Electrophysiological characterization of a Ca(v)3.2 calcium channel missense variant associated with epilepsy and hearing loss

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(v)3.2 T-type calcium channel was reported in a...

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Detalles Bibliográficos
Autores principales: Stringer, Robin N., Cmarko, Leos, Zamponi, Gerald W., De Waard, Michel, Weiss, Norbert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Micro Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515227/
https://www.ncbi.nlm.nih.gov/pubmed/37735453
http://dx.doi.org/10.1186/s13041-023-01058-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515227/
https://www.ncbi.nlm.nih.gov/pubmed/37735453
http://dx.doi.org/10.1186/s13041-023-01058-2

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