{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T00:36:58Z","timestamp":1760315818785,"version":"build-2065373602"},"reference-count":36,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2017,7,1]],"date-time":"2017-07-01T00:00:00Z","timestamp":1498867200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,7,1]],"date-time":"2017-07-01T00:00:00Z","timestamp":1498867200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100000646","name":"JSPS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000646","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labor and Welfare of Japan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005072","name":"Japanese Circulation Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005072","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","journal-of-cardiology.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Cardiology"],"published-print":{"date-parts":[[2017,7]]},"DOI":"10.1016\/j.jjcc.2016.09.010","type":"journal-article","created":{"date-parts":[[2016,11,3]],"date-time":"2016-11-03T02:00:19Z","timestamp":1478138419000},"page":"74-79","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano\u2013Ward syndrome under double mutations and acquired long QT syndrome under heterozygote"],"prefix":"10.1016","volume":"70","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3572-0836","authenticated-orcid":false,"given":"Yusuke","family":"Fujii","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenshi","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Guang","family":"Ding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukinori","family":"Tomita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisuke","family":"Fukumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuko","family":"Wada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mari","family":"Ichikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Sonoda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junichi","family":"Ozawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeru","family":"Makiyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seiko","family":"Ohno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masakazu","family":"Yamagishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Matsuura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minoru","family":"Horie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideki","family":"Itoh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"Suppl. A","key":"10.1016\/j.jjcc.2016.09.010_bib0185","doi-asserted-by":"crossref","first-page":"A50","DOI":"10.1253\/circj.71.A50","article-title":"Disorders of cardiac repolarization: long QT and short QT syndromes","volume":"71","author":"Horie","year":"2007","journal-title":"Circ J"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0190","doi-asserted-by":"crossref","first-page":"2827","DOI":"10.1253\/circj.CJ-14-0905","article-title":"Genetic and clinical advances in congenital long QT syndrome","volume":"78","author":"Mizusawa","year":"2014","journal-title":"Circ J"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0195","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1161\/01.CIR.103.1.89","article-title":"Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias","volume":"103","author":"Schwartz","year":"2001","journal-title":"Circulation"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0200","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1111\/j.1540-8167.2000.tb00178.x","article-title":"Hypokalemia-induced long QT syndrome with an underlying novel missense mutation in S4-S5 linker of KCNQ1","volume":"11","author":"Kubota","year":"2000","journal-title":"J Cardiovasc Electrophysiol"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0205","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1161\/CIRCEP.109.862649","article-title":"Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome","volume":"2","author":"Itoh","year":"2009","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0210","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.jjcc.2014.10.004","article-title":"Intravenous amiodarone homogeneously prolongs ventricular repolarization in patients with life-threatening ventricular tachyarrhythmia","volume":"66","author":"Kotake","year":"2015","journal-title":"J Cardiol"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0215","doi-asserted-by":"crossref","first-page":"2562","DOI":"10.1253\/circj.CJ-10-0498","article-title":"Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome","volume":"74","author":"Oka","year":"2010","journal-title":"Circ J"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0220","doi-asserted-by":"crossref","first-page":"2778","DOI":"10.1161\/01.CIR.96.9.2778","article-title":"KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome","volume":"96","author":"Donger","year":"1997","journal-title":"Circulation"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0225","doi-asserted-by":"crossref","first-page":"1464","DOI":"10.1161\/01.CIR.99.11.1464","article-title":"C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence","volume":"99","author":"Berthet","year":"1999","journal-title":"Circulation"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0230","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1161\/01.CIR.0000027139.42087.B6","article-title":"Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation","volume":"106","author":"Makita","year":"2002","journal-title":"Circulation"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0235","doi-asserted-by":"crossref","first-page":"10613","DOI":"10.1073\/pnas.180223197","article-title":"A common polymorphism associated with antibiotic-induced cardiac arrhythmia","volume":"97","author":"Sesti","year":"2000","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0240","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1111\/j.1540-8167.2000.tb00033.x","article-title":"Evidence for a cardiac ion channel mutation underlying drug-induced QT prolongation and life-threatening arrhythmias","volume":"11","author":"Napolitano","year":"2000","journal-title":"J Cardiovasc Electrophysiol"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0245","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1093\/eurheartj\/ehv695","article-title":"The genetics underlying acquired long QT syndrome: impact for genetic screening","volume":"37","author":"Itoh","year":"2016","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0250","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1007\/s00380-013-0406-2","article-title":"Congenital long QT syndrome with compound mutations in the KCNH2 gene","volume":"29","author":"Bando","year":"2014","journal-title":"Heart Vessels"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0255","first-page":"353","article-title":"An analysis of the time-relations of electrocardiograms","volume":"7","author":"Bazzet","year":"1920","journal-title":"Heart"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0260","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0265","doi-asserted-by":"crossref","first-page":"4364","DOI":"10.1093\/nar\/28.21.4364","article-title":"Analysis of canonical and non-canonical splice sites in mammalian genomes","volume":"28","author":"Burset","year":"2000","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0270","doi-asserted-by":"crossref","first-page":"1452","DOI":"10.1016\/j.bbadis.2011.07.011","article-title":"Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process","volume":"1812","author":"Tsuji-Wakisaka","year":"2011","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0275","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1016\/S0008-6363(01)00350-9","article-title":"A spectrum of functional effects for disease causing mutations in the Jervell and Lange\u2013Nielsen syndrome","volume":"51","author":"Huang","year":"2001","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0280","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1042\/BJ20111912","article-title":"Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel","volume":"443","author":"Harmer","year":"2012","journal-title":"Biochem J"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0285","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1042\/BJ20140425","article-title":"Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1","volume":"462","author":"Harmer","year":"2014","journal-title":"Biochem J"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0290","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1016\/j.jacc.2013.08.1648","article-title":"A molecular mechanism for adrenergic-induced long QT syndrome","volume":"63","author":"Wu","year":"2014","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0295","doi-asserted-by":"crossref","first-page":"2769","DOI":"10.1161\/CIRCULATIONAHA.105.532614","article-title":"Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study","volume":"112","author":"Coronel","year":"2005","journal-title":"Circulation"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0300","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.jjcc.2014.05.008","article-title":"Relationships between the QTc interval and cardiovascular, stroke, or sudden cardiac mortality in the general Japanese population","volume":"65","author":"Ishikawa","year":"2015","journal-title":"J Cardiol"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0305","first-page":"2246","article-title":"Mechanisms of cardiac arrhythmias and sudden death in transgenic rabbits with long QT syndrome","volume":"118","author":"Brunner","year":"2008","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0310","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1093\/eurheartj\/eht067","article-title":"Allele-specific RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes","volume":"35","author":"Matsa","year":"2014","journal-title":"Eur Heart J"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0315","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1016\/S0002-9149(99)00458-0","article-title":"Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome","volume":"84","author":"Moss","year":"1999","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0320","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1016\/j.hrthm.2009.02.045","article-title":"Adrenergic regulation of the rapid component of delayed rectifier K+ current: implications for arrhythmogenesis in LQT2 patients","volume":"6","author":"Zankov","year":"2009","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0325","doi-asserted-by":"crossref","first-page":"2459","DOI":"10.1113\/JP270526","article-title":"Predicting drug-induced QT prolongation and torsades de pointes","volume":"594","author":"Roden","year":"2016","journal-title":"J Physiol"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0330","doi-asserted-by":"crossref","first-page":"2052","DOI":"10.1016\/j.jacc.2009.08.028","article-title":"Genotype-phenotype aspects of type 2 long QT syndrome","volume":"54","author":"Shimizu","year":"2009","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0335","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1111\/j.1540-8167.2008.01138.x","article-title":"Age- and genotype-specific triggers for life-threatening arrhythmia in the genotyped long QT syndrome","volume":"19","author":"Sakaguchi","year":"2008","journal-title":"J Cardiovasc Electrophysiol"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0340","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1016\/j.hrthm.2010.06.013","article-title":"Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study","volume":"7","author":"Itoh","year":"2010","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0345","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/j.hrthm.2005.01.020","article-title":"Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing","volume":"2","author":"Tester","year":"2005","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0350","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1038\/ejhg.2015.257","article-title":"Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction","volume":"24","author":"Itoh","year":"2016","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0355","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1016\/j.hrthm.2009.05.021","article-title":"Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test","volume":"6","author":"Kapplinger","year":"2009","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.jjcc.2016.09.010_bib0360","doi-asserted-by":"crossref","first-page":"2026","DOI":"10.1253\/circj.CJ-15-0342","article-title":"A common mutation of long QT syndrome type 1 in Japan","volume":"79","author":"Itoh","year":"2015","journal-title":"Circ J"}],"container-title":["Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0914508716302192?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0914508716302192?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T12:57:02Z","timestamp":1760273822000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0914508716302192"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7]]},"references-count":36,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["S0914508716302192"],"URL":"https:\/\/doi.org\/10.1016\/j.jjcc.2016.09.010","relation":{},"ISSN":["0914-5087"],"issn-type":[{"type":"print","value":"0914-5087"}],"subject":[],"published":{"date-parts":[[2017,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano\u2013Ward syndrome under double mutations and acquired long QT syndrome under heterozygote","name":"articletitle","label":"Article Title"},{"value":"Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jjcc.2016.09.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}