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

ABSTRACT: 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 susceptibility to idiopathic generalized epilepsy 6 (OMIM: 611942), which is a broad term that encompasses several common seizure phenotypes. In this article, we reported a Saudi female with a heterozygous variant in the CACNA1H gene (OMIM: 607904) who had epilepsy and hearing loss. This is the first case to report the association of epilepsy and hearing loss with a variant in CACNA1H. We believe that variant may be the reason for developing both epilepsy and sensorineural hearing loss. Further studies are needed to identify the role of CACNA1H in the physiology of the ear to allow for a better understanding of the effects of mutations. In children who present with early childhood hearing loss, genetic studies in highly selected cases including those with a strong family history of hearing loss and epilepsy may help detect a CACNA1H variant early and help with the early screening and diagnosis of other associated disorders including subclinical epilepsy.

SUBMITTER: Algahtani H

PROVIDER: S-EPMC9289382 | biostudies-literature |

REPOSITORIES: biostudies-literature

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