儿童失神癫痫是一种特发性、多因子遗传病因的全身性癫痫,遗传因素在其发病中起重要作用。其频繁发作,特别是较早的发病年龄,严重损害了患儿的认知功能。通过对儿童失神癫痫的分子遗传学方面研究成果的取得,对于开展产前诊断、遗传咨询及研制有效的抗癫痫药物,进行基因诊断和基因治疗都有重要意义。 Child absence epilepsy is an idiopathic, multifactorial genetic cause of generalized epilepsy, genetic factors play an important role in the pathogenesis. Its frequent episodes, especially the earlier age of onset, have seriously impaired children’s cognitive function. Through the research on molecular genetics of childhood absence epilepsy, it is of great significance for prenatal diagnosis, genetic counseling and the development of effective antiepileptic drugs, gene diagnosis and gene therapy.