A novel GABRG2 mutation associated with febrile seizures

被引：142

作者：

Audenaert, D.

Schwartz, E.

Claeys, K. G.

Claes, L.

Deprez, L.

Suls, A.

Van Dyck, T.

Lagae, L.

Van Broeckhoven, C.

Macdonald, R. L.

De Jonghe, P.

机构：

[1] Univ Antwerp VIB, Dept Mol Genet, Neurogenet Grp, B-2610 Antwerp, Belgium

[2] Vanderbilt Univ, Med Ctr, Grad Program Neurosci, Nashville, TN USA

[3] Vanderbilt Univ, Med Ctr, Dept Neurol, Nashville, TN USA

[4] Univ Antwerp Hosp, Div Neurol, Antwerp, Belgium

[5] Univ Hosp Gasthuisberg, Div Child Neurol, B-3000 Louvain, Belgium

来源：

NEUROLOGY | 2006年 / 67卷 / 04期

关键词：

D O I：

10.1212/01.wnl.0000230145.73496.a2

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the gene encoding the gamma 2 subunit of the gamma-aminobutyric acid type A receptor (GABRG2) have been reported to cause childhood absence epilepsy (CAE), febrile seizures (FS), and generalized epilepsy with FS plus (GEFS+). The authors analyzed GABRG2 in 47 unrelated patients with CAE, FS, and GEFS+ and identified a novel mutation that cosegregated with FS. Electrophysiologic studies demonstrated altered current desensitization and reduced benzodiazepine enhancement in mutant receptors.

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收藏

页码：687 / 690

页数：4

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