Referenced in: none

Automatically associated channels: Nav1.1

Title: Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.

Authors: T Sugawara, E Mazaki-Miyazaki, M Ito, H Nagafuji, G Fukuma, A Mitsudome, K Wada, S Kaneko, S Hirose, K Yamakawa

Journal, date & volume: Neurology, 2001 Aug 28 , 57, 703-5

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/11524484

Abstract
Recent evidence has suggested that the neuronal voltage-gated sodium channel alpha(1)-subunit gene (Na(v)1.1: SCN1A) is responsible for generalized epilepsy with febrile seizures plus (GEFS+2). Here the authors report two novel disease mutations of Na(v)1.1 in patients with febrile seizures associated with afebrile partial seizures. One is a Val1428Ala substitution in the pore-forming region, and the other is Ala1685Val in the transmembrane helix. These results support the previous findings and contribute to the reliable diagnosis of epilepsy.