Article
Electrophysiological characterization of a Cav3.2 calcium channel missense variant associated with epilepsy and hearing loss.
Molecular brain - 21 Sept 2023
Stringer Robin N, Cmarko Leos, Zamponi Gerald W, De Waard Michel, Weiss Norbert
Abstract excerpt
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 reported in a patient presenting with epilepsy and hearing loss-apparently the first CACNA1H mutation to be associated with a...
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