Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.
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.
Sugawara
T
T
Laboratory for Neurogenetics, Brain Science Institute, RIKEN, Wako, Saitama, Japan.
Mazaki-Miyazaki
E
E
Ito
M
M
Nagafuji
H
H
Fukuma
G
G
Mitsudome
A
A
Wada
K
K
Kaneko
S
S
Hirose
S
S
Yamakawa
K
K
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*
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels