{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T17:31:51Z","timestamp":1791048711596,"version":"4.1.0"},"reference-count":7,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiology"],"published-print":{"date-parts":[[2010]]},"abstract":"<jats:p>Mutations in the cardiac sodium channel encoded by the gene &lt;i&gt;SCN5A&lt;\/i&gt; can result in a wide array of phenotypes. We report a case of a young male with a novel &lt;i&gt;SCN5A&lt;\/i&gt; mutation (R121W) afflicted by sick sinus syndrome, progressive cardiac conduction disorder, atrial flutter and ventricular tachycardia. His father carried the same mutation, but had a milder phenotype, presenting with progressive cardiac conduction later in life. The mutation was found to result in a loss-of-function in the sodium current. In conclusion, the same &lt;i&gt;SCN5A&lt;\/i&gt; mutation can result in a wide array of clinical phenotypes and perhaps the spectrum of SCN5A loss-of-function associated disease entities should be viewed as one syndrome.<\/jats:p>","DOI":"10.1159\/000312747","type":"journal-article","created":{"date-parts":[[2010,4,15]],"date-time":"2010-04-15T07:24:05Z","timestamp":1271316245000},"page":"311-316","source":"Crossref","is-referenced-by-count":21,"title":["Sick Sinus Syndrome, Progressive Cardiac Conduction Disease, Atrial Flutter and Ventricular Tachycardia Caused by a Novel &lt;i&gt;SCN5A&lt;\/i&gt; Mutation"],"prefix":"10.1159","volume":"115","author":[{"given":"Anders G.","family":"Holst","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Jespersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henning","family":"Bundgaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stig","family":"Haunso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesper Hastrup","family":"Svendsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Tfelt-Hansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2010,4,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.2006.00621.x"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1540-8167.2009.01633.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1161%2F01.CIR.0000152479.54298.51"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1540-8167.2006.00349.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093%2Fcvr%2Fcvn023"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1161%2FCIRCGENETICS.109.853374"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1540-8159.2006.00507.x"}],"container-title":["Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/312747","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/312747","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:05:13Z","timestamp":1745435113000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000312747"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010]]},"references-count":7,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2010,4,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000312747","archive":["Portico"],"relation":{},"ISSN":["0008-6312","1421-9751"],"issn-type":[{"value":"0008-6312","type":"print"},{"value":"1421-9751","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010]]}}}