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Pubmed ID :27164707
Publication Date : //

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.

Authors : 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 ,

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