Electrophysiological characterization of a Ca_v3.2 calcium channel missense variant associated with epilepsy and hearing loss.

ABSTRACT: T-type calcium channelopathies encompass a group of human disorders either caused or exacerbated by mutations in the genes encoding different T-type calcium channels. Recently, a new heterozygous missense mutation in the CACNA1H gene that encodes the Ca_v3.2 T-type calcium channel was reported in a patient presenting with epilepsy and hearing loss-apparently the first CACNA1H mutation to be associated with a sensorineural hearing condition. This mutation leads to the substitution of an arginine at position 132 with a histidine (R132H) in the proximal extracellular end of the second transmembrane helix of Ca_v3.2. In this study, we report the electrophysiological characterization of this new variant using whole-cell patch clamp recordings in tsA-201 cells. Our data revea

SUBMITTER: Stringer RN 

PROVIDER: S-EPMC10515227 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature