Cerebral hypomyelination associated with biallelic variants of FIG4
TY Tan, J Ruddle, S Gibb, Guy Lenk, M Blyth, M Fanjul-Fernandez, Miriam Meisler, G Vadlamani, J Christodoulou, PJ Lockhart, S Sadedin, I Craven, IR Berry, V Rodriguez-Casero, A Vanderver, L Green, C Simons, O Skibina, SM White, CA Stutterd, D Warren, RJ Leventer, JH Livingston
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
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