{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["8"],"submitter":["Zhang L"],"funding":["Wu Jieping Medical Foundation"],"pubmed_abstract":["<b>Background:</b> The <i>CACNA1A</i> 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 <i>CACNA1A</i> 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. <b>Methods:</b> Patients with hemiplegic migraine, cerebellar ataxia, developmental delay, or epilepsy without known causes were tested by trios whole-exome sequencing. Patients with pathogenic <i>CACNA1A</i> gene variants were recruited. The clinical information of the patients was collected, and the association between the genotype and the phenotype was investigat"],"journal":["Frontiers in pediatrics"],"pagination":["577544"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7793878"],"repository":["biostudies-literature"],"pubmed_title":["<i>CACNA1A</i> Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes."],"pmcid":["PMC7793878"],"pubmed_authors":["Wen Y","Bao X","Chen Y","Zhang L","Wang J","Shi K","Du L","Zhang Q"],"additional_accession":[]},"is_claimable":false,"name":"<i>CACNA1A</i> Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes.","description":"<b>Background:</b> The <i>CACNA1A</i> 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 <i>CACNA1A</i> 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. <b>Methods:</b> Patients with hemiplegic migraine, cerebellar ataxia, developmental delay, or epilepsy without known causes were tested by trios whole-exome sequencing. Patients with pathogenic <i>CACNA1A</i> gene variants were recruited. The clinical information of the patients was collected, and the association between the genotype and the phenotype was investigat","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020","modification":"2025-04-19T01:19:20.164Z","creation":"2025-04-07T12:10:25.575Z"},"accession":"S-EPMC7793878","cross_references":{"pubmed":["33425808"],"doi":["10.3389/fped.2020.577544"]}}