ArticleInternational journal of genomics2026
Identification of Two Rare Variants in Iranian Families With Familial Sudden Cardiac Death.
Article in International journal of genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Identification of Two Rare Variants in Iranian Families With Familial Sudden Cardiac Death.International journal of genomics · 2026Article
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10 authors.
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Abstract
Cellular action potential is characterized by a particular sequence of depolarizing and repolarizing ion currents regulated by ion channels. Genetic mutations in these channels disrupt the essential movement of ions, such as Na+, Ca++, and K+, across the cell membrane, leading to dangerous arrhythmias and sudden cardiac death (SCD). Most cases of unexplained SCD are caused by pathogenic variants in genes linked to channelopathies and cardiomyopathy. Genetic investigations might aid in confirming the clinical diagnosis based solely on observations. Other advantages of genetic studies are clinical management of the patient, family screening, appropriate genetic counseling, and risk assessment for family members. This study was conducted to investigate the genetic cause of early-onset SCD in two Iranian families. Whole-exome sequencing was performed on the probands from each family, and the Illumina DRAGEN haplotype variant calling system was used to identify variants in each patient. Here, we identified rare heterozygous missense variants in the
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