Naυ1.1 mutations cause febrile seizures associated with afebrile partial seizures

被引：132

作者：

Sugawara, T

Mazaki-Miyazaki, E

Ito, M

Nagafuji, H

Fukuma, G

Mitsudome, A

Wada, K

Kaneko, S

Hirose, S

Yamakawa, K

机构：

[1] RIKEN, Neurogenet Lab, Brain Sci Inst, Inst Phys & Chem Res, Wako, Saitama 3510198, Japan

[2] Kitano Hosp, Dept Pediat, Osaka, Japan

[3] Shiga Med Ctr Children, Dept Pediat, Moriyama, Japan

[4] Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan

[5] Hirosaki Univ, Sch Med, Dept Neuropsychiat, Hirosaki, Aomori, Japan

来源：

NEUROLOGY | 2001年 / 57卷 / 04期

关键词：

D O I：

10.1212/WNL.57.4.703

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：703 / 705

页数：3

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