{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T23:04:12Z","timestamp":1769468652262,"version":"3.49.0"},"reference-count":36,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T00:00:00Z","timestamp":1769385600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Committee of Science of the Ministry of Science and Higher Education of the Republic of Kazakhstan","award":["BR24993023"],"award-info":[{"award-number":["BR24993023"]}]},{"name":"Committee of Science of the Ministry of Science and Higher Education of the Republic of Kazakhstan","award":["AP19677442"],"award-info":[{"award-number":["AP19677442"]}]},{"name":"Committee of Science of the Ministry of Science and Higher Education of the Republic of Kazakhstan","award":["AP23490249"],"award-info":[{"award-number":["AP23490249"]}]},{"name":"Committee of Science of the Ministry of Science and Higher Education of the Republic of Kazakhstan","award":["3"],"award-info":[{"award-number":["3"]}]},{"name":"Committee of Science of the Ministry of Science and Higher Education of the Republic of Kazakhstan","award":["BR24992841"],"award-info":[{"award-number":["BR24992841"]}]},{"name":"Committee of Science of the Ministry of Science and Higher Education of the Republic of Kazakhstan","award":["BR27199879"],"award-info":[{"award-number":["BR27199879"]}]},{"name":"Nazarbayev University CRP","award":["211123CRP1608"],"award-info":[{"award-number":["211123CRP1608"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Background\/Objectives: 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. Methods: 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. Results: A total of 52 variants were identified across 11 potassium channel genes. Two likely pathogenic variants (KCNH2 p.Cys66Gly and p.Arg176Trp) and six variants of uncertain significance (VUS) in KCNQ1, KCNE2, KCNE3, and KCNJ8 were detected. Two novel previously unreported variants were found in KCNE5 and KCND3. Patients harboring pathogenic variants commonly presented with early-onset arrhythmias or a positive family history of cardiovascular disease. Carriers of KCNH2 variants exhibited mild QT prolongation and recurrent syncope. Conclusions: This is the first genetic study of potassium channel gene mutations in Kazakhstani patients with cardiac arrhythmias. The detection of pathogenic and novel variants highlights the clinical utility of integrating genetic testing into diagnostic and management pathways for arrhythmia syndromes. Population-specific genomic data are essential for improving risk stratification, guiding medication safety, and enabling cascade family screening in Central Asia.<\/jats:p>","DOI":"10.3390\/jpm16020060","type":"journal-article","created":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T12:41:16Z","timestamp":1769431276000},"page":"60","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Variants in Potassium Channel Genes and Their Clinical Implications in Kazakhstani Patients with Cardiac Arrhythmias"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0877-3537","authenticated-orcid":false,"given":"Ayaulym","family":"Chamoieva","sequence":"first","affiliation":[{"name":"Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8245-2400","authenticated-orcid":false,"given":"Saule","family":"Rakhimova","sequence":"additional","affiliation":[{"name":"Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan"},{"name":"Eurasian Society of Personalized Medicine, Astana 010000, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-3616-5661","authenticated-orcid":false,"given":"Zhannur","family":"Abilova","sequence":"additional","affiliation":[{"name":"Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5557-3338","authenticated-orcid":false,"given":"Ainur","family":"Akhmetova","sequence":"additional","affiliation":[{"name":"Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0286-8386","authenticated-orcid":false,"given":"Gulbanu","family":"Akilzhanova","sequence":"additional","affiliation":[{"name":"Department of Medicine, Semey Medical University, Pavlodar Branch, Pavlodar 140000, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9704-8913","authenticated-orcid":false,"given":"Madina","family":"Zhalbinova","sequence":"additional","affiliation":[{"name":"Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3886-718X","authenticated-orcid":false,"given":"Asset","family":"Daniyarov","sequence":"additional","affiliation":[{"name":"Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan"},{"name":"Department of General Biology and Genomics, L. N. Gumilyov Eurasian National University, Astana 010000, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3342-2424","authenticated-orcid":false,"given":"Kenes","family":"Akilzhanov","sequence":"additional","affiliation":[{"name":"Department of Medicine, Semey Medical University, Pavlodar Branch, Pavlodar 140000, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2339-5204","authenticated-orcid":false,"given":"Askhat","family":"Molkenov","sequence":"additional","affiliation":[{"name":"Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8511-8064","authenticated-orcid":false,"given":"Ulykbek","family":"Kairov","sequence":"additional","affiliation":[{"name":"Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan"},{"name":"Eurasian Society of Personalized Medicine, Astana 010000, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6194-1029","authenticated-orcid":false,"given":"Anargul","family":"Kuanysheva","sequence":"additional","affiliation":[{"name":"Medical Centre Hospital of the President\u2019s Affairs Administration of the Republic of Kazakhstan, Astana 010000, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8720-2040","authenticated-orcid":false,"given":"Nurlan","family":"Shaimardanov","sequence":"additional","affiliation":[{"name":"Department of Medicine, Semey Medical University, Semey 071400, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6315-5016","authenticated-orcid":false,"given":"Ayan","family":"Abdrakhmanov","sequence":"additional","affiliation":[{"name":"Heart Rhythm Institute, Medical University Astana, Astana 010000, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2834-617X","authenticated-orcid":false,"given":"Makhabbat","family":"Bekbossynova","sequence":"additional","affiliation":[{"name":"Heart Center, Corporate Fund \u201cUniversity Medical Center\u201d, Nazarbayev University, Astana 010000, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6161-8355","authenticated-orcid":false,"given":"Ainur","family":"Akilzhanova","sequence":"additional","affiliation":[{"name":"Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Astana 010000, Kazakhstan"},{"name":"Eurasian Society of Personalized Medicine, Astana 010000, Kazakhstan"},{"name":"Department of General Biology and Genomics, L. N. Gumilyov Eurasian National University, Astana 010000, Kazakhstan"},{"name":"Heart Rhythm Institute, Medical University Astana, Astana 010000, Kazakhstan"},{"name":"The Academy of Public Administration Under the President of the Republic of Kazakhstan, Astana 010000, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,26]]},"reference":[{"key":"ref_1","unstructured":"World Health Organization (2025, April 04). Available online: https:\/\/www.who.int\/news-room\/fact-sheets\/detail\/cardiovascular-diseases-(cvds)."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"e18","DOI":"10.15420\/aer.2025.11","article-title":"Genetics of Sudden Cardiac Arrest: Overview of Genetic Risk Factors and Aetiologies","volume":"14","author":"Tan","year":"2025","journal-title":"Arrhythmia Electrophysiol. 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