table of contents · e201 novel grn mutation presenting as an aphasic dementia and evolving into...
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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
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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
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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]
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Neurology: GeneticsNicholas Elwood Johnson, MDUniversity of UtahSalt Lake City, UTSpecialties: Muscle diseases, patient-centered outcomes
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Neurology.org/ng � Online ISSN: 2376-7839Volume 3, Number 6, December 2017
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