A mutation in the GABAA receptor α1-subunit is associated with absence epilepsy

被引：154

作者：

Maljevic, Snezana

Krampfl, Maus

Cobilanschi, Joana

Tilgen, Nikola

Beyer, Susanne

Weber, Yvonne G.

Schlesinger, Friedrich

Ursu, Daniel

Melzer, Werner

Cossette, Patrick

Bufler, Johannes

Lerche, Holger

Heils, Armin

机构：

[1] Univ Ulm, Neurol Klin, Ulm, Germany

[2] Univ Ulm, Angew Physiol Abt, Ulm, Germany

[3] Hannover Med Sch, Neurol Klin, Hannover, Germany

[4] Univ Bonn, Klin Epileptol, D-5300 Bonn, Germany

[5] Univ Montreal, Dept Med, CHUM, Hop Notre Dame, Montreal, PQ H3C 3J7, Canada

[6] Univ Bonn, Inst Humangenet, D-5300 Bonn, Germany

来源：

ANNALS OF NEUROLOGY | 2006年 / 59卷 / 06期

关键词：

D O I：

10.1002/ana.20874

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective: To detect mutations in GABRA1 in idiopathic generalized epilepsy. Methods: GABRA1 was sequenced in 98 unrelated idiopathic generalized epilepsy patients. Patch clamping and con-focal imaging was performed in transfected mammalian cells. Results: We identified the first GABRA1 mutation in a patient with childhood absence epilepsy. Functional studies showed no detectable GABA-evoked currents for the mutant, truncated receptor, which was not integrated into the surface membrane. Interpretation: We conclude that this de novo mutation can contribute to the cause of "sporadic" childhood absence epilepsy by a loss of function and haploinsufficiency of the GABA(A) receptor alpha(1)-subunit, and that GABRA1 mutations rarely are associated with idiopathic generalized epilepsy.

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页码：983 / 987

页数：5

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