Ontology highlight
ABSTRACT:
SUBMITTER: Al-Mehmadi S
PROVIDER: S-EPMC5087254 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
Al-Mehmadi Sameer S Splitt Miranda M Ramesh Venkateswaran V DeBrosse Suzanne S Dessoffy Kimberly K Xia Fan F Yang Yaping Y Rosenfeld Jill A JA Cossette Patrick P Michaud Jacques L JL Hamdan Fadi F FF Campeau Philippe M PM Minassian Berge A BA
Neurology. Genetics 20161028 6
Voltage-gated sodium channels (Na<sub>v</sub>s) are mainstays of neuronal function, and mutations in the genes encoding CNS Na<sub>v</sub>s (Na<sub>v</sub>1.1 [<i>SCN1A</i>], Na<sub>v</sub>1.2 [<i>SCN2A</i>], Na<sub>v</sub>1.3 [<i>SCN3A</i>], and Na<sub>v</sub>1.6 [<i>SCN8A</i>]) are causes of some of the most common and severe genetic epilepsies and epileptic encephalopathies (EE).<sup>1</sup> Fibroblast-growth-factor homologous factors (FHFs) compose a family of 4 proteins that interact with t ...[more]