家族性皮质肌阵挛性震颤癫痫是一组罕见的、具有明显临床异质性和遗传异质性的常染色体显性遗传性癫痫综合征，以成年起病、皮质肌阵挛性震颤、伴或不伴癫痫发作为主要临床表现。1999年至今已定位4个疾病基因位点，目前仅报道一个可能的致病基因ADRA2B。本课题组在前一个国家自然科学基金项目支持下，目前已收集到9个家系，Sanger测序未在ADRA2B基因编码区发现有意义突变，通过全基因组扫描及单体型分析将其中两个大家系的致病基因区间定位于8q24上（该位点致病基因暂未克隆），全外显子组测序在其中一个家系发现可能的致病基因X（文章尚未发表，基因名字以X替代）。下一步，我们将继续结合全基因组扫描、全外显子组测序、全基因组测序等技术，鉴定克隆已收集家系的致病基因，同时对X基因及可能新克隆的其他基因进行相关功能研究，为揭示该疾病的发病机制奠定基础，更有可能为癫痫这一常见病的诊断、治疗和预防开辟一条新的道路。

Familial cortical myoclonic tremor with epilepsy （FCMTE）is one kind of autosomal dominant epilepsy syndrome with considerable clinical and genetic heterogeneity. Its major clinical manifestations include adult onset, cortical myoclonic tremor, with or without epileptic seizures. Four loci have been found since 1999, while only one probable causative gene - ADRA2B was reported. With the supporting of NSFC, We have collected nine FCMTE pedigrees (none of wihch was detected variation in the coding-region of ADRA2B by Sanger sequencing) and localized two large pedigrees on locus 8q24 (causative gene in this locus has not been identified). By using whole-exome sequencing, we found a possible causative gene in one pedigree. By combining whole-genome scan, whole-exome sequencing and whole-genome sequencing, we hope to identify the causative genes in the FCMTE pedigrees collected. Identification of the causative genes of FCMTE and genes’ functional studies will help us understand the pathogenesis of this disorder. It may also shed light on the diagnosis, treatment, and prevention of Epilepsy, one of the most common neurological disorders.