Generalized epilepsy with febrile seizures plus:: Mutation of the sodium channel subunit SCN1B

被引：119

作者：

Wallace, RH

Scheffer, IE

Parasivam, G

Barnett, S

Wallace, GB

Sutherland, GR

Berkovic, SF

Mulley, JC

机构：

[1] Womens & Childrens Hosp, Dept Cytogenet & Mol Genet, Ctr Med Genet, Adelaide, SA, Australia

[2] Univ Melbourne, Dept Med Neurol, Austin & Repatriat Med Ctr, Heidelberg, Vic, Australia

[3] Mater Med Ctr, Brisbane, Qld, Australia

[4] Univ Adelaide, Dept Paediat, Adelaide, SA 5005, Australia

[5] Univ Adelaide, Dept Genet, Adelaide, SA 5005, Australia

来源：

NEUROLOGY | 2002年 / 58卷 / 09期

关键词：

D O I：

10.1212/WNL.58.9.1426

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Generalized epilepsy with febrile seizures plus (GEFS(+)) is an important childhood genetic epilepsy syndrome with heterogeneous phenotypes, including febrile seizures (FS) and generalized epilepsies of variable severity. Forty unrelated GEFS(+) and FS patients were screened for mutations in the sodium channel beta-subunits SCN1B and SCN2B, and the second GEFS(+) family with an SCN1B mutation is described here. The family had 19 affected individuals: 16 with typical GEFS(+) phenotypes and three with other epilepsy phenotypes. Site-specific mutation within SCN1B remains a rare cause of GEFS(+), and the authors found no evidence to implicate SCN2B in this syndrome.

引用

页码：1426 / 1429

页数：4

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