Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy syndrome and long QT syndrome. Several case reports have suggested that CACNA1C variation may also be associated with a primarily neurological phenotype.We describe 25 individuals from 22 families with heterozygous variants in CACNA1C, who...