FHF1 (FGF12) epileptic encephalopathy.

ABSTRACT: Voltage-gated sodium channels (Na_vs) are mainstays of neuronal function, and mutations in the genes encoding CNS Na_vs (Na_v1.1 [SCN1A], Na_v1.2 [SCN2A], Na_v1.3 [SCN3A], and Na_v1.6 [SCN8A]) are causes of some of the most common and severe genetic epilepsies and epileptic encephalopathies (EE).¹ Fibroblast-growth-factor homologous factors (FHFs) compose a family of 4 proteins that interact with the C-terminal tails of Na_vs to modulate the channels' fast, and long-term, inactivations.²FHF2 mutation is a rare cause of generalized epilepsy with febrile seizures plus (GEFS+).³ Recently, a de novo FHF1 mutation (p.R52H) was reported in early-onset E

SUBMITTER: Al-Mehmadi S 

PROVIDER: S-EPMC5087254 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature