Research progress of voltage-gated Calcium channel gene mutations associated with epilepsy in children
10.3760/cma.j.cn101070-20211221-01488
- VernacularTitle:电压门控钙离子通道基因突变与儿童癫痫研究进展
- Author:
Shuyao CHEN
1
;
Guizhi XIA
;
Xiaojing NIE
Author Information
1. 福建医科大学福总临床医学院儿科，福州 350025
- Keywords:
Voltage-gated Calcium channel;
Gene;
Epilepsy;
Developmental and epileptic encephalopathy;
Child
- From:
Chinese Journal of Applied Clinical Pediatrics
2023;38(2):154-157
- CountryChina
- Language:Chinese
-
Abstract:
Abnormal expression and dysfunction of voltage-gated Calcium channels (VGCCs) can give rise to a variety of neurological disorders in children, including epilepsy, migraine and ataxia.In the past, only CACNA1A, CACNA1H, CACNA2D2 and CACNB4 were considered associated with epilepsy in children.In recent years, an increasing number of VGCCs gene associated with epilepsy in children have been found, especially developmental and epileptic encephalopathy genes.This study aims to review the research progress of VGCCs gene mutations associated with epilepsy in children.
