摘要
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.
作者
苏红婷
吴淼娟
马洁卉
孙丹
Su Hongting;Wu Miaojuan;Ma Jiehui;Sun Dan(Department of Neurology,Wuhan Children′s Hospital of Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430016,China)
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2023年第5期391-393,共3页
Chinese Journal of Applied Clinical Pediatrics
基金
湖北省儿童神经发育障碍临床医学研究中心建设项目(鄂科技发社2020-19号)
湖北儿科联盟医学科研项目(HBPAMR-2021-4)。