{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T03:12:00Z","timestamp":1788405120544,"version":"build-2803163510"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,9,24]],"date-time":"2013-09-24T00:00:00Z","timestamp":1379980800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministry of Education, Culture, Science, and Technology of Japan"},{"name":"Ministry of Health, Labor and Welfare of Japan"},{"name":"Japan Circulation Society"},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["#81273501"],"award-info":[{"award-number":["#81273501"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiovasc electrophysiol"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:title>Channelopathies in Infantile Arrhythmias<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Fatal ventricular arrhythmias in the early period of life have been associated with cardiac channelopathies for decades, and postmortem analyses in SIDS victims have provided evidence of this association. However, the prevalence and functional properties of cardiac ion channel mutations in infantile fatal arrhythmia cases are not clear.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Results<\/jats:title><jats:p>Seven infants with potentially lethal arrhythmias at age &lt; 1 year (5 males, age of onset 44.1 \u00b1 72.1 days) were genetically analyzed for <jats:italic>KCNQ1, KCNH2, KCNE1\u20135, KCNJ2, SCN5A<\/jats:italic>, <jats:italic>GJA5<\/jats:italic>, and <jats:italic>CALM1<\/jats:italic> by using denaturing high\u2010performance liquid chromatography and direct sequencing. Whole\u2010cell currents of wildtype and mutant channels were recorded and analyzed in Chinese hamster ovary cells transfected with <jats:italic>SCN5A<\/jats:italic> and <jats:italic>KCNH2<\/jats:italic> cDNA. In 5 of 7 patients, we identified 4 mutations (p.N1774D, p.T290fsX53, p.F1486del and p.N406K) in <jats:italic>SCN5A<\/jats:italic>, and 1 mutation (p.G628D) in <jats:italic>KCNH2<\/jats:italic>. N1774D, F1486del, and N406K in <jats:italic>SCN5A<\/jats:italic> displayed tetrodotoxin\u2010sensitive persistent late Na<jats:sup>+<\/jats:sup> currents. By contrast, <jats:italic>SCN5A<\/jats:italic>\u2010T290fsX53 was nonfunctional. <jats:italic>KCNH2<\/jats:italic>\u2010G628D exhibited loss of channel function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Genetic screening of 7 patients was used to demonstrate the high prevalence of cardiac channelopathies. Functional assays revealed both gain and loss of channel function in <jats:italic>SCN5A<\/jats:italic> mutations, as well as loss of function associated with the <jats:italic>KCNH2<\/jats:italic> mutation.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jce.12270","type":"journal-article","created":{"date-parts":[[2013,8,26]],"date-time":"2013-08-26T13:32:49Z","timestamp":1377523969000},"page":"66-73","source":"Crossref","is-referenced-by-count":26,"title":["Cardiac Channelopathies Associated with Infantile Fatal Ventricular Arrhythmias: From the Cradle to the Bench"],"prefix":"10.1111","volume":"25","author":[{"given":"KOICHI","family":"KATO","sequence":"first","affiliation":[{"name":"Department of Cardiovascular and Respiratory Medicine Shiga University of Medical Science  Shiga Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"TAKERU","family":"MAKIYAMA","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine Kyoto University Graduate School 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