Advances on the spectrum of neurological diseases related to the CACNA1A gene
10.3760/cma.j.cn101070-20201213-01891
- VernacularTitle:CACNA1A基因相关神经系统疾病谱研究进展
- Author:
Ming LIU
1
;
Changhong DING
Author Information
1. 国家儿童医学中心，首都医科大学附属北京儿童医院神经内科，北京 100045
- Keywords:
Hemiplegic migraine;
Spinocerebellar ataxia;
Episodic ataxia;
Epileptic encephalopathy
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(10):787-790
- CountryChina
- Language:Chinese
-
Abstract:
The CACNA1A gene encodes a voltage-gated calcium channel of the pore-forming protein, which has important functions in the central nervous system.The CACNA1A gene mutation can lead to a variety of neurological diseases, including familial hemiplegic migraine 1, spinocerebellar ataxia 6, episodic ataxia 2 and early infantile epileptic encephalopathy 42.Overlapping phenotypes could be observed in a small number of patients.This review summarized the clinical and genetic characteristics of the CACNA1A gene mutation.
