{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T19:54:47Z","timestamp":1791575687819,"version":"4.3.4"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2006,12,14]],"date-time":"2006-12-14T00:00:00Z","timestamp":1166054400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[2007,7,19]]},"DOI":"10.1007\/s00431-006-0346-2","type":"journal-article","created":{"date-parts":[[2006,12,13]],"date-time":"2006-12-13T09:09:37Z","timestamp":1166000977000},"page":"927-933","source":"Crossref","is-referenced-by-count":15,"title":["A missense mutation (G604S) in the S5\/pore region of HERG causes long QT syndrome in a Chinese family with a high incidence of sudden unexpected death"],"prefix":"10.1007","volume":"166","author":[{"given":"Yanmin","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nan","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenhui","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongmei","family":"Wan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zenghui","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher L.-H.","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew A.","family":"Grace","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aiqun","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,12,14]]},"reference":[{"key":"346_CR1","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.spen.2005.02.002","volume":"12","author":"MJ Ackerman","year":"2005","unstructured":"Ackerman MJ (2005) Cardiac causes of sudden unexpected death in children and their relationship to seizures and syncope: genetic testing for cardiac electropathies. Semin Pediatr Neurol 12:52\u201358","journal-title":"Semin Pediatr Neurol"},{"key":"346_CR2","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1016\/0092-8674(95)90358-5","volume":"80","author":"ME Curran","year":"1995","unstructured":"Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT (1995) A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 80:795\u2013803","journal-title":"Cell"},{"key":"346_CR3","doi-asserted-by":"crossref","first-page":"1609","DOI":"10.1006\/jmcc.1996.0151","volume":"28","author":"E Dausse","year":"1996","unstructured":"Dausse E, Berthet M, Denjoy I, Andre-Fouet X, Cruaud C, Bennaceur M, Faure S, Coumel P, Schwartz K, Guicheney P (1996) A mutation in HERG associated with notched T-waves in long-QT syndrome. J Mol Cell Cardiol 28:1609 \u20131615","journal-title":"J Mol Cell Cardiol"},{"key":"346_CR4","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1046\/j.1540-8167.2000.01413.x","volume":"11","author":"CT January","year":"2000","unstructured":"January CT, Gong Q, Zhou Z (2000) Long-QT syndrome: cellular basis and arrhythmia mechanism in LQT2. J Cardiovasc Electrophysiol 11:1413\u20131418","journal-title":"J Cardiovas Electrophysiol"},{"key":"346_CR5","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/(SICI)1098-1004(1999)13:4<301::AID-HUMU7>3.0.CO;2-V","volume":"13","author":"RJ Jongbloed","year":"1999","unstructured":"Jongbloed RJ, Wilde AA, Geelen JL, Doevendans P, Schaap C, Van Langen I, van Tintelen JP, Cobben JM, Beaufort-Krol GC, Geraedts JP, Smeets HJ (1999) Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. Hum Mutat 13: 301\u2013310.","journal-title":"Hum Mutat"},{"key":"346_CR6","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1038\/nature01335","volume":"421","author":"PJ Mohler","year":"2003","unstructured":"Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song LS, Haurogne K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H, Bennett V (2003) Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 421:634\u2013639","journal-title":"Nature"},{"key":"346_CR7","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1016\/S0002-9149(99)00458-0","volume":"84","author":"AJ Moss","year":"1999","unstructured":"Moss AJ, Robinson JL, Gessman L, Gillespie R, Zareba W, Schwartz PJ, Vincent GM, Benhorin J, Heilbron EL, Towbin JA, Priori SG, Napolitano, Zhang L, Medina A, Andrews ML, Timothy K (1999) Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome. Am J Cardiol 84:876\u2013879","journal-title":"Am J Cardiol"},{"key":"346_CR8","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1161\/01.CIR.84.3.1136","volume":"84","author":"AJ Moss","year":"1991","unstructured":"Moss AJ, Schwartz PJ, Crampton RS, Tzivoni D, Locati EH, MacCluer J, Hall WJ, Weitkamp L, Vincent GM, Garson A Jr, Robinson JL, Benhorin J, Choi S (1991) The long QT syndrome: prospective longitudinal study of 328 families. Circulation 84:1136 \u20131144","journal-title":"Circulation"},{"key":"346_CR9","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1161\/hc0702.105124","volume":"105","author":"AJ Moss","year":"2002","unstructured":"Moss AJ, Zareba W, Kaufman ES, Gartman E, Peterson DR, Benhorin J, Towbin JA, Keating MT, Priori SG, Schwartz PJ, Vincent GM, Robinson JL, Andrews ML, Feng C,Hall WJ, Medina A, Zhang L, Wang Z (2002) Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation 105:794\u2013799","journal-title":"Circulation"},{"key":"346_CR10","doi-asserted-by":"crossref","first-page":"48610","DOI":"10.1074\/jbc.M206569200","volume":"277","author":"A Paulussen","year":"2002","unstructured":"Paulussen A, Raes A, Matthijs G, Snyders DJ, Cohen N, Aerssens J (2002) A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. J Biol Chem 277: 48610\u201348616","journal-title":"J Biol Chem"},{"key":"346_CR11","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/S0008-6363(99)00224-2","volume":"44","author":"DM Roden","year":"1999","unstructured":"Roden DM, Balser JR (1999) A plethora of mechanisms in the HERG-related long-QT syndrome: genetics meets electrophysiology. Cardiovasc Res 44:242\u2013246","journal-title":"Cardiovasc Res"},{"key":"346_CR12","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/0092-8674(95)90340-2","volume":"81","author":"MC Sanguinetti","year":"1995","unstructured":"Sanguinetti MC, Jiang C, Curran ME, Keating MT (1995) A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the Ikr potassium channel. Cell 81:299\u2013307","journal-title":"Cell"},{"key":"346_CR13","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1161\/01.CIR.103.1.89","volume":"103","author":"PJ Schwartz","year":"2001","unstructured":"Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napolitano C, Denjoy I, Guicheney P, Breithardt G, Keating MT, Towbin JA, Beggs AH, Brink P, Wilde AA, Toivonen L, Zareba W, Robinson JL, Timothy KW, Corfield V, Wattanasirichaigoon D, Corbett C, Haverkamp W, Schulze-Bahr E, Lehmann MH, Schwartz K, Coumel P, Bloise R (2001) Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 103:89\u201395","journal-title":"Circulation"},{"key":"346_CR14","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1006\/geno.1998.5361","volume":"51","author":"I Splawski","year":"1998","unstructured":"Splawski I, Shen J, Timothy KW, Vincent GM, Lehmann MH, Keating MT (1998) Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics 51:86\u201397","journal-title":"Genomics"},{"key":"346_CR15","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1161\/01.CIR.102.10.1178","volume":"102","author":"I Splawski","year":"2000","unstructured":"Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT (2000) Spectrum of mutations in long-qt syndrome genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 102:1178\u20131185","journal-title":"Circulation"},{"key":"346_CR16","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1038\/ng1197-338","volume":"17","author":"I Splawski","year":"1997","unstructured":"Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT (1997) Mutations in the hmink gene cause long QT syndrome and suppress IKs function. Nat Genet 17:338 \u2013340","journal-title":"Nat Genet"},{"key":"346_CR17","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.cell.2004.09.011","volume":"119","author":"I Splawski","year":"2004","unstructured":"Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-FlusbergH, Priori SG, Sanguinetti MC, Keating MT (2004) Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 119:19 \u201331","journal-title":"Cell"},{"key":"346_CR18","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1136\/jmg.38.10.705","volume":"38","author":"P Syrris","year":"2001","unstructured":"Syrris P, Murray A, Carter ND, McKenna WM, Jeffery S (2001) Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions. J Med Genet 38:705\u2013710","journal-title":"J Med Genet"},{"key":"346_CR19","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1016\/0092-8674(95)90359-3","volume":"80","author":"Q Wang","year":"1995","unstructured":"Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA,Keating MT (1995) SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80:805\u2013811","journal-title":"Cell"},{"key":"346_CR20","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/ng0196-17","volume":"12","author":"Q Wang","year":"1996","unstructured":"Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Towbin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating MT (1996) Positional cloning of a novel potassium channel gene: KvLQT1 mutations cause cardiac arrhythmias. Nat Genet 12:17\u201323","journal-title":"Nat Genet"},{"key":"346_CR21","doi-asserted-by":"crossref","first-page":"2849","DOI":"10.1161\/01.CIR.102.23.2849","volume":"102","author":"L Zhang","year":"2000","unstructured":"Zhang L, Timothy KW, Vincent GM, Lehmann MH, Fox J, Giuli LC, Shen J, Splawski I, Priori SG, Compton SJ, Yanowitz F, Benhorin J, Moss AJ, Schwartz PJ, Robinson JL, Wang Q, Zareba W, Keating MT, Towbin JA, Napolitano C, Medina A (2000) Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-qt syndrome: ECG findings identify genotypes. Circulation 102:2849\u20132855","journal-title":"Circulation"},{"key":"346_CR22","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1007\/s00431-006-0157-5","volume":"165","author":"X Zhou","year":"2006","unstructured":"Zhou X, Ma A, Liu X, Huang C, Zhang Y, Shi R, Mao S, Geng T, Li S (2006). Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2. Eur J Pediatr 165:691\u2013695","journal-title":"Eur J Pediatr"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-006-0346-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00431-006-0346-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-006-0346-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T22:25:53Z","timestamp":1559082353000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00431-006-0346-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12,14]]},"references-count":22,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2007,7,19]]}},"alternative-id":["346"],"URL":"https:\/\/doi.org\/10.1007\/s00431-006-0346-2","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,12,14]]}}}