Genetic study epilepsies and febrile convulsions

癫痫包括一组具有临床和病因异质性和多因素发病机制的综合征。家族和双胞胎研究表明，遗传因素在特发性全身性癫痫的病因中起主要作用。本课题是为癫痫基因分析而组织的，研究对象包括特发性癫痫、良性成人家族性肌阵挛癫痫、良性婴幼儿家族性惊厥、婴儿期重度肌阵挛和热性惊厥。已经为每一种癫痫确定了纳入和排除标准。我们报告了良性成人家族性肌阵挛癫痫(BAFME)的临床遗传学研究结果和临床定义标准。BAFME与齿状核-苍白球萎缩之间缺乏联系已被发现，BAFME的一个或多个基因位点将很快被报道。我们对其他类型癫痫的连锁分析现在正在进行中，我们将能够在不久的将来将这些癫痫的基因定位在染色体上。

Epilepsy comprises a group of syndromes with clinical and etiologic heterogeneity and multifactorial pathogenesis. Family and twin studies have shown that genetic factors play a major role in the etiology of idiopathic generalized epilepsies. This project was organized for the study of epilepsy gene analysis.The epilepsies selected were idipathic epilepsies, benign adult familial myoclonic epilepsy, benign infantile familial convulsions, severe myoclonic epilepsy in infancy and febrile convulsions. Inclusion and exclusion criteria have been decided for each epilepsy. We have reported the results of clinical genetic study and established clinical definition criteria for benign adult familial myoclonic epilepsy (BAFME). The lack of linkage between BAFME and dentatorubral-pallidoluysian atrophy has been found, and gene loci or locus of BAFME will be reported shortly. Our linkage analysis for other types of epilespsies are now going on, and we will be able to map loci of these epilepsies on chromosomes in the near future.