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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Korean Epilepsy Society
2022
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| Materias: | |
| 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 |