Algahtani Hussein A, Shirah Bader H, Samman Ahmed, Alhazmi Abdulellah
Department of Medicine, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
King Abdullah International Medical Research Center, Jeddah, Saudi Arabia.
J Epilepsy Res. 2022 Jun 30;12(1):33-35. doi: 10.14581/jer.22006. eCollection 2022 Jun.
The calcium voltage-gated channel subunit alpha 1 H () 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 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 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 . 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 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 variant early and help with the early screening and diagnosis of other associated disorders including subclinical epilepsy.
钙电压门控通道亚基α1H（）是真核细胞中位于16号染色体上的一个基因，它编码T型钙通道，对细胞的钙内流和去极化很重要。该基因的致病变异会导致常染色体显性遗传性特发性全身性癫痫6型易感性（OMIM：611942），这是一个宽泛的术语，涵盖了几种常见的癫痫发作表型。在本文中，我们报告了一名沙特女性，其该基因（OMIM：607904）存在杂合变异，患有癫痫和听力损失。这是首例报告癫痫和听力损失与该基因变异相关的病例。我们认为该变异可能是导致癫痫和感音神经性听力损失的原因。需要进一步研究来确定该基因在耳部生理学中的作用，以便更好地理解突变的影响。对于出现儿童期早期听力损失的儿童，在经过高度筛选的病例中进行基因研究，包括那些有强烈听力损失和癫痫家族史的病例，可能有助于早期检测到该基因变异，并有助于早期筛查和诊断其他相关疾病，包括亚临床癫痫。
