title: Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki-ken 305-8575, Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Nakayama
authors.forename: Nao
authors.initials: N
authors.lastname: Yamamoto
authors.forename: Kenzo
authors.initials: K
authors.lastname: Hamano
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Iwasaki
authors.forename: Masayasu
authors.initials: M
authors.lastname: Ohta
authors.forename: Satoko
authors.initials: S
authors.lastname: Nakahara
authors.forename: Yumi
authors.initials: Y
authors.lastname: Horigome
authors.forename: Chieko
authors.initials: C
authors.lastname: Nakahara
authors.forename: Emiko
authors.initials: E
authors.lastname: Noguchi
authors.forename: Junko
authors.initials: J
authors.lastname: Shiono
authors.forename: Yae
authors.initials: Y
authors.lastname: Shimakura
authors.forename: Kimiko
authors.initials: K
authors.lastname: Yamakawa-Kobayashi
authors.forename: Akira
authors.initials: A
authors.lastname: Matsui
authors.forename: Tadao
authors.initials: T
authors.lastname: Arinami
mesh_terms: 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*
chemical_list: D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568251:SCN2A protein, human; D015222:Sodium Channels