Sander T, Hildmann T, Janz D, Wienker T F, Bianchi A, Bauer G, Sailer U, Scaramelli A, Neitzel H, Schmitz B, Bailey M E, Beck-Mannagetta G, Johnson K J, Darlison M G
Department of Psychiatry, University Hospital Benjamin Franklin, Free University of Berlin, Germany.
Epilepsy Res. 1996 Apr;23(3):235-44. doi: 10.1016/0920-1211(95)00098-4.
Hereditary factors play a major role in the etiology of idiopathic generalized epilepsies (IGEs). The pivotal function of ionotropic gamma-aminobutyric acid type A receptors (GABRs) in inhibitory neurotransmission in the mammalian central nervous system suggests that they may be involved in epileptogenesis and genetic predisposition to IGEs. Dinucleotide repeat polymorphisms associated with the human GABAA receptor alpha 1 (GABRA1) and gamma 2 subunit (GABRG2) gene cluster on chromosome 5q32-q35 offer the opportunity to test whether these candidate genes confer susceptibility to IGEs. Our linkage analyses in 63 families ascertained through IGE patients with either juvenile myoclonic epilepsy, juvenile absence epilepsy or childhood absence epilepsy do not support the hypothesis that variants within the GABRA1 and GABRG2 gene cluster contribute a frequent major gene effect to the expression of the common familial IGEs.
遗传因素在特发性全身性癫痫（IGEs）的病因中起主要作用。离子型γ-氨基丁酸A型受体（GABRs）在哺乳动物中枢神经系统抑制性神经传递中的关键作用表明，它们可能参与癫痫发生以及IGEs的遗传易感性。与位于5号染色体q32 - q35上的人类GABAA受体α1（GABRA1）和γ2亚基（GABRG2）基因簇相关的二核苷酸重复多态性，为测试这些候选基因是否赋予IGEs易感性提供了机会。我们对63个通过患有青少年肌阵挛性癫痫、青少年失神癫痫或儿童失神癫痫的IGE患者确诊的家系进行连锁分析，结果不支持以下假设：GABRA1和GABRG2基因簇内的变异对常见家族性IGEs的表达有频繁的主要基因效应。
