{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T02:27:53Z","timestamp":1792290473948,"version":"4.4.0"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,7,23]],"date-time":"2014-07-23T00:00:00Z","timestamp":1406073600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiovasc electrophysiol"],"published-print":{"date-parts":[[2015,1]]},"abstract":"p.Y1449C SCN5A<\/jats:italic> Mutation in a Family with Overlap Disorder<\/jats:title>Mutations in the SCN5A<\/jats:italic> gene, which encodes the cardiac sodium channel, have been associated with cardiac arrhythmia syndromes and conduction disease. Specific SCN5A<\/jats:italic> mutations had initially been considered to cause specific phenotypes. More recently, some SCN5A<\/jats:italic> mutations have been associated with overlap syndromes, characterized by phenotypic heterogeneity within and between mutation carriers. Here we report and associate the presence of the p.Y1449C SCN5A<\/jats:italic> mutation in a single family with a spectrum of cardiac phenotypes including conduction disease, Brugada syndrome and atrial arrhythmias, for the first time to our knowledge.<\/jats:p>","DOI":"10.1111\/jce.12470","type":"journal-article","created":{"date-parts":[[2014,6,5]],"date-time":"2014-06-05T12:18:54Z","timestamp":1401970734000},"page":"93-97","source":"Crossref","is-referenced-by-count":17,"title":["p.Y1449C SCN5A<\/i> Mutation Associated with Overlap Disorder Comprising Conduction Disease, Brugada Syndrome, and Atrial Flutter"],"prefix":"10.1111","volume":"26","author":[{"given":"SANDEEP S.","family":"HOTHI","sequence":"first","affiliation":[{"name":"Physiological Laboratory University of Cambridge Cambridge UK"},{"name":"Murray Edwards College University of Cambridge Cambridge UK"},{"name":"Heart Centre Northampton General Hospital Northampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FARHANA","family":"ARA","sequence":"additional","affiliation":[{"name":"Heart Centre Northampton General Hospital Northampton UK"},{"name":"Glenfield Hospital Leicester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JONATHAN","family":"TIMPERLEY","sequence":"additional","affiliation":[{"name":"Heart Centre Northampton General Hospital Northampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,7,23]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1053\/euhj.2002.3382"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0735-1097(92)90253-J"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2009.09.069"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1253\/circj.CJ-12-0717"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm0901-1021"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.082121299"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcm.2008.01.002"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/europace\/eun267"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1161\/hc5001.100834"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1253\/circj.CJ-09-0014"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardiores.2007.08.006"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.013300"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0828-282X(06)70915-1"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.056333"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI0215570"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200318062"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.86.9.e91"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1161\/hc1002.105183"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8167.2007.01073.x"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1542-474X.2008.00230.x"},{"key":"e_1_2_5_22_1","first-page":"1149","article-title":"Atrial fibrillation and Brugada syndrome","volume":"51","author":"Johnson F","year":"2009","journal-title":"J Am Coll Cardiol"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1253\/circj.69.946"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2005.02.024"}],"container-title":["Journal of Cardiovascular Electrophysiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjce.12470","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjce.12470","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jce.12470","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T06:32:50Z","timestamp":1696228370000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jce.12470"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,23]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["10.1111\/jce.12470"],"URL":"https:\/\/doi.org\/10.1111\/jce.12470","archive":["Portico"],"relation":{},"ISSN":["1045-3873","1540-8167"],"issn-type":[{"value":"1045-3873","type":"print"},{"value":"1540-8167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7,23]]}}}