{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T16:24:22Z","timestamp":1775751862119,"version":"3.50.1"},"reference-count":47,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2007,10,1]],"date-time":"2007-10-01T00:00:00Z","timestamp":1191196800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2007,10,1]],"date-time":"2007-10-01T00:00:00Z","timestamp":1191196800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100003449","name":"Green Lane Research and Educational Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004374","name":"Medtronic","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004374","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001523","name":"Lion Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001523","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","heartrhythmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Heart Rhythm"],"published-print":{"date-parts":[[2007,10]]},"DOI":"10.1016\/j.hrthm.2007.06.022","type":"journal-article","created":{"date-parts":[[2007,7,17]],"date-time":"2007-07-17T07:22:42Z","timestamp":1184656962000},"page":"1306-1314","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":39,"title":["Long QT and Brugada syndrome gene mutations in New Zealand"],"prefix":"10.1016","volume":"4","author":[{"given":"Seo-Kyung","family":"Chung","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith M.","family":"MacCormick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline H.","family":"McCulley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jackie","family":"Crawford","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carey-Anne","family":"Eddy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edwin A.","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew N.","family":"Shelling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John K.","family":"French","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan R.","family":"Skinner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark I.","family":"Rees","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.hrthm.2007.06.022_bib1","doi-asserted-by":"crossref","first-page":"250","DOI":"10.4065\/73.3.250","article-title":"The long QT syndrome: ion channel diseases of the heart","volume":"73","author":"Ackerman","year":"1998","journal-title":"Mayo Clin Proc"},{"key":"10.1016\/j.hrthm.2007.06.022_bib2","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/0002-8703(57)90079-0","article-title":"Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death","volume":"54","author":"Jervell","year":"1957","journal-title":"Am Heart J"},{"key":"10.1016\/j.hrthm.2007.06.022_bib3","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.spen.2004.11.008","article-title":"The long QT and Brugada syndromes: causes of unexpected syncope and sudden cardiac death in children and young adults","volume":"12","author":"Vincent","year":"2005","journal-title":"Semin Pediatr Neurol"},{"key":"10.1016\/j.hrthm.2007.06.022_bib4","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.cardiores.2004.02.011","article-title":"New KCNQ1 mutations leading to haploinsufficiency in a general population; defective trafficking of a KvLQT1 mutant","volume":"63","author":"Gouas","year":"2004","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.hrthm.2007.06.022_bib5","doi-asserted-by":"crossref","first-page":"981","DOI":"10.7326\/0003-4819-137-12-200212170-00012","article-title":"Novel insights in the congenital long QT syndrome","volume":"137","author":"Wehrens","year":"2002","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.hrthm.2007.06.022_bib6","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1002\/humu.9085","article-title":"KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population","volume":"20","author":"Liu","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1016\/j.hrthm.2007.06.022_bib7","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.hrthm.2007.06.022_bib8","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.hrthm.2007.06.022_bib9","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1111\/j.1365-2796.2005.01583.x","article-title":"The congenital long QT syndromes from genotype to phenotype: clinical implications","volume":"259","author":"Schwartz","year":"2006","journal-title":"J Intern Med"},{"key":"10.1016\/j.hrthm.2007.06.022_bib10","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1056\/NEJM199810013391404","article-title":"Influence of genotype on the clinical course of the long-QT syndrome","volume":"339","author":"Zareba","year":"1998","journal-title":"N Engl J Med"},{"key":"10.1016\/j.hrthm.2007.06.022_bib11","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/32675","article-title":"Genetic basis and molecular mechanism for idiopathic ventricular fibrillation","volume":"392","author":"Chen","year":"1998","journal-title":"Nature"},{"key":"10.1016\/j.hrthm.2007.06.022_bib12","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1093\/hmg\/11.3.337","article-title":"Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome","volume":"11","author":"Vatta","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.hrthm.2007.06.022_bib13","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.1136\/bmj.1.6074.1454","article-title":"Cardiac arrhythmias that masquerade as epilepsy","volume":"1","author":"Schott","year":"1977","journal-title":"BMJ"},{"key":"10.1016\/j.hrthm.2007.06.022_bib14","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1056\/NEJM200007273430405","article-title":"A molecular link between the sudden infant death syndrome and the long QT syndrome","volume":"343","author":"Schwartz","year":"2000","journal-title":"N Engl J Med"},{"key":"10.1016\/j.hrthm.2007.06.022_bib15","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1172\/JCI200318062","article-title":"Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)","volume":"112","author":"Benson","year":"2003","journal-title":"J Clin Invest"},{"key":"10.1016\/j.hrthm.2007.06.022_bib16","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.1161\/01.CIR.0000144458.58660.BB","article-title":"SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia","volume":"110","author":"McNair","year":"2004","journal-title":"Circulation"},{"key":"10.1016\/j.hrthm.2007.06.022_bib17","doi-asserted-by":"crossref","first-page":"2975","DOI":"10.1001\/jama.294.23.2975","article-title":"Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice","volume":"294","author":"Napolitano","year":"2005","journal-title":"JAMA"},{"key":"10.1016\/j.hrthm.2007.06.022_bib18","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1161\/01.CIR.102.10.1178","article-title":"Spectrum of mutations in long QT syndrome genes","volume":"102","author":"Splawski","year":"2000","journal-title":"Circulation"},{"key":"10.1016\/j.hrthm.2007.06.022_bib19","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1006\/geno.1998.5361","article-title":"Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1","volume":"51","author":"Splawski","year":"1998","journal-title":"Genomics"},{"key":"10.1016\/j.hrthm.2007.06.022_bib20","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1136\/jmg.38.10.705","article-title":"Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions","volume":"38","author":"Syrris","year":"2001","journal-title":"J Med Genet"},{"key":"10.1016\/j.hrthm.2007.06.022_bib21","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.hrthm.2005.02.011","article-title":"Inaccurate electrocardiographic interpretation of long QT: the majority of physicians cannot recognize a long QT when they see one","volume":"2","author":"Viskin","year":"2005","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2007.06.022_bib22","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1016\/j.hrthm.2004.07.013","article-title":"Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada\/long QT syndrome genetic testing","volume":"1","author":"Ackerman","year":"2004","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2007.06.022_bib23","doi-asserted-by":"crossref","first-page":"e7","DOI":"10.1136\/jmg.2004.027995","article-title":"R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese","volume":"42","author":"Hwang","year":"2005","journal-title":"J Med Genet"},{"key":"10.1016\/j.hrthm.2007.06.022_bib24","first-page":"309","article-title":"Nav1.5\/R1193Q polymorphism is associated with both long QT and Brugada syndromes","volume":"22","author":"Huang","year":"2006","journal-title":"Can J Cardiol"},{"key":"10.1016\/j.hrthm.2007.06.022_bib25","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1016\/j.hrthm.2005.08.026","article-title":"Cost-effectiveness analysis of genetic testing for familial long QT syndrome in symptomatic index cases","volume":"2","author":"Phillips","year":"2005","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.hrthm.2007.06.022_bib26","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1002\/humu.10131","article-title":"DHPLC analysis of potassium ion channel genes in congenital long QT syndrome","volume":"20","author":"Jongbloed","year":"2002","journal-title":"Hum Mutat"},{"issue":"suppl 1","key":"10.1016\/j.hrthm.2007.06.022_bib27","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1080\/17431380410032689","article-title":"Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland","volume":"36","author":"Fodstad","year":"2004","journal-title":"Ann Med"},{"key":"10.1016\/j.hrthm.2007.06.022_bib28","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1136\/jmg.40.2.141","article-title":"The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome","volume":"40","author":"Van Langen","year":"2003","journal-title":"J Med Genet"},{"key":"10.1016\/j.hrthm.2007.06.022_bib29","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/S0735-1097(03)00554-0","article-title":"Modulating effects of age and gender on the clinical course of long QT syndrome by genotype","volume":"42","author":"Zareba","year":"2003","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.hrthm.2007.06.022_bib30","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1161\/01.CIR.0000125524.34234.13","article-title":"Compound mutations: a common cause of severe long-QT syndrome","volume":"109","author":"Westenskow","year":"2004","journal-title":"Circulation"},{"key":"10.1016\/j.hrthm.2007.06.022_bib31","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion","volume":"15","author":"den Dunnen","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1016\/j.hrthm.2007.06.022_bib32","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.hrthm.2007.06.022_bib33","doi-asserted-by":"crossref","first-page":"1562","DOI":"10.1056\/NEJM199705293362204","article-title":"Molecular basis of the long-QT syndrome associated with deafness","volume":"336","author":"Splawski","year":"1997","journal-title":"N Engl J Med"},{"key":"10.1016\/j.hrthm.2007.06.022_bib34","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1056\/NEJM199910073411504","article-title":"Molecular diagnosis of the inherited long QT syndrome in a woman who died after near drowning","volume":"341","author":"Ackerman","year":"1999","journal-title":"N Engl J Med"},{"key":"10.1016\/j.hrthm.2007.06.022_bib35","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1034\/j.1399-0004.2003.00048.x","article-title":"KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death","volume":"63","author":"Chen","year":"2003","journal-title":"Clin Genet"},{"key":"10.1016\/j.hrthm.2007.06.022_bib36","doi-asserted-by":"crossref","first-page":"2119","DOI":"10.1161\/01.CIR.0000144471.98080.CA","article-title":"Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes","volume":"110","author":"Choi","year":"2004","journal-title":"Circulation"},{"key":"10.1016\/j.hrthm.2007.06.022_bib37","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1016\/j.jacc.2003.09.049","article-title":"Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations","volume":"43","author":"Lupoglazoff","year":"2004","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.hrthm.2007.06.022_bib38","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1161\/01.CIR.95.3.565","article-title":"Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome","volume":"95","author":"Tanaka","year":"1997","journal-title":"Circulation"},{"key":"10.1016\/j.hrthm.2007.06.022_bib39","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1038\/sj.ejhg.5200323","article-title":"Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene","volume":"7","author":"Larsen","year":"1999","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.hrthm.2007.06.022_bib40","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1161\/01.CIR.84.3.1136","article-title":"The long QT syndrome","volume":"84","author":"Moss","year":"1991","journal-title":"Circulation"},{"key":"10.1016\/j.hrthm.2007.06.022_bib41","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1046\/j.1542-474X.2003.08313.x","article-title":"Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome)","volume":"8","author":"Ning","year":"2003","journal-title":"Ann Noninvasive Electrocardiol"},{"key":"10.1016\/j.hrthm.2007.06.022_bib42","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1007\/s004390050717","article-title":"Genomic organisation and mutational analysis of HERG, a gene responsible for familial long QT syndrome","volume":"102","author":"Itoh","year":"1998","journal-title":"Hum Genet"},{"key":"10.1016\/j.hrthm.2007.06.022_bib43","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/S0008-6363(99)00195-9","article-title":"Voltage shift of the current activation in HERG S4 mutation (R534C) in LQT2","volume":"44","author":"Nakajima","year":"1999","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.hrthm.2007.06.022_bib44","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1161\/01.CIR.103.8.1095","article-title":"Notched T waves on Holter recordings enhance detection of patients with LQT2 (HERG) mutations","volume":"103","author":"Lupoglazoff","year":"2001","journal-title":"Circulation"},{"key":"10.1016\/j.hrthm.2007.06.022_bib45","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1111\/j.1440-1754.2004.00498.x","article-title":"Use of the newborn screening card to define cause of death in a 12-year-old diagnosed with epilepsy","volume":"40","author":"Skinner","year":"2004","journal-title":"J Paediatr Child Health"},{"key":"10.1016\/j.hrthm.2007.06.022_bib46","doi-asserted-by":"crossref","first-page":"1603","DOI":"10.1093\/hmg\/4.9.1603","article-title":"Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia","volume":"4","author":"Wang","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.hrthm.2007.06.022_bib47","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1152\/physiolgenomics.00039.2002","article-title":"A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction","volume":"10","author":"Rivolta","year":"2002","journal-title":"Physiol Genomics"}],"container-title":["Heart Rhythm"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1547527107007035?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1547527107007035?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T06:37:43Z","timestamp":1761547063000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1547527107007035"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10]]},"references-count":47,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2007,10]]}},"alternative-id":["S1547527107007035"],"URL":"https:\/\/doi.org\/10.1016\/j.hrthm.2007.06.022","relation":{},"ISSN":["1547-5271"],"issn-type":[{"value":"1547-5271","type":"print"}],"subject":[],"published":{"date-parts":[[2007,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Long QT and Brugada syndrome gene mutations in New Zealand","name":"articletitle","label":"Article Title"},{"value":"Heart Rhythm","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.hrthm.2007.06.022","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}