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癫痫是一种多基因遗传的复杂疾病,其表型特征涉及多个基因序列和表达的改变,目前已明确与人类癫痫相关的基因有500多个,所涉及的癫痫种类众多,表型各异。新一代测序技术极大地增加了新的癫痫致病基因的发现速度,使临床能够确定越来越多患者的癫痫遗传病因,并更好地理解该疾病潜在的病理生理机制。儿童癫痫综合征具有特殊的临床及电生理特征,常具有明显的遗传背景,特定年龄段起病,因此在癫痫相关遗传研究中也有着最为丰硕的收获。文章就遗传性全面强直-阵挛发作性癫痫、全面性癫痫伴热性惊厥附加症、儿童失神癫痫、青少年肌阵挛癫痫等儿童癫痫综合征相关的致病基因,特别是电压门控离子通道的亚基,以及配体门控离子通道的亚基等最新研究进展进行总结。
Epilepsy is a complex multi-gene disease, the phenotypic characteristics of multiple genes involved in the sequence and expression changes, it has been clearly associated with human epilepsy more than 500 genes involved in many types of epilepsy, phenotypic differences . A new generation of sequencing technology has greatly increased the rate of discovery of new epileptogenic genes that enable clinical determination of the genetic cause of epilepsy in an increasing number of patients and a better understanding of the underlying pathophysiologic mechanisms of the disease. Children with epilepsy syndrome has a special clinical and electrophysiological characteristics, often with a clear genetic background, the onset of a particular age, so in epilepsy-related genetic research also has the most fruitful harvest. In this paper, the genetic pathogenic genes associated with epilepsy syndrome in children with generalized tonic-clonic seizures, generalized epilepsy with febrile seizures, childhood absence epilepsy, and juvenile myoclonic epilepsy, in particular voltage-gated ion channels Of subunits, as well as the gated ion channel subunits and other recent research progress is summarized.