Biallelic inherited SCN8A variants, a rare cause of SCN8A ‐related developmental and epileptic encephalopathy
Abstract
Objective Monoallelic de novo gain-of-function variants in the voltage-gated sodium channel SCN8A are one of the recurrent causes of severe developmental and epileptic encephalopathy (DEE). In addition, a small number of de novo or inherited monoallelic loss-of-function variants have been found in patients with intellectual disability, autism spectrum disorder, or movement disorders. Inherited monoallelic variants causing either gain or...
Paper Details
Title
Biallelic inherited SCN8A variants, a rare cause of SCN8A ‐related developmental and epileptic encephalopathy
Published Date
Oct 17, 2019
Journal
Volume
60
Issue
11
Pages
2277 - 2285
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