title: Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.
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.
authors.affiliation: Laboratory for Neurogenetics, Brain Science Institute, RIKEN, Wako, Saitama, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Sugawara
authors.forename: E
authors.initials: E
authors.lastname: Mazaki-Miyazaki
authors.forename: M
authors.initials: M
authors.lastname: Ito
authors.forename: H
authors.initials: H
authors.lastname: Nagafuji
authors.forename: G
authors.initials: G
authors.lastname: Fukuma
authors.forename: A
authors.initials: A
authors.lastname: Mitsudome
authors.forename: K
authors.initials: K
authors.lastname: Wada
authors.forename: S
authors.initials: S
authors.lastname: Kaneko
authors.forename: S
authors.initials: S
authors.lastname: Hirose
authors.forename: K
authors.initials: K
authors.lastname: Yamakawa
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002648:Child; D004828:Epilepsies, Partial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D003294:Seizures, Febrile / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels