Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

OBJECTIVE:Voltage-gated sodium channel (Nav)–encoding genes are among early-onset epileptic encephalopathies (EOEE) targets, suggesting that other genes encoding Nav–binding proteins, such as fibroblast growth factor homologous factors (FHFs), may also play roles in these disorders. METHODS:To ident...

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Veröffentlicht in:	Neurology 2016-06, Vol.86 (23), p.2162-2170
Hauptverfasser:	Siekierska, Aleksandra, Isrie, Mala, Liu, Yue, Scheldeman, Chloë, Vanthillo, Niels, Lagae, Lieven, de Witte, Peter A.M, Van Esch, Hilde, Goldfarb, Mitchell, Buyse, Gunnar M
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Animals Animals, Genetically Modified Atrophy Brain - diagnostic imaging Brain - physiopathology Cell Line, Tumor Cerebellar Diseases - diagnostic imaging Cerebellar Diseases - genetics Child Child, Preschool Danio rerio Epilepsy - diagnostic imaging Epilepsy - genetics Epilepsy - physiopathology Fatal Outcome Female Fibroblast Growth Factors - genetics Fibroblast Growth Factors - metabolism Humans Male Mice Mutation NAV1.6 Voltage-Gated Sodium Channel - genetics NAV1.6 Voltage-Gated Sodium Channel - metabolism Siblings Zebrafish
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