Article
Early onset epilepsy and sudden unexpected death in epilepsy with cardiac arrhythmia in mice carrying the early infantile epileptic encephalopathy 47 gain-of-function FHF1(FGF12) missense mutation.
Epilepsia - 1 Jul 2021
Velíšková Jana, Marra Christopher, Liu Yue, Shekhar Akshay, Park David S, Iatckova Vasilisa, Xie Ying, Fishman Glenn I, Velíšek Libor, Goldfarb Mitchell
Abstract excerpt
OBJECTIVE: Fibroblast growth factor homologous factors (FHFs) are brain and cardiac sodium channel-binding proteins that modulate channel density and inactivation gating. A recurrent de novo gain-of-function missense mutation in the FHF1(FGF12) gene (p.Arg52His) is associated with early infantile epileptic encephalopathy 47 (EIEE47; Online Mendelian Inheritance in Man database 617166). To determine whether the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.