Epilepsy and Hearing Loss in a Patient with a Rare Heterozygous Variant in the CACNA1H Gene

The calcium voltage-gated channel subunit alpha 1 H (CACNA1H) is a gene present in eukaryotic cells located on chromosome 16 that encodes the T-type calcium channels, which are important for calcium influx and depolarization of cells. Pathogenic variants in CACNA1H cause autosomal dominant susceptib...

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Detalles Bibliográficos
Autores principales: Algahtani, Hussein A., Shirah, Bader H., Samman, Ahmed, Alhazmi, Abdulellah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Epilepsy Society 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289382/
https://www.ncbi.nlm.nih.gov/pubmed/35910327
http://dx.doi.org/10.14581/jer.22006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289382/
https://www.ncbi.nlm.nih.gov/pubmed/35910327
http://dx.doi.org/10.14581/jer.22006

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