GABAA receptor epilepsy mutations
GABAA receptor epilepsy mutations
复制标题
DOI：
10.1016/j.bcp.2004.07.029
复制
发表时间：
2004-10-15
影响因子：
5.8
通讯作者：
Kang, JQ
中科院分区：
文献类型：
--
作者：
Macdonald, RL;Gallagher, MJ;Kang, JQ
Idiopathic generalized epilepsy (IGE) syndromes are diseases that are characterized by absence, myoclonic, and/or primary generalized tonic-clonic seizures in the absence of structural brain abnormalities. Although it was long hypothesized that IGE had a genetic basis, only recently have causative genes been identified. Here we review mutations in the GABA(A) receptor alpha1, gamma2, and delta subunits that have been associated with different IGE syndromes. These mutations affect GABA(A) receptor gating, expression, and/or trafficking of the receptor to the cell surface, all pathophysiological mechanisms that result in neuronal disinhibition and thus predispose affected patients to seizures. (C) 2004 Elsevier Inc. All rights reserved.
