Janz D, Beck-Mannagetta G, Sander T
Neurologische Klinik, Klinikum Rudolf-Virchow, Freie Universität, Berlin.
Neurology. 1992 Apr;42(4 Suppl 5):48-55.
Molecular genetic research in epilepsy is most promising in the homogeneous, genetically determined forms of the disease. The phenotype-genotype strategy used makes some epileptic syndromes more suitable for such study than others. Unequivocal clinical presentation, mendelian transmission with similar clinical expression in close relatives, and sufficiently large numbers of affected families are requisites. This makes idiopathic generalized epilepsies (IGEs), particularly absence and juvenile myoclonic epilepsies (JMEs), suitable subtypes for genetic analysis. Results of family studies to date show that five IGE syndromes have a common genetic origin. Linkage studies have localized a gene defect on chromosome 6p that predisposes to a group of IGEs: JME, absence epilepsy, and generalized tonic-clonic seizures in epilepsy families with JME probands. Environmental and additional genetic factors are other areas requiring further study to elucidate the discriminant factors associated with different varieties of IGE.
癫痫的分子遗传学研究在该疾病的同质、基因决定型中最具前景。所采用的表型-基因型策略使某些癫痫综合征比其他综合征更适合此类研究。明确的临床表现、近亲中具有相似临床表型的孟德尔遗传方式以及足够多的患病家庭是必要条件。这使得特发性全身性癫痫(IGE),尤其是失神发作和青少年肌阵挛性癫痫(JME),成为适合进行遗传分析的亚型。迄今为止的家系研究结果表明,五种IGE综合征有共同的遗传起源。连锁研究已将一个基因缺陷定位在6号染色体短臂上,该缺陷使一组IGE易感性增加:在以JME为先证者的癫痫家系中,JME、失神癫痫和全身强直-阵挛发作。环境因素和其他遗传因素是需要进一步研究以阐明与不同类型IGE相关的鉴别因素的其他领域。