A mutation in the GABAA receptor α1-subunit is associated with absence epilepsy
A mutation in the GABAA receptor α1-subunit is associated with absence epilepsy
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DOI：
10.1002/ana.20874
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发表时间：
2006-06-01
影响因子：
11.2
通讯作者：
Heils, Armin
中科院分区：
文献类型：
--
作者：
Maljevic, Snezana;Krampfl, Maus;Heils, Armin
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.
