{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T21:33:59Z","timestamp":1791408839877,"version":"4.3.3"},"reference-count":19,"publisher":"Oxford University Press (OUP)","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1093\/europace\/euu063","type":"journal-article","created":{"date-parts":[[2014,4,12]],"date-time":"2014-04-12T20:54:25Z","timestamp":1397336065000},"page":"1828-1837","source":"Crossref","is-referenced-by-count":92,"title":["Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes"],"prefix":"10.1093","volume":"16","author":[{"given":"Megumi","family":"Fukuyama","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichi","family":"Kato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiko","family":"Ohno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei-Guang","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Futoshi","family":"Toyoda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideki","family":"Itoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiromi","family":"Kimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeru","family":"Makiyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Ito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Matsuura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minoru","family":"Horie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2014,4,12]]},"reference":[{"key":"key\n\t\t\t\t20170522222154_EUU063C1","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1161\/01.CIR.84.3.1136","article-title":"The long QT syndrome. Prospective longitudinal study of 328 families","volume":"84","author":"Moss","year":"1991","journal-title":"Circulation"},{"key":"key\n\t\t\t\t20170522222154_EUU063C2","doi-asserted-by":"crossref","first-page":"1761","DOI":"10.1161\/CIRCULATIONAHA.109.863209","article-title":"Prevalence of the congenital long-QT syndrome","volume":"120","author":"Schwartz","year":"2009","journal-title":"Circulation"},{"key":"key\n\t\t\t\t20170522222154_EUU063C3","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.jacc.2013.04.044","article-title":"Impact of genetics on the clinical management of channelopathies","volume":"62","author":"Schwartz","year":"2013","journal-title":"J Am Coll Cardiol"},{"key":"key\n\t\t\t\t20170522222154_EUU063C4","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/0959-4388(91)90004-Q","article-title":"Structure and function of voltage-gated sodium and calcium channels","volume":"1","author":"Catterall","year":"1991","journal-title":"Curr Opin Neurobiol"},{"key":"key\n\t\t\t\t20170522222154_EUU063C5","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.cell.2004.09.011","article-title":"Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism","volume":"119","author":"Splawski","year":"2004","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522222154_EUU063C6","doi-asserted-by":"crossref","first-page":"8089","DOI":"10.1073\/pnas.0502506102","article-title":"Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations","volume":"102","author":"Splawski","year":"2005","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20170522222154_EUU063C7","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1161\/CIRCGENETICS.113.000138","article-title":"Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome","volume":"6","author":"Boczek","year":"2013","journal-title":"Circ Cardiovasc Genet"},{"key":"key\n\t\t\t\t20170522222154_EUU063C8","doi-asserted-by":"crossref","first-page":"1799","DOI":"10.1253\/circj.CJ-12-1457","article-title":"L-type calcium channel mutations in Japanese patients with inherited arrhythmias","volume":"77","author":"Fukuyama","year":"2013","journal-title":"Circ J"},{"key":"key\n\t\t\t\t20170522222154_EUU063C9","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1016\/0002-8703(85)90626-X","article-title":"Idiopathic long QT syndrome: progress and questions","volume":"109","author":"Schwartz","year":"1985","journal-title":"Am Heart J"},{"key":"key\n\t\t\t\t20170522222154_EUU063C10","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1161\/01.CIR.88.2.782","article-title":"Diagnostic criteria for the long QT syndrome. An update","volume":"88","author":"Schwartz","year":"1993","journal-title":"Circulation"},{"key":"key\n\t\t\t\t20170522222154_EUU063C11","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1093\/europace\/eut272","article-title":"Executive summary: HRS\/EHRA\/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes","volume":"15","author":"Priori","year":"2013","journal-title":"Europace"},{"key":"key\n\t\t\t\t20170522222154_EUU063C12","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.cca.2010.09.013","article-title":"Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome","volume":"412","author":"Millat","year":"2011","journal-title":"Clin Chim Acta"},{"key":"key\n\t\t\t\t20170522222154_EUU063C13","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1002\/humu.21599","article-title":"Mutational spectrum in the Ca(2+)\u2014activated cation channel gene TRPM4 in patients with cardiac conductance disturbances","volume":"33","author":"Stallmeyer","year":"2012","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20170522222154_EUU063C14","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1093\/europace\/euq104","article-title":"Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia\/cardiomyopathy: spectrum of mutations and clinical impact in practice","volume":"12","author":"Fressart","year":"2010","journal-title":"Europace"},{"key":"key\n\t\t\t\t20170522222154_EUU063C15","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1161\/CIRCULATIONAHA.106.668392","article-title":"Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death","volume":"115","author":"Antzelevitch","year":"2007","journal-title":"Circulation"},{"key":"key\n\t\t\t\t20170522222154_EUU063C16","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1046\/j.1540-8167.2002.00698.x","article-title":"Prevention of ventricular fibrillation by cilostazol, an oral phosphodiesterase inhibitor, in a patient with Brugada syndrome","volume":"13","author":"Tsuchiya","year":"2002","journal-title":"J Cardiovasc Electrophysiol"},{"key":"key\n\t\t\t\t20170522222154_EUU063C17","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1161\/CIRCRESAHA.110.224279","article-title":"Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel","volume":"108","author":"Napolitano","year":"2011","journal-title":"Circ Res"},{"key":"key\n\t\t\t\t20170522222154_EUU063C18","doi-asserted-by":"crossref","first-page":"1866","DOI":"10.1056\/NEJMoa022147","article-title":"Risk stratification in the long-QT syndrome","volume":"348","author":"Priori","year":"2003","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t20170522222154_EUU063C19","doi-asserted-by":"crossref","first-page":"1698","DOI":"10.1016\/j.hrthm.2011.05.018","article-title":"The diagnostic utility of recovery phase QTc during treadmill exercise stress testing in the evaluation of long QT syndrome","volume":"8","author":"Horner","year":"2011","journal-title":"Heart Rhythm"}],"container-title":["EP Europace"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/europace\/article-pdf\/16\/12\/1828\/17428111\/euu063.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,22]],"date-time":"2017-08-22T20:31:04Z","timestamp":1503433864000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/europace\/article-lookup\/doi\/10.1093\/europace\/euu063"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,12]]},"references-count":19,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2014,4,12]]},"published-print":{"date-parts":[[2014,12]]}},"URL":"https:\/\/doi.org\/10.1093\/europace\/euu063","relation":{},"ISSN":["1532-2092","1099-5129"],"issn-type":[{"value":"1532-2092","type":"electronic"},{"value":"1099-5129","type":"print"}],"subject":[],"published":{"date-parts":[[2014,4,12]]}}}