2023
DOI: 10.1186/s13041-023-01058-2
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Electrophysiological characterization of a Cav3.2 calcium channel missense variant associated with epilepsy and hearing loss

Robin N. Stringer,
Leos Cmarko,
Gerald W. Zamponi
et al.

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 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 … Show more

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