biostudies-literatureUnknown8Zhang LWu Jieping Medical FoundationBackground: The CACNA1A gene encodes the voltage-dependent P/Q-type calcium channel subunit alpha-1A, which is widely expressed throughout the CNS. The biological roles of the P/Q channel are diverse and the phenotypic spectrum caused by CACNA1A mutations is wide. The aim of this study is to demonstrate its phenotypic diversity and analyze the genotype-phenotype correlations in a cohort of Chinese patients. Methods: Patients with hemiplegic migraine, cerebellar ataxia, developmental delay, or epilepsy without known causes were tested by trios whole-exome sequencing. Patients with pathogenic CACNA1A gene variants were recruited. The clinical information of the patients was collected, and the association between the genotype and the phenotype was investigatFrontiers in pediatrics577544https://www.ebi.ac.uk/biostudies/studies/S-EPMC7793878biostudies-literatureCACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes.PMC7793878Wen YBao XChen YZhang LWang JShi KDu LZhang QfalseCACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes.Background: The CACNA1A gene encodes the voltage-dependent P/Q-type calcium channel subunit alpha-1A, which is widely expressed throughout the CNS. The biological roles of the P/Q channel are diverse and the phenotypic spectrum caused by CACNA1A mutations is wide. The aim of this study is to demonstrate its phenotypic diversity and analyze the genotype-phenotype correlations in a cohort of Chinese patients. Methods: Patients with hemiplegic migraine, cerebellar ataxia, developmental delay, or epilepsy without known causes were tested by trios whole-exome sequencing. Patients with pathogenic CACNA1A gene variants were recruited. The clinical information of the patients was collected, and the association between the genotype and the phenotype was investigat2020-01-01T00:00:00Z20202025-04-19T01:19:20.164Z2025-04-07T12:10:25.575ZS-EPMC77938783342580810.3389/fped.2020.577544