhart, D.S. Knopman,R. Rademakers, and B.F. Boeve
e202 Opening one’s eyes to mosaicism in progressiveexternal ophthalmoplegiaE.W. Sommerville, R.L. Jones, S.A. Hardy,E.L. Blakely, A. Pyle, A.M. Schaefer,P.F. Chinnery, D.M. Turnbull, G.S. Gorman, andR.W. Taylor
Podcast Video LOE classification LOE recommendation
tinyurl.com/NeurologyNG twitter.com/GreenJournal
Cover image: Location of the KCNB1-I199F variant mapped onto the crystal structure ofa KV2.1/KV1.2 chimera (PDB 29R9). Stylized by Kaitlyn Aman Ramm, Neurology EditorialAssistant. See “Characterization of a KCNB1 variant associated with autism, intellectualdisability and epilepsy.”
Table of Contentscontinued
Neurology.org/ng � Online ISSN: 2376-7839Volume 3, Number 6, December 2017
VISION: Neurology® Genetics will be the premier peer-reviewedjournal in the field of neurogenetics.
MISSION: Neurology: Genetics will provide neurologists withoutstanding original contributions that elucidate the role ofgenetic and epigenetic variations in diseases and biological traitsof the central and peripheral nervous systems.
EditorNeurology: GeneticsStefan M. Pulst, MD, Dr med, FAANProfessor and Chair, Department of NeurologyUniversity of UtahSalt Lake City, [email protected]: Genetics, movement disorders
Editor-in-ChiefNeurology®Robert A. Gross, MD, PhD, FAANProfessor of Neurology and of Pharmacology and PhysiologyStrong Epilepsy CenterUniversity of Rochester Medical CenterRochester, [email protected]
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Academy OfficersRalph L. Sacco, MD, MS, FAAN, PresidentJames C. Stevens, MD, FAAN, President ElectAnn H. Tilton, MD, FAAN, Vice PresidentCarlayne E. Jackson, MD, FAAN, SecretaryJanis M. Miyasaki, MD, MEd, FRCPC, FAAN, TreasurerTerrence L. Cascino, MD, FAAN, Past President
Executive Office, American Academy of NeurologyCatherine M. Rydell, CAE, Executive Director/CEO201 Chicago AveMinneapolis, MN 55415Tel: 612-928-6100
Editorial OfficePatricia K. Baskin, MS, Executive EditorKathleen M. Pieper, Senior Managing Editor, NeurologyLee Ann Kleffman, Managing Editor, Neurology: GeneticsSharon L. Quimby, Managing Editor, Neurology® Clinical PracticeMorgan S. Sorenson, Managing Editor, Neurology® Neuroimmunology &
NeuroinflammationCynthia S. Abair, MA, Senior Graphics EditorAndrea R. Rahkola, Production Editor, NeurologyRobert J. Witherow, Senior Editorial AssociateKaren Skaja, Senior Editorial AssociateKaitlyn Aman Ramm, Editorial AssistantKristen Swendsrud, Editorial AssistantAndrea Willgohs, Editorial Assistant
PublisherWolters KluwerBaltimore, MD
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Neurology.org/ng � Online ISSN: 2376-7839Volume 3, Number 6, December 2017
EditorNeurology® GeneticsStefan M. Pulst, MD, Dr med, FAANProfessor and Chair, Department of NeurologyUniversity of UtahSalt Lake City, [email protected]: Genetics, movement disorders
Editor-in-ChiefNeurology®Robert A. Gross, MD, PhD, FAANProfessor of Neurology and of Pharmacology and PhysiologyStrong Epilepsy CenterUniversity of Rochester Medical CenterRochester, [email protected]
Deputy EditorsNeurologyBradford B. Worrall, MD, MSc, FAANProfessor of Neurology and Public Health SciencesUniversity of VirginiaCharlottesville, VA
Neurology: GeneticsNicholas Elwood Johnson, MDUniversity of UtahSalt Lake City, UTSpecialties: Muscle diseases, patient-centered outcomes
Associate EditorsNeurology: GeneticsAlexandra Durr, MD, PhDHôpital de la SalpêtrièreParis, FranceSpecialties: Spastic paraplegia, Huntington disease, ataxia
Massimo Pandolfo, MD, FAANHôpital ErasmeUniversité Libre de BruxellesBrussels, BelgiumSpecialties: Epilepsy, Friedreich ataxia, stem cells
Raymond P. Roos, MD, FAANUniversity of Chicago Medical CenterChicago, ILSpecialties: Motor neuron disease, prion disease, neurovirology/neuroimmunology
Jeffery M. Vance, MD, PhDUniversity of MiamiMiami, FLSpecialties: Parkinson, Alzheimer disease, inherited neuropathies
BiostatisticsRichard J. Kryscio, PhDUniversity of KentuckyLexington, KY
Christopher A. Beck, PhDUniversity of RochesterRochester, NY
Sue Leurgans, PhDRush University Medical CenterChicago, IL
Level of Evidence EvaluationsGary S. Gronseth, MD, FAANUniversity of KansasKansas City, KS
PodcastsAndrew M. Southerland, MD, MScUniversity of VirginiaCharlottesville, VA
Ted M. Burns, MD, Deputy Podcast EditorUniversity of VirginiaCharlottesville, VA
OmbudsmanDavid S. Knopman, MD, FAANMayo ClinicRochester, MN
Scientific Integrity AdvisorRobert B. Daroff, MD, FAANCase Western Reserve UniversityCleveland, OH
Editorial BoardHilary Coon, PhD, University of Utah, Salt Lake City, UTGiovanni Coppola, MD, UCLA, Los Angeles, CAChantal Depondt, MD, PhD, Université Libre de Bruxelles, Brussels, BelgiumBrent L. Fogel, MD, PhD, FAAN, UCLA, Los Angeles, CAAnthony J. Griswold, PhD, University of Miami, Miami, FLOrhun H. Kantarci, MD, Mayo Clinic, Rochester, MNJulie R. Korenberg, PhD, MD, University of Utah, Salt Lake City, UTMargherita Milone, MD, PhD, Mayo Clinic, Rochester, MNDavide Pareyson, MD, C. Besta Neurological Institute IRCCS Foundation,Milan, Italy
Shoji Tsuji, MD, PhD, University of Tokyo Graduate School of Medicine,Tokyo, Japan
Dineke S. Verbeek, PhD, University Medical Center Groningen, Groningen,The Netherlands
David Viskochil, MD, PhD, University of Utah, Salt Lake City, UTJuliane Winkelmann, MD, Technische Universität München, HelmholtzZentrum Münche, Munich, Germany
Juan I. Young, PhD, University of Miami, Miami, FL
Level of Evidence Review TeamMelissa J. Armstrong, MD, Gainesville, FLRichard L. Barbano, MD, PhD, FAAN, Rochester, NYRichard M. Dubinsky, MD, MPH, FAAN, Kansas City, KSJeffrey J. Fletcher, MD, MSc, Ann Arbor, MIGary M. Franklin, MD, MPH, FAAN, Seattle, WADavid S. Gloss II, MD, MPH&TM, Charleston, WVJohn J. Halperin, MD, FAAN, Summit, NJJason Lazarou, MSc, MD, Toronto, Ontario, CanadaSteven R. Messé, MD, FAAN, Philadelphia, PAPushpa Narayanaswami, MBBS, DM, FAAN, Boston, MAAlex Rae-Grant, MD, Cleveland, OH
Neurology.org/ng � Online ISSN: 2376-7839Volume 3, Number 6, December 2017
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