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Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures
T Sugawara1, E Mazaki-Miyazaki, M Ito
1Laboratory for Neurogenetics, Brain Science Institute, RIKEN, Wako, Saitama, Japan.
Neurology
|August 29, 2001
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.