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 hea

SUBMITTER: Algahtani HA 

PROVIDER: S-EPMC9289382 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature