{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T16:18:44Z","timestamp":1773332324713,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,3,28]],"date-time":"2003-03-28T00:00:00Z","timestamp":1048809600000},"content-version":"vor","delay-in-days":55,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiovasc electrophysiol"],"published-print":{"date-parts":[[2003,2]]},"abstract":"<jats:p> <jats:bold>\n            <jats:italic>SCN5A<\/jats:italic> Mutation and ST Segment Elevation in Inferior Leads<\/jats:bold>. Mutations in the <jats:italic>SCN5A<\/jats:italic> gene can lead to the Brugada syndrome, a genetically inherited form of idiopathic ventricular fibrillation that has a characteristic ECG phenotype usually restricted to precordial leads V<jats:sub><jats:bold>1<\/jats:bold><\/jats:sub>\u2013V<jats:sub><jats:bold>3<\/jats:bold><\/jats:sub>. We identified a novel G752R <jats:italic>SCN5A<\/jats:italic> missense mutation leading to various degrees of the Brugada ECG phenotype in members of a French family. In the proband, the G752R mutation produced ST segment elevation and prominent J wave in leads II, III, and aVF. In four other relatives, ST segment elevation in the right precordial but not in the inferior leads was observed either spontaneously or under flecainide challenge. Recombinant G752R mutant exhibited a markedly reduced Na<jats:bold><jats:sup>+<\/jats:sup><\/jats:bold> current amplitude and a voltage shift in both activation and inactivation curves. The mutant was found in all affected but not in nonaffected family members. One additional gene\u2010carrier had an almost normal ECG (silent gene\u2010carrier). We provide genetic demonstration that Brugada ECG anomalies related to a unique <jats:italic>SCN5A<\/jats:italic> mutation can be observed either in the inferior or the right precordial leads. <jats:italic>(J Cardiovasc Electrophysiol, Vol. 14, pp. 200\u2010203, February 2003)<\/jats:italic><\/jats:p>","DOI":"10.1046\/j.1540-8167.2003.02382.x","type":"journal-article","created":{"date-parts":[[2010,8,16]],"date-time":"2010-08-16T09:34:35Z","timestamp":1281951275000},"page":"200-203","source":"Crossref","is-referenced-by-count":91,"title":["Novel Brugada <i>SCN5A<\/i> Mutation Leading to ST Segment Elevation in the Inferior or the Right Precordial Leads"],"prefix":"10.1111","volume":"14","author":[{"given":"FRANCK","family":"POTET","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"PHILIPPE","family":"MABO","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"GUILLAUME","family":"LE COQ","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"VINCENT","family":"PROBST","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JEAN\u2010JACQUES","family":"SCHOTT","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"FABRICE","family":"AIRAUD","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"GILLES","family":"GUIHARD","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JEAN\u2010CLAUDE","family":"DAUBERT","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"DENIS","family":"ESCANDE","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"HERV\u00c9","family":"LE MAREC","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,3,28]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(00)01300-X"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.99.5.666"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(01)00625-8"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.102.20.2509"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8167.1998.tb00869.x"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8167.2000.tb00743.x"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8167.2000.tb00062.x"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0236"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1161\/hc5001.100834"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1161\/hc0602.103618"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(02)01962-9"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.85.12.1206"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.100.15.1660"}],"container-title":["Journal of Cardiovascular Electrophysiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1046\/j.1540-8167.2003.02382.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T08:34:35Z","timestamp":1694421275000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1046\/j.1540-8167.2003.02382.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,2]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,2]]}},"alternative-id":["10.1046\/j.1540-8167.2003.02382.x"],"URL":"https:\/\/doi.org\/10.1046\/j.1540-8167.2003.02382.x","archive":["Portico"],"relation":{},"ISSN":["1045-3873","1540-8167"],"issn-type":[{"value":"1045-3873","type":"print"},{"value":"1540-8167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,2]]}}}