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GABAA receptor epilepsy mutations

2004; Elsevier BV; Volume: 68; Issue: 8 Linguagem: Inglês

10.1016/j.bcp.2004.07.029

1873-2968

Robert L. Macdonald, Martin J. Gallagher, Huajun Feng, Jing‐Qiong Kang,

Nicotinic Acetylcholine Receptors Study

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 GABAA receptor α1, γ2, and δ subunits that have been associated with different IGE syndromes. These mutations affect GABAA 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.