儿童睡眠中癫痫性电持续状态的分子遗传学研究进展

Advances in molecular genetics of electrical status epilepticus during sleep in children

儿童睡眠中癫痫性电持续状态(electrical status epilepticus during sleep,ESES)是一种特殊的脑电图,涉及多种癫痫综合征,可导致不同程度的运动、认知、行为、语言退化。目前病因尚未明确,文献报道已发现8个致病基因与ESES发病有关,分别为GRIN2A、CNKSR2、SCN2A、KCNA2、KCNQ2、KCNB1、SLC6A1和WAC基因,现阐述近年来该病的分子遗传学研究进展。

Electrical status epilepticus during sleep(ESES)is a special electroencephalography in children.It is involved in a variety of epileptic syndromes and can lead to different degrees of degradation of movement,cognition,behavior,language.At present,the cause of ESES is still unknown.According to literature reports,8 pathogenic genes have been found to be related to ESES,namely GRIN2A,CNKSR2,SCN2A,KCNA2,KCNQ2,KCNB1,SLC6A1 and WAC genes.In this review,progress of ESES molecular genetics are discussed.