{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chamoieva A"],"funding":["Committee of Science of the Ministry of Science and Higher Education of the Republic of Kazakhstan, Nazarbayev University"],"pagination":["60"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12942129"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["16(2)"],"pubmed_abstract":["<b>Background/Objectives</b>: Cardiac arrhythmias are among the leading causes of sudden cardiac death (SCD). Pathogenic variants in potassium channel genes play a key role in inherited arrhythmia syndromes, yet their contribution in Central Asian populations remains poorly characterized. <b>Methods</b>: We performed targeted next-generation sequencing (NGS) using a 96-gene custom Haloplex panel in 79 Kazakhstani patients with clinically diagnosed arrhythmias, including atrioventricular block, sick sinus syndrome, and atrial fibrillation. Detected variants in potassium channel genes were classified according to ACMG guidelines and correlated with clinical phenotypes. <b>Results</b>: A total of 52 variants were identified across 11 potassium channel genes. Two likely pathogenic variants (<i"],"journal":["Journal of personalized medicine"],"pubmed_title":["Genetic Variants in Potassium Channel Genes and Their Clinical Implications in Kazakhstani Patients with Cardiac Arrhythmias."],"pmcid":["PMC12942129"],"funding_grant_id":["AP19677442, AP23490249, BR24993023, BR24992841, BR27199879, CRP 211123CRP1608"],"pubmed_authors":["Zhalbinova M","Chamoieva A","Kairov U","Molkenov A","Abilova Z","Akilzhanova G","Daniyarov A","Akilzhanov K","Shaimardanov N","Rakhimova S","Akhmetova A","Akilzhanova A","Bekbossynova M","Kuanysheva A","Abdrakhmanov A"],"additional_accession":[]},"is_claimable":false,"name":"Genetic Variants in Potassium Channel Genes and Their Clinical Implications in Kazakhstani Patients with Cardiac Arrhythmias.","description":"<b>Background/Objectives</b>: Cardiac arrhythmias are among the leading causes of sudden cardiac death (SCD). Pathogenic variants in potassium channel genes play a key role in inherited arrhythmia syndromes, yet their contribution in Central Asian populations remains poorly characterized. <b>Methods</b>: We performed targeted next-generation sequencing (NGS) using a 96-gene custom Haloplex panel in 79 Kazakhstani patients with clinically diagnosed arrhythmias, including atrioventricular block, sick sinus syndrome, and atrial fibrillation. Detected variants in potassium channel genes were classified according to ACMG guidelines and correlated with clinical phenotypes. <b>Results</b>: A total of 52 variants were identified across 11 potassium channel genes. Two likely pathogenic variants (<i","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Jan","modification":"2026-07-11T03:11:52.53Z","creation":"2026-07-11T03:09:01.859Z"},"accession":"S-EPMC12942129","cross_references":{"pubmed":["41745353"],"doi":["10.3390/jpm16020060"]}}