Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures
T Sugawara, E Mazaki–Miyazaki, M Ito, H Nagafuji… - Neurology, 2001 - AAN Enterprises
T Sugawara, E Mazaki–Miyazaki, M Ito, H Nagafuji, G Fukuma, A Mitsudome, K Wada…
Neurology, 2001•AAN EnterprisesRecent evidence has suggested that the neuronal voltage-gated sodium channel α1-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.
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.
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.
American Academy of Neurology