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Genetic Background of Ataxia in Children Younger Than 5 Years in Finland E444 Volume 6, Number 4, August 2020 Neurology.org/NG A peer-reviewed clinical and translational neurology open access journal ARTICLE Genetic background of ataxia in children younger than 5 years in Finland e444 ARTICLE Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene e448 ARTICLE Somatic SLC35A2 mosaicism correlates with clinical fi ndings in epilepsy brain tissuee460 ARTICLE Synonymous variants associated with Alzheimer disease in multiplex families e450 Academy Officers Neurology® is a registered trademark of the American Academy of Neurology (registration valid in the United States). James C. Stevens, MD, FAAN, President Neurology® Genetics (eISSN 2376-7839) is an open access journal published Orly Avitzur, MD, MBA, FAAN, President Elect online for the American Academy of Neurology, 201 Chicago Avenue, Ann H. 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Ratliff, MD, Deputy Podcast Editor Ombudsman Jonathan W. Mink, MD, PhD, FAAN Scientific Integrity Advisor David S. Knopman, MD, FAAN Copyright ª 2020 American Academy of Neurology. Unauthorized reproduction of this article is prohibited. TABLE OF CONTENTS Volume 6, Number 4, August, 2020 Neurology.org/NG Editorial e464 COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation e490 What does a defect in N-glycosylation mean for C. Hedberg-Oldfors, N. Darin, C. Thomsen, C. Lindberg, and neuronal migration and function? A. Oldfors A.M. Goldman Open Access Open Access e468 Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1 Articles S. Szelinger, J. Krate, K. Ramsey, S.P. Strom, P.B. Shieh, H. Lee, N. Belnap, C. Balak, A.L. Siniard, M. Russell, R. Richholt, M.D. Both, e444 Genetic background of ataxia in children younger than A.M. Claasen, I. Schrauwen, S.F. Nelson, M.J. Huentelman, 5 years in Finland D.W. Craig, S.P. Yang, S.A. Moore, K. Sivakumar, V. Narayanan, and E. Ignatius, P. Isohanni, M. Pohjanpelto, P. Lahermo, S. Ojanen, S. Rangasamy, on behalf of UCLA Clinical Genomics Center V. Brilhante, E. Palin, A. Suomalainen, T. Lonnqvist,¨ and C.J. Carroll Open Access Open Access e470 Disease-modifying effects of an SCAF4 structural e446 Brainstem ischemic syndrome in juvenile NF2 variant in a predominantly SOD1 ALS cohort J.W. Henson, T. Benkers, and C. McCormick J. Pytte, L.L. Flynn, R.S. Anderton, F.L. Mastaglia, F. Theunissen, Open Access I. James, A. Pfaff, S. Koks, A.M. Saunders, R. Bedlack, D.K. Burns, M.W. Lutz, N. Siddique, T. Siddique, A.D. Roses, and P.A. Akkari e448 Cerebral arteriopathy associated with Open Access heterozygous variants in the casitas B-lineage e478 SLC12A2 mutations cause NKCC1 deficiency with lymphoma gene encephalopathy and impaired secretory epithelia Y. Hong, A. Keylock, B. Jensen, T.S. Jacques, O. Ogunbiyi, ¨ E. Omoyinmi, D. Saunders, A.A. Mallick, M. Tooley, T. Stodberg, M. Magnusson, N. Lesko, A. Wredenberg, R. Newbury-Ecob, J. Rankin, H.J. Williams, V. Ganesan, D. Martin Munoz, H. Stranneheim, and A. Wedell P.A. Brogan, and D. Eleftheriou Open Access Open Access e482 Hydrocephalus and diffuse choroid plexus hyperplasia e450 Synonymous variants associated with Alzheimer in primary ciliary dyskinesia-related MCIDAS disease in multiplex families mutation M. Tang, M.E. Alaniz, D. Felsky, B. Vardarajan, D. Reyes-Dumeyer, E.A. Robson, L. Dixon, L. Causon, W. Dawes, M. Benenati, M. Fassad, R. Lantigua, M. Medrano, D.A. Bennett, P.L. de Jager, R. Mayeux, R.A. Hirst, P. Kenia, E.F. Moya, M. Patel, D. Peckham, A. Rutman, I. Santa-Maria, and C. Reitz H.M. Mitchison, K. Mankad, and C. O’Callaghan Open Access Open Access Pro e456 Expanded genetic insight and clinical experience of e480 Homoplasmic mitochondrial tRNA mutation DNMT1-complex disorder causing exercise-induced muscle swelling H. Bi, K. Hojo, M. Watanabe, C. Yee, K. Maski, S. Saba, and fatigue J. Graff-Radford, M.M. Machulda, E.K. St Louis,
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