Cerebral hypomyelination associated with biallelic variants of FIG4
Guy Lenk, Ian R Berry, Chloe A Stutterd, Moira Blyth, Lydia Green, Gayatri Vadlamani, Daniel Warren, Ian Craven, Miriam Fanjul‐Fernandez, Victoria Rodriguez‐Casero, Paul J Lockhart, Adeline Vanderver, Cas Simons, Susan Gibb, Simon Sadedin, Broad Center for Mendelian Genomics, Susan M White, John Christodoulou, Olga Skibina, Jonathan Ruddle, Tiong Y Tan, Richard J Leventer, John H Livingston, Miriam Meisler
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
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De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy
SF Berkovic, B Grinton, T Dixon-Salazar, BL Laughlin, L Lubbers, J Milder, DB Goldstein, EL Heinzen, L Bier, ME Ernst, NC Lippa, . Mulhern, TM Afgani, V Aggarwal, N Stong, DH Lowenstein, S Cornes, K Johnson, R Stewart, V Whittemore, K Angione, S Demarest, M Gibbons, C Joshi, K Park, CW Bazil, H Choi, J Bluvstein, O Devinsky, P Dugan, P Tolete, E Brimble, C Campbell, C Chambers, H Goodkin, L Jansen, . Cilio, A Numis, N Singhal, J Sullivan, M Ciliberto, N Delanty, N Delanty, D Dlugos, H Dubbs, I Helbig, E Marsh, A Martinez, W Gallentine, MA Makati, J Millichap, Y Moskovich, J Millichap, A Poduri, B Sheidley, L Smith, A Taylor, B Porter, TT Sands, JJ Riviello, IE Scheffer, AS Allen, R Hamid, KL Helbig, S Tang, Miriam Meisler, S Petrovski, J Pfotenhauer
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