Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans.
The voltage-gated sodium channel type II alpha polypeptide gene (SCN2A) R188W mutation with channel dysfunction was recently identified in a patient with febrile and afebrile seizures. A possible association between SCN2A R19K polymorphism and febrile seizures (FS) associated with afebrile seizures including generalized epilepsy with febrile seizures plus (GEFS+) was also noted. We attempted to identify the R188W mutation and confirm association of the R19K polymorphism in 93 Japanese patients with FS, 35 Japanese patients with FS associated with afebrile seizures including GEFS+, and 100 control subjects. The R188W mutation was not found. There were no significant differences in genotype or allele frequencies of the R19K polymorphism between groups. Our study failed to provide evidence supporting a causal relation between the SCN2A mutation/polymorphism and FS or FS associated with afebrile seizures including GEFS+ in the Japanese population.
Nakayama
Junko
J
Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki-ken 305-8575, Japan.
Yamamoto
Nao
N
Hamano
Kenzo
K
Iwasaki
Nobuaki
N
Ohta
Masayasu
M
Nakahara
Satoko
S
Horigome
Yumi
Y
Nakahara
Chieko
C
Noguchi
Emiko
E
Shiono
Junko
J
Shimakura
Yae
Y
Yamakawa-Kobayashi
Kimiko
K
Matsui
Akira
A
Arinami
Tadao
T
D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D003294:Seizures, Febrile / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568251:SCN2A protein, human; D015222:Sodium Channels