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Advances on the spectrum of neurological diseases related to the CACNA1A gene / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics ; (24): 787-790, 2022.
Article in Chinese | WPRIM | ID: wpr-930518
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.

Full text: Available Index: WPRIM (Western Pacific) Language: Chinese Journal: Chinese Journal of Applied Clinical Pediatrics Year: 2022 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Language: Chinese Journal: Chinese Journal of Applied Clinical Pediatrics Year: 2022 Type: Article