癫是由多种原因引起的脑功能障碍综合征。近年来利用PCR、免疫印迹法等多种方法研究发现,癫症候群与γ-氨基丁酸(GABA)-A型受体α1、γ2、δ、β3亚基基因变异密切相关,其变异通过改变苯二氮卓艹结合区域高度保守的氨基酸残基、缩减功能性GABA-A受体复合物的表面表达、导致抑制性配体门控通道功能的丧失、影响受体到细胞表面的运输等途径,最终导致癫的发生。该文就GABA-A型受体基因变异与癫关系的研究进展作一综述。 Epilepsy is a syndrome of brain dysfunction caused by a variety of causes. In recent years, the use of PCR, Western blot and other methods found that epilepsy syndrome and γ-aminobutyric acid (GABA) -A receptor α1, γ2, δ, β3 subunit gene variation is closely related to its variation by changing Benzodiazepine binding region highly conserved amino acid residues, reducing the surface of functional GABA-A receptor complex, resulting in the loss of function of the inhibitory ligand gated channel, affecting the receptor to the cell surface and other means of transport , Eventually leading to the occurrence of epilepsy. This review summarizes the research progress on the relationship between GABA-A receptor mutation and epilepsy.