Life Sciences Institute, University of Michigan, Ann Arbor, MI, USA.
Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA.
Brain Res. 2019 Jul 1;1714:234-247. doi: 10.1016/j.brainres.2019.03.004. Epub 2019 Mar 7.
Understanding the genetic variation in GABA receptor subunit genes (GABRs), GABRA1-6, GABRB1-3, GABRG1-3 and GABRD, in individuals affected by epilepsy may improve the diagnosis and treatment of epilepsy syndromes through identification of disease-associated variants. However, the lack of functional analysis and validation of many novel and previously reported familial and de novo mutations have made it challenging to address meaningful gene associations with epilepsy syndromes. GABA receptors belong to the Cys-loop receptor family. Even though GABA receptor mutant residues are widespread among different GABRs, their frequent occurrence in important structural domains that share common functional features suggests associations between structure and function.
了解受癫痫影响个体的 GABA 受体亚基基因（GABRs），即 GABRA1-6、GABRB1-3、GABRG1-3 和 GABRD 中的遗传变异，可通过鉴定与疾病相关的变异来改善癫痫综合征的诊断和治疗。然而，由于缺乏许多新的和以前报道的家族性和新生突变的功能分析和验证，因此难以确定与癫痫综合征有意义的基因关联。GABA 受体属于 Cys 环受体家族。尽管 GABA 受体突变残基广泛存在于不同的 GABRs 中，但它们经常出现在具有共同功能特征的重要结构域中，这表明结构和功能之间存在关联。
