CACNA1E基因突变相关发育性癫痫性脑病

Developmental epileptic encephalopathy associated with the CACNA1E gene mutation

发育性癫痫性脑病(DEE)的重要病因之一为离子通道基因变异,其中包括CACNA1E基因突变。CACNA1E相关DEE病例首次报道于2018年,突变类型包含新发错义突变、无义突变及移码突变,但突变位点及类型与表型关系不明确,现对已报道的CACNA1E相关DEE病例进行归纳,进一步探索CACNA1E相关DEE临床表型与基因突变位点及突变类型之间的关系,同时回顾CACNA1E相关DEE的可能发病机制及药物干预进展,为DEE的诊断及精准治疗提供帮助。

One of the important causes of developmental epileptic encephalopathy(DEE)is the mutation of ion channel genes,including the mutation of the CACNA1E gene.CACNA1E-related DEE cases were first reported in 2018.The mutation types include new missense mutations,nonsense mutations and frameshift mutations,but the correlation between mutation sites and types with the phenotype of DEE is not clear.This review aims to summarize the reported CACNA1E-related DEE cases,and explore the correlation between the clinical phenotype of CACNA1E-related DEE and gene mutation sites and mutation types.Meanwhile,possible pathogenesis of CACNA1E-related DEE and the progress of drug intervention were reviewed to provide references for the diagnosis and precise treatment of DEE.