Developmental epileptic encephalopathy associated with the CACNA1E gene mutation
10.3760/cma.j.cn101070-20220705-00826
- VernacularTitle:CACNA1E基因突变相关发育性癫痫性脑病
- Author:
Hongting SU
1
;
Miaojuan WU
;
Jiehui MA
;
Dan SUN
Author Information
1. 华中科技大学同济医学院附属武汉儿童医院神经内科，武汉 430016
- Keywords:
CACNA1E gene;
Developmental epileptic encephalopathy;
Cav2.3 R type Calcium channel
- From:
Chinese Journal of Applied Clinical Pediatrics
2023;38(5):391-393
- CountryChina
- Language:Chinese
-
Abstract:
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.
