Na v 1.1 mutations cause febrile seizures associated with afebrile partial seizures
- 28 August 2001
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 57 (4) , 703-705
- https://doi.org/10.1212/wnl.57.4.703
Abstract
Recent evidence has suggested that the neuronal voltage-gated sodium channel α1-subunit gene (Nav1.1: SCN1A) is responsible for generalized epilepsy with febrile seizures plus (GEFS+2). Here the authors report two novel disease mutations of Nav1.1 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.Keywords
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