不明原因早期癫性脑病的遗传基础研究与进展

摘要

Early-onset epileptic encephalopathies (EEEs) are devastating disorders characterized by progressive psy-chomotor retardation, recurrent clinical seizures or prominent interictal epileptiform discharges during the neonatal and early infantile periods. Recent studies highlighted that half of EEEs have been attributed to copy number variants or genetic mutations. Given the complexity of such evaluations, we summarized recent updates on genetic evaluation of 6 types of epileptic encepha-lopathy which have phenotypic consistence with epilepsy syndrome according to the International League against Epilepsy (ILAE) classifications, and emphasized the role of rare copy number variants in EEEs. The purpose of this review is to improve the knowledge of pediatric neurologists in the evaluation and counseling of patients with etiologically obscure EEEs.%早期癫性脑病(early-onset epileptic encephalopathies,EEEs)是指在新生儿期或婴儿期出现持续的癫性活动,从而导致认知、运动全面发育落后,自闭症等灾难性的神经系统后遗症.近年来的研究提示,基因突变及拷贝数变异(rare copy number variants,CNV)与本病密切相关.文章介绍国际抗癫联盟(International League Against Epilepsy,ILAE)确认的、但病因不明的6种EEEs遗传研究进展,以及CNVs与EEEs的关系,以提高儿科神经专科医师对病因不明确的EEEs临床表型及基因型的认识.