Electrophysiological characterization of a Cav3.2 calcium channel missense variant associated with epilepsy and hearing loss

Electrophysiological characterization of a Cav3.2 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 Cav3.2 T-type calcium channel was report...

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Bibliographic Details
Main Authors: Robin N. Stringer, Leos Cmarko, Gerald W. Zamponi, Michel De Waard, Norbert Weiss
Format: Article
Language:English
Published: BMC 2023-09-01
Series:Molecular Brain
Subjects:
Ion channels
Calcium channels
T-type channels
CACNA1H
Cav3.2
Mutation
Online Access:https://doi.org/10.1186/s13041-023-01058-2

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