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

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.

Jaar van publicatie:2016

BOF-keylabel:ja

IOF-keylabel:ja

BOF-publication weight:10

CSS-citation score:2

Auteurs:International

Authors from:Higher Education

Toegankelijkheid:Closed