Article
SCN1A mutations and epilepsy.
Human mutation - 1 Jun 2005
Mulley John C, Scheffer Ingrid E, Petrou Steven, Dibbens Leanne M, Berkovic Samuel F, Harkin Louise A
Abstract excerpt
SCN1A is part of the SCN1A-SCN2A-SCN3A gene cluster on chromosome 2q24 that encodes for alpha pore forming subunits of sodium channels. The 26 exons of SCN1A are spread over 100 kb of genomic DNA. Genetic defects in the coding sequence lead to generalized epilepsy with febrile seizures plus (GEFS+) and a range of childhood epileptic encephalopathies of varied severity (e.g., SMEI). All published mutations are...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.