{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:30:09Z","timestamp":1791275409393,"version":"4.1.0"},"reference-count":175,"publisher":"Hindawi Limited","issue":"9","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":2191,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2009,9]]},"DOI":"10.1002\/humu.21066","type":"journal-article","created":{"date-parts":[[2009,6,16]],"date-time":"2009-06-16T16:45:02Z","timestamp":1245170702000},"page":"1256-1266","source":"Crossref","is-referenced-by-count":135,"title":["The genetic basis of Brugada syndrome: A mutation update"],"prefix":"10.1155","volume":"30","author":[{"given":"Paula L.","family":"Hedley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Poul","family":"J\u00c3\u00b8rgensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Schlamowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Moolman-Smook","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00c3\u00b8rgen K.","family":"Kanters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie A.","family":"Corfield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Christiansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","reference":[{"key":"10.1002\/humu.21066-BIB1","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/S0092-8674(01)00207-0","article-title":"MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis","volume":"104","author":"Abbott","year":"2001","journal-title":"Cell"},{"key":"10.1002\/humu.21066-BIB2","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1161\/hh1001.091869","article-title":"Do all voltage-gated potassium channels use MiRPs?","volume":"88","author":"Abbott","year":"2001","journal-title":"Circ Res"},{"key":"10.1002\/humu.21066-BIB3","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1096\/fj.01-0520hyp","article-title":"Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism","volume":"16","author":"Abbott","year":"2002","journal-title":"FASEB J"},{"key":"10.1002\/humu.21066-BIB4","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/S0092-8674(00)80728-X","article-title":"MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia","volume":"97","author":"Abbott","year":"1999","journal-title":"Cell"},{"key":"10.1002\/humu.21066-BIB5","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":"10.1002\/humu.21066-BIB6","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/S0014-5793(00)01875-5","article-title":"A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome","volume":"479","author":"Akai","year":"2000","journal-title":"FEBS Lett"},{"key":"10.1002\/humu.21066-BIB7","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1161\/01.CIR.99.5.666","article-title":"\u00e2\u0080\u009cBrugada\u00e2\u0080\u009d syndrome: clinical data and suggested pathophysiological mechanism","volume":"99","author":"Alings","year":"1999","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB8","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1007\/s004240050628","article-title":"Effects of temperature on human L-type cardiac Ca2+channels expressed in Xenopus oocytes","volume":"436","author":"Allen","year":"1998","journal-title":"Pflugers Arch"},{"key":"10.1002\/humu.21066-BIB9","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1111\/j.1365-201X.2005.01496.x","article-title":"Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties","volume":"185","author":"Amin","year":"2005","journal-title":"Acta Physiol Scand"},{"key":"10.1002\/humu.21066-BIB10","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1111\/j.1540-8167.1998.tb01844.x","article-title":"The Brugada syndrome","volume":"9","author":"Antzelevitch","year":"1998","journal-title":"J Cardiovasc Electrophysiol"},{"key":"10.1002\/humu.21066-BIB11","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1046\/j.1540-8167.2001.00268.x","article-title":"The Brugada syndrome: ionic basis and arrhythmia mechanisms","volume":"12","author":"Antzelevitch","year":"2001","journal-title":"J Cardiovasc Electrophysiol"},{"key":"10.1002\/humu.21066-BIB12","first-page":"3","article-title":"Cardiac repolarization","volume":"7","author":"Antzelevitch","year":"2005","journal-title":"The long and short of it. Europace"},{"key":"10.1002\/humu.21066-BIB13","doi-asserted-by":"crossref","first-page":"1537","DOI":"10.1046\/j.1460-9592.2002.01537.x","article-title":"Fever and Brugada syndrome","volume":"25","author":"Antzelevitch","year":"2002","journal-title":"Pacing Clin Electrophysiol"},{"key":"10.1002\/humu.21066-BIB14","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/j.hrthm.2005.01.005","article-title":"Brugada syndrome: report of the second consensus conference","volume":"2","author":"Antzelevitch","year":"2005","journal-title":"Heart Rhythm"},{"key":"10.1002\/humu.21066-BIB15","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1161\/01.RES.0000046046.53721.90","article-title":"Brugada syndrome: a decade of progress","volume":"91","author":"Antzelevitch","year":"2002","journal-title":"Circ Res"},{"key":"10.1002\/humu.21066-BIB16","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1016\/S0735-1097(03)00310-3","article-title":"Brugada syndrome: 1992\u00e2\u0080\u00932002: a historical perspective","volume":"41","author":"Antzelevitch","year":"2003","journal-title":"J Am Coll Cardiol"},{"key":"10.1002\/humu.21066-BIB17","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1007\/s11886-008-0060-y","article-title":"Brugada syndrome: recent advances and controversies","volume":"10","author":"Antzelevitch","year":"2008","journal-title":"Curr Cardiol Rep"},{"key":"10.1002\/humu.21066-BIB18","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":"10.1002\/humu.21066-BIB19","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1253\/circj.67.93","article-title":"Brugada syndrome with ventricular tachycardia and fibrillation related to hypokalemia","volume":"67","author":"Araki","year":"2003","journal-title":"Circ J"},{"key":"10.1002\/humu.21066-BIB20","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1161\/CIRCULATIONAHA.106.658021","article-title":"Prevalence of long-QT syndrome gene variants in sudden infant death syndrome","volume":"115","author":"Arnestad","year":"2007","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB21","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1006\/jmcc.2000.1346","article-title":"The cardiac sodium channel: gating function and molecular pharmacology","volume":"33","author":"Balser","year":"2001","journal-title":"J Mol Cell Cardiol"},{"key":"10.1002\/humu.21066-BIB22","doi-asserted-by":"crossref","first-page":"1670","DOI":"10.1093\/eurheartj\/ehn219","article-title":"Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families","volume":"29","author":"Behr","year":"2008","journal-title":"Eur Heart J"},{"key":"10.1002\/humu.21066-BIB23","doi-asserted-by":"crossref","first-page":"1731","DOI":"10.1161\/01.CIR.0000143159.30585.90","article-title":"Efficacy of quinidine in high-risk patients with Brugada syndrome","volume":"110","author":"Belhassen","year":"2004","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB24","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.cardiores.2005.02.014","article-title":"In vitro molecular interactions and distribution of KCNE family with KCNQ1 in the human heart","volume":"67","author":"Bendahhou","year":"2005","journal-title":"Cardiovasc Res"},{"key":"10.1002\/humu.21066-BIB25","doi-asserted-by":"crossref","DOI":"10.1007\/978-94-010-0658-3","volume-title":"Excitation-contraction coupling and cardiac contractile force","author":"Bers","year":"2001"},{"key":"10.1002\/humu.21066-BIB26","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.yjmcc.2004.05.026","article-title":"Macromolecular complexes regulating cardiac ryanodine receptor function","volume":"37","author":"Bers","year":"2004","journal-title":"J Mol Cell Cardiol"},{"key":"10.1002\/humu.21066-BIB27","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1161\/01.RES.85.12.1206","article-title":"A single Na(+) channel mutation causing both long-QT and Brugada syndromes","volume":"85","author":"Bezzina","year":"1999","journal-title":"Circ Res"},{"key":"10.1002\/humu.21066-BIB28","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1161\/01.RES.0000052672.97759.36","article-title":"Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system","volume":"92","author":"Bezzina","year":"2003","journal-title":"Circ Res"},{"key":"10.1002\/humu.21066-BIB29","first-page":"175","article-title":"[Prevalence of Brugada syndrome among 35,309 inhabitants of Lorraine screened at a preventive medicine centre]","volume":"98","author":"Blangy","year":"2005","journal-title":"Arch Mal Coeur Vaiss"},{"key":"10.1002\/humu.21066-BIB30","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1536\/ihj.47.541","article-title":"Frequency of Brugada-type ECG pattern (Brugada sign) in Southern Turkey","volume":"47","author":"Bozkurt","year":"2006","journal-title":"Int Heart J"},{"key":"10.1002\/humu.21066-BIB31","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1161\/hc0102.101354","article-title":"Long-term follow-up of individuals with the electrocardiographic pattern of right bundle-branch block and ST-segment elevation in precordial leads V1 to V3","volume":"105","author":"Brugada","year":"2002","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB32","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1054\/jelc.2000.20322","article-title":"Pharmacological and device approach to therapy of inherited cardiac diseases associated with cardiac arrhythmias and sudden death","volume":"33","author":"Brugada","year":"2000","journal-title":"J Electrocardiol"},{"key":"10.1002\/humu.21066-BIB33","doi-asserted-by":"crossref","first-page":"3092","DOI":"10.1161\/01.CIR.0000104568.13957.4F","article-title":"Determinants of sudden cardiac death in individuals with the electrocardiographic pattern of Brugada syndrome and no previous cardiac arrest","volume":"108","author":"Brugada","year":"2003","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB34","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1016\/0735-1097(92)90253-J","article-title":"Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report","volume":"20","author":"Brugada","year":"1992","journal-title":"J Am Coll Cardiol"},{"key":"10.1002\/humu.21066-BIB35","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1007\/s11886-000-0035-0","article-title":"The Brugada syndrome","volume":"2","author":"Brugada","year":"2000","journal-title":"Curr Cardiol Rep"},{"key":"10.1002\/humu.21066-BIB36","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1023\/A:1017978903909","article-title":"The Brugada syndrome","volume":"6","author":"Brugada","year":"2002","journal-title":"Card Electrophysiol Rev"},{"key":"10.1002\/humu.21066-BIB37","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1016\/0735-1097(94)90020-5","article-title":"Right ventricular outflow tract ventricular tachycardia: detection of previously unrecognized anatomic abnormalities using cine magnetic resonance imaging","volume":"24","author":"Carlson","year":"1994","journal-title":"J Am Coll Cardiol"},{"key":"10.1002\/humu.21066-BIB38","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1016\/j.cardiores.2007.08.005","article-title":"Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation","volume":"76","author":"Casini","year":"2007","journal-title":"Cardiovasc Res"},{"key":"10.1002\/humu.21066-BIB39","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1124\/pr.57.4.5","article-title":"International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels","volume":"57","author":"Catterall","year":"2005","journal-title":"Pharmacol Rev"},{"key":"10.1002\/humu.21066-BIB40","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/S0896-6273(00)80680-7","article-title":"Voltage sensors in domains III and IV, but not I and II, are immobilized by Na+channel fast inactivation","volume":"22","author":"Cha","year":"1999","journal-title":"Neuron"},{"key":"10.1002\/humu.21066-BIB41","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":"10.1002\/humu.21066-BIB42","doi-asserted-by":"crossref","first-page":"1306","DOI":"10.1016\/j.hrthm.2007.06.022","article-title":"Long QT and Brugada syndrome gene mutations in New Zealand","volume":"4","author":"Chung","year":"2007","journal-title":"Heart Rhythm"},{"key":"10.1002\/humu.21066-BIB43","doi-asserted-by":"crossref","first-page":"2026","DOI":"10.1161\/CIRCULATIONAHA.106.627489","article-title":"Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome","volume":"114","author":"Cordeiro","year":"2006","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB44","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1016\/j.yjmcc.2009.01.014","article-title":"Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome","volume":"46","author":"Cordeiro","year":"2009","journal-title":"J Mol Cell Cardiol"},{"key":"10.1002\/humu.21066-BIB45","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1046\/j.1460-9568.2002.02168.x","article-title":"Multiple determinants in voltage-dependent P\/Q calcium channels control their retention in the endoplasmic reticulum","volume":"16","author":"Cornet","year":"2002","journal-title":"Eur J Neurosci"},{"key":"10.1002\/humu.21066-BIB46","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1161\/CIRCULATIONAHA.107.757955","article-title":"Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation","volume":"117","author":"Darbar","year":"2008","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB47","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1161\/CIRCEP.107.748103","article-title":"Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome","volume":"1","author":"Delpon","year":"2008","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"10.1002\/humu.21066-BIB48","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/S0008-6363(00)00006-7","article-title":"Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes","volume":"46","author":"Deschenes","year":"2000","journal-title":"Cardiovasc Res"},{"key":"10.1002\/humu.21066-BIB49","doi-asserted-by":"crossref","first-page":"4881","DOI":"10.1210\/jc.2002-020698","article-title":"A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis","volume":"87","author":"Dias da Silva","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.21066-BIB50","doi-asserted-by":"crossref","first-page":"2004","DOI":"10.1161\/01.CIR.0000032002.22105.7A","volume":"106","author":"Di Diego","year":"2002","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB51","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1161\/01.RES.85.9.803","article-title":"Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent","volume":"85","author":"Dumaine","year":"1999","journal-title":"Circ Res"},{"key":"10.1002\/humu.21066-BIB52","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1161\/01.CIR.0000153267.21278.8D","article-title":"Long-term prognosis of individuals with right precordial ST-segment-elevation Brugada syndrome","volume":"111","author":"Eckardt","year":"2005","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB53","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.ijcard.2003.03.027","article-title":"Recurrent syncopic episodes as a consequence of combined Brugada syndrome and paroxysmal atrial fibrillation. Which is the therapy of choice?","volume":"94","author":"Eleftheriadis","year":"2004","journal-title":"Int J Cardiol"},{"key":"10.1002\/humu.21066-BIB54","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.jelectrocard.2003.09.054","article-title":"Cellular and ionic basis for the sex-related difference in the manifestation of the Brugada syndrome and progressive conduction disease phenotypes","volume":"36","author":"Fish","year":"2003","journal-title":"J Electrocardiol"},{"key":"10.1002\/humu.21066-BIB55","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1152\/physrev.1996.76.3.887","article-title":"Structure and function of voltage-dependent sodium channels: comparison of brain II and cardiac isoforms","volume":"76","author":"Fozzard","year":"1996","journal-title":"Physiol Rev"},{"key":"10.1002\/humu.21066-BIB56","doi-asserted-by":"crossref","first-page":"3680","DOI":"10.1161\/CIRCULATIONAHA.105.520999","article-title":"Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome","volume":"112","author":"Frustaci","year":"2005","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB57","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1073\/pnas.89.2.554","article-title":"Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel","volume":"89","author":"Gellens","year":"1992","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21066-BIB58","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1159\/000133892","article-title":"Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3p21","volume":"68","author":"George","year":"1995","journal-title":"Cytogenet Cell Genet"},{"key":"10.1002\/humu.21066-BIB59","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1016\/j.jclinepi.2007.11.009","article-title":"The Brugada type 1 electrocardiographic pattern is common among Filipinos","volume":"61","author":"Gervacio-Domingo","year":"2008","journal-title":"J Clin Epidemiol"},{"key":"10.1002\/humu.21066-BIB60","doi-asserted-by":"crossref","first-page":"1591","DOI":"10.1056\/NEJM200205163462020","article-title":"Overdose of cyclic antidepressants and the Brugada syndrome","volume":"346","author":"Goldgran-Toledano","year":"2002","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.21066-BIB61","doi-asserted-by":"crossref","first-page":"3835","DOI":"10.1529\/biophysj.107.114868","article-title":"Simulation of Ca-calmodulin-dependent protein kinase II on rabbit ventricular myocyte ion currents and action potentials","volume":"93","author":"Grandi","year":"2007","journal-title":"Biophys J"},{"key":"10.1002\/humu.21066-BIB62","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1016\/S0006-3495(03)74585-8","article-title":"KCNE4 is an inhibitory subunit to Kv1.1 and Kv1.3 potassium channels","volume":"85","author":"Grunnet","year":"2003","journal-title":"Biophys J"},{"key":"10.1002\/humu.21066-BIB63","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1111\/j.1399-0004.2006.00621.x","article-title":"High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia","volume":"69","author":"Hofman-Bang","year":"2006","journal-title":"Clin Genet"},{"key":"10.1002\/humu.21066-BIB64","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1046\/j.1540-8167.2004.03341.x","article-title":"Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A: female predominance in the signs and symptoms of the disease","volume":"15","author":"Hong","year":"2004","journal-title":"J Cardiovasc Electrophysiol"},{"key":"10.1002\/humu.21066-BIB65","doi-asserted-by":"crossref","first-page":"3023","DOI":"10.1161\/01.CIR.0000144299.17008.07","article-title":"Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations","volume":"110","author":"Hong","year":"2004","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB66","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/j.yjmcc.2004.10.015","article-title":"Cryptic 5\u00e2\u0080\u00b2 splice site activation in SCN5A associated with Brugada syndrome","volume":"38","author":"Hong","year":"2005","journal-title":"J Mol Cell Cardiol"},{"key":"10.1002\/humu.21066-BIB67","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGENETICS.108.829192","article-title":"A mutation in the \u00ce\u00b23 subunit of the cardiac sodium channel associated with Brugada ECG phenotype","author":"Hu","year":"2009","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1002\/humu.21066-BIB68","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1046\/j.1540-8167.2005.40606.x","article-title":"Clinical and electrophysiological characteristics of Brugada syndrome caused by a missense mutation in the S5-pore site of SCN5A","volume":"16","author":"Itoh","year":"2005","journal-title":"J Cardiovasc Electrophysiol"},{"key":"10.1002\/humu.21066-BIB69","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1097\/00000441-200601000-00008","article-title":"The prevalence and prognosis of a Brugada-type electrocardiogram in a population of middle-aged Japanese\u00e2\u0080\u0093American men with follow-up of three decades","volume":"331","author":"Ito","year":"2006","journal-title":"Am J Med Sci"},{"key":"10.1002\/humu.21066-BIB70","doi-asserted-by":"crossref","first-page":"3816","DOI":"10.1002\/elps.200600095","article-title":"Optimization of capillary array electrophoresis single-strand conformation polymorphism analysis for routine molecular diagnostics","volume":"27","author":"Jespersgaard","year":"2006","journal-title":"Electrophoresis"},{"key":"10.1002\/humu.21066-BIB71","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1212\/01.WNL.0000119392.29624.88","article-title":"Periodic paralysis mutation MiRP2-R83H in controls: interpretations and general recommendation","volume":"62","author":"Jurkat-Rott","year":"2004","journal-title":"Neurology"},{"key":"10.1002\/humu.21066-BIB72","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1253\/circj.CJ-08-0142","article-title":"Dynamic change in ST-segment and spontaneous occurrence of ventricular fibrillation in Brugada syndrome with a novel nonsense mutation in the SCN5A gene during long-term follow-up","volume":"73","author":"Kawamura","year":"2009","journal-title":"Circ J"},{"key":"10.1002\/humu.21066-BIB73","first-page":"925","article-title":"A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state","volume":"21","author":"Keller","year":"2005","journal-title":"Can J Cardiol"},{"key":"10.1002\/humu.21066-BIB74","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.cardiores.2006.02.030","article-title":"A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation","volume":"70","author":"Keller","year":"2006","journal-title":"Cardiovasc Res"},{"key":"10.1002\/humu.21066-BIB75","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1016\/j.cardiores.2005.03.024","article-title":"Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations","volume":"67","author":"Keller","year":"2005","journal-title":"Cardiovasc Res"},{"key":"10.1002\/humu.21066-BIB76","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1085\/jgp.110.4.403","article-title":"Sodium channel inactivation is altered by substitution of voltage sensor positive charges","volume":"110","author":"Kontis","year":"1997","journal-title":"J Gen Physiol"},{"key":"10.1002\/humu.21066-BIB77","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1085\/jgp.110.4.391","article-title":"Sodium channel activation gating is affected by substitutions of voltage sensor positive charges in all four domains","volume":"110","author":"Kontis","year":"1997","journal-title":"J Gen Physiol"},{"key":"10.1002\/humu.21066-BIB78","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/S0735-1097(02)01964-2","article-title":"The electrophysiologic mechanism of ST-segment elevation in Brugada syndrome","volume":"40","author":"Kurita","year":"2002","journal-title":"J Am Coll Cardiol"},{"key":"10.1002\/humu.21066-BIB79","doi-asserted-by":"crossref","first-page":"3081","DOI":"10.1161\/hc5001.100834","article-title":"Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family","volume":"104","author":"Kyndt","year":"2001","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB80","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1007\/s10038-005-0283-3","article-title":"Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms","volume":"50","author":"Lai","year":"2005","journal-title":"J Hum Genet"},{"key":"10.1002\/humu.21066-BIB81","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1111\/j.1540-8167.2006.00411.x","article-title":"SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias","volume":"17","author":"Laitinen-Forsblom","year":"2006","journal-title":"J Cardiovasc Electrophysiol"},{"key":"10.1002\/humu.21066-BIB82","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1089\/109065701753617480","article-title":"Genetic analysis of Brugada syndrome in Israel: two novel mutations and possible genetic heterogeneity","volume":"5","author":"Levy-Nissenbaum","year":"2001","journal-title":"Genet Test"},{"key":"10.1002\/humu.21066-BIB83","doi-asserted-by":"crossref","first-page":"7884","DOI":"10.1074\/jbc.M310501200","article-title":"MinK, MiRP1, and MiRP2 diversify Kv3.1 and Kv3.2 potassium channel gating","volume":"279","author":"Lewis","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21066-BIB84","first-page":"616","article-title":"[Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617]","volume":"34","author":"Liang","year":"2006","journal-title":"Zhonghua Xin Xue Guan Bing Za Zhi"},{"key":"10.1002\/humu.21066-BIB85","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.jelectrocard.2006.10.057","article-title":"The hyperkalemic Brugada sign","volume":"40","author":"Littmann","year":"2007","journal-title":"J Electrocardiol"},{"key":"10.1002\/humu.21066-BIB86","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.jelectrocard.2006.07.007","article-title":"ST-segment elevation: a common finding in severe hypercalcemia","volume":"40","author":"Littmann","year":"2007","journal-title":"J Electrocardiol"},{"key":"10.1002\/humu.21066-BIB87","doi-asserted-by":"crossref","first-page":"2260","DOI":"10.1161\/CIRCULATIONAHA.107.703330","article-title":"Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+current and causes inherited arrhythmias","volume":"116","author":"London","year":"2007","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB88","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1016\/0008-6363(96)00115-0","article-title":"Phase 2 reentry as a mechanism of initiation of circus movement reentry in canine epicardium exposed to simulated ischemia","volume":"32","author":"Lukas","year":"1996","journal-title":"Cardiovasc Res"},{"key":"10.1002\/humu.21066-BIB89","first-page":"2219","article-title":"The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome","volume":"118","author":"Makita","year":"2008","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.21066-BIB90","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1016\/j.hrthm.2005.06.032","article-title":"Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms","volume":"2","author":"Makita","year":"2005","journal-title":"Heart Rhythm"},{"key":"10.1002\/humu.21066-BIB91","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1006\/geno.1994.1551","article-title":"Genomic organization and chromosomal assignment of the human voltage-gated Na(+) channel beta-1 subunit gene (SCN1B)","volume":"23","author":"Makita","year":"1994","journal-title":"Genomics"},{"key":"10.1002\/humu.21066-BIB92","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1016\/j.hrthm.2006.10.028","article-title":"Novel SCN5A mutation (Q55X) associated with age-dependent expression of Brugada syndrome presenting as neurally mediated syncope","volume":"4","author":"Makita","year":"2007","journal-title":"Heart Rhythm"},{"key":"10.1002\/humu.21066-BIB93","doi-asserted-by":"crossref","first-page":"2100","DOI":"10.1016\/j.jacc.2005.08.043","article-title":"High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations","volume":"46","author":"Makiyama","year":"2005","journal-title":"J Am Coll Cardiol"},{"key":"10.1002\/humu.21066-BIB94","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1253\/circj.CJ-08-0508","article-title":"Mutation analysis of the glycerol-3 phosphate dehydrogenase-1 like (GPD1L) gene in Japanese patients with Brugada syndrome","volume":"72","author":"Makiyama","year":"2008","journal-title":"Circ J"},{"key":"10.1002\/humu.21066-BIB95","doi-asserted-by":"crossref","first-page":"1326","DOI":"10.1016\/j.jacc.2008.07.013","article-title":"A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation","volume":"52","author":"Makiyama","year":"2008","journal-title":"J Am Coll Cardiol"},{"key":"10.1002\/humu.21066-BIB96","doi-asserted-by":"crossref","first-page":"8077","DOI":"10.1523\/JNEUROSCI.23-22-08077.2003","article-title":"MinK-related peptide 2 modulates Kv2.1 and Kv3.1 potassium channels in mammalian brain","volume":"23","author":"McCrossan","year":"2003","journal-title":"J Neurosci"},{"key":"10.1002\/humu.21066-BIB97","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1074\/jbc.273.2.1121","article-title":"A critical role for the S4\u00e2\u0080\u0093S5 intracellular loop in domain IV of the sodium channel alpha-subunit in fast inactivation","volume":"273","author":"McPhee","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21066-BIB98","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.cardiores.2005.04.003","article-title":"Sodium channels as macromolecular complexes: implications for inherited arrhythmia syndromes","volume":"67","author":"Meadows","year":"2005","journal-title":"Cardiovasc Res"},{"key":"10.1002\/humu.21066-BIB99","doi-asserted-by":"crossref","first-page":"25187","DOI":"10.1074\/jbc.M200564200","article-title":"A single transmembrane site in the KCNE-encoded proteins controls the specificity of KvLQT1 channel gating","volume":"277","author":"Melman","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21066-BIB100","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.cardiores.2005.03.005","article-title":"Pathophysiological mechanisms of Brugada syndrome: depolarization disorder, repolarization disorder, or more?","volume":"67","author":"Meregalli","year":"2005","journal-title":"Cardiovasc Res"},{"key":"10.1002\/humu.21066-BIB101","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1016\/j.clinbiochem.2008.10.014","article-title":"Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis","volume":"42","author":"Millat","year":"2009","journal-title":"Clin Biochem"},{"key":"10.1002\/humu.21066-BIB102","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1016\/0735-1097(95)00613-3","article-title":"Autonomic and antiarrhythmic drug modulation of ST segment elevation in patients with Brugada syndrome","volume":"27","author":"Miyazaki","year":"1996","journal-title":"J Am Coll Cardiol"},{"key":"10.1002\/humu.21066-BIB103","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1046\/j.1540-8167.2004.03601.x","article-title":"Vagal activity modulates spontaneous augmentation of ST elevation in the daily life of patients with Brugada syndrome","volume":"15","author":"Mizumaki","year":"2004","journal-title":"J Cardiovasc Electrophysiol"},{"key":"10.1002\/humu.21066-BIB104","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1097\/01.fjc.0000206437.27854.65","article-title":"Effects of low-dose quinidine on ventricular tachyarrhythmias in patients with Brugada syndrome: low-dose quinidine therapy as an adjunctive treatment","volume":"47","author":"Mizusawa","year":"2006","journal-title":"J Cardiovasc Pharmacol"},{"key":"10.1002\/humu.21066-BIB105","doi-asserted-by":"crossref","first-page":"2308","DOI":"10.1073\/pnas.030362197","article-title":"Beta 3: an additional auxillary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics","volume":"97","author":"Morgan","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21066-BIB106","doi-asserted-by":"crossref","first-page":"1478","DOI":"10.1073\/pnas.0710366105","article-title":"Counting membrane-embedded KCNE beta-subunits in functioning K+ channel complexes","volume":"105","author":"Morin","year":"2008","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21066-BIB107","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/S0002-9149(97)00113-6","article-title":"Sudden unexplained death syndrome in Southeast Asia","volume":"79","author":"Nademanee","year":"1997","journal-title":"Am J Cardiol"},{"key":"10.1002\/humu.21066-BIB108","doi-asserted-by":"crossref","first-page":"2221","DOI":"10.1161\/01.CIR.0000066319.56234.C8","article-title":"Defibrillator versus beta-blockers for unexplained death in Thailand (DEBUT): a randomized clinical trial","volume":"107","author":"Nademanee","year":"2003","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB109","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1093\/dnares\/2.4.167","article-title":"Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121\u00e2\u0080\u0093KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1","volume":"2","author":"Nagase","year":"1995","journal-title":"DNA Res"},{"key":"10.1002\/humu.21066-BIB110","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1161\/01.RES.64.2.297","article-title":"Anti-cholinergic effects of quinidine, disopyramide, and procainamide in isolated atrial myocytes: mediation by different molecular mechanisms","volume":"64","author":"Nakajima","year":"1989","journal-title":"Circ Res"},{"key":"10.1002\/humu.21066-BIB111","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1085\/jgp.200709805","article-title":"KCNE1 abd KCNE3 stabilize and\/or slow voltage sensing S4 segment of KCNQ1 channel","volume":"130","author":"Nakajo","year":"2007","journal-title":"J Gen Physiol"},{"key":"10.1002\/humu.21066-BIB112","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":"10.1002\/humu.21066-BIB113","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1253\/circj.68.740","article-title":"Genetic analysis of Brugada syndrome in Western Japan: two novel mutations","volume":"68","author":"Niimura","year":"2004","journal-title":"Circ J"},{"key":"10.1002\/humu.21066-BIB114","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1089\/109065703322537287","article-title":"Denaturing high-performance liquid chromatography quickly and reliably detects cardiac ion channel mutations in long QT syndrome","volume":"7","author":"Ning","year":"2003","journal-title":"Genet Test"},{"key":"10.1002\/humu.21066-BIB115","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1038\/nm0901-1021","article-title":"Abrupt rate accelerations or premature beats cause life-threatening arrhythmias in mice with long-QT3 syndrome","volume":"7","author":"Nuyens","year":"2001","journal-title":"Nat Med"},{"key":"10.1002\/humu.21066-BIB116","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1001\/jama.293.4.447","article-title":"Sodium channel mutations and susceptibility to heart failure and atrial fibrillation","volume":"293","author":"Olson","year":"2005","journal-title":"JAMA"},{"key":"10.1002\/humu.21066-BIB117","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1054\/jelc.2001.26318","article-title":"Aborted sudden death, transient Brugada pattern, and wide QRS dysrrhythmias after massive cocaine ingestion","volume":"34","author":"Ortega-Carnicer","year":"2001","journal-title":"J Electrocardiol"},{"key":"10.1002\/humu.21066-BIB118","doi-asserted-by":"crossref","first-page":"6210","DOI":"10.1073\/pnas.082121299","article-title":"Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a","volume":"99","author":"Papadatos","year":"2002","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21066-BIB119","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1046\/j.1540-8167.2004.03681.x","article-title":"Magnetic resonance imaging findings in patients with Brugada syndrome","volume":"15","author":"Papavassiliu","year":"2004","journal-title":"J Cardiovasc Electrophysiol"},{"key":"10.1002\/humu.21066-BIB120","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1046\/j.1540-8167.2001.01192.x","article-title":"Asymptomatic brugada syndrome case unmasked during dimenhydrinate infusion","volume":"12","author":"Pastor","year":"2001","journal-title":"J Cardiovasc Electrophysiol"},{"key":"10.1002\/humu.21066-BIB121","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1093\/cvr\/cvn023","article-title":"Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome","volume":"78","author":"Petitprez","year":"2008","journal-title":"Cardiovasc Res"},{"key":"10.1002\/humu.21066-BIB122","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.hrthm.2006.09.031","article-title":"A sodium channel pore mutation causing Brugada syndrome","volume":"4","author":"Pfahnl","year":"2007","journal-title":"Heart Rhythm"},{"key":"10.1002\/humu.21066-BIB123","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/S0002-9149(03)00788-4","article-title":"Acquired Brugada syndrome","volume":"92","author":"Pilz","year":"2003","journal-title":"Am J Cardiol"},{"key":"10.1002\/humu.21066-BIB124","doi-asserted-by":"crossref","first-page":"2509","DOI":"10.1161\/01.CIR.102.20.2509","article-title":"Clinical and Genetic Heterogeneity of right bundle branch block and ST-segment elevation syndrome","volume":"102","author":"Priori","year":"2000","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB125","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1161\/hc1102.105288","article-title":"Natural history of Brugada syndrome: insights for risk stratification and management","volume":"105","author":"Priori","year":"2002","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB126","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1023\/A:1026255617913","article-title":"Inherited arrhythmia syndromes: applying the molecular biology and genetic to the clinical management","volume":"9","author":"Priori","year":"2003","journal-title":"J Interv Card Electrophysiol"},{"key":"10.1002\/humu.21066-BIB127","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1111\/j.1540-8167.2006.00349.x","article-title":"Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation","volume":"17","author":"Probst","year":"2006","journal-title":"J Cardiovasc Electrophysiol"},{"key":"10.1002\/humu.21066-BIB128","doi-asserted-by":"crossref","first-page":"2042","DOI":"10.1161\/CIRCULATIONAHA.106.664219","article-title":"Clinical aspects and prognosis of Brugada syndrome in children","volume":"115","author":"Probst","year":"2007","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB129","doi-asserted-by":"crossref","first-page":"4762","DOI":"10.1046\/j.1432-1033.2003.03878.x","article-title":"Molecular cloning and functional expression of the human sodium channel \u00ce\u00b21B subunit, a novel splicing variant of the \u00ce\u00b21 subunit","volume":"270","author":"Qin","year":"2003","journal-title":"Eur J Biochem"},{"key":"10.1002\/humu.21066-BIB130","doi-asserted-by":"crossref","first-page":"30623","DOI":"10.1074\/jbc.M104471200","article-title":"Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes","volume":"276","author":"Rivolta","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21066-BIB131","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1016\/j.hrthm.2004.07.001","article-title":"Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death","volume":"1","author":"Rossenbacker","year":"2004","journal-title":"Heart Rhythm"},{"key":"10.1002\/humu.21066-BIB132","doi-asserted-by":"crossref","first-page":"2317","DOI":"10.1161\/CIRCULATIONAHA.106.628537","article-title":"Outcome after implantation of a cardioverter-defibrillator in patients with Brugada syndrome: a multicenter study","volume":"114","author":"Sacher","year":"2006","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB133","doi-asserted-by":"crossref","first-page":"3672","DOI":"10.1161\/CIRCULATIONAHA.105.587147","article-title":"Structural heart disease, SCN5A gene mutations, and Brugada syndrome: a complex menage a trois","volume":"112","author":"Saffitz","year":"2005","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB134","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1038\/35003200","article-title":"A constitutively open potassium channel formed by KCNQ1 and KCNE3","volume":"403","author":"Schroeder","year":"2000","journal-title":"Nature"},{"key":"10.1002\/humu.21066-BIB135","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1002\/humu.9144","article-title":"Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease","volume":"21","author":"Schulze-Bahr","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21066-BIB136","doi-asserted-by":"crossref","first-page":"1320","DOI":"10.1046\/j.1540-8167.2000.01320.x","article-title":"Effect of sodium channel blockers on ST segment, QRS duration, and corrected QT interval in patients with Brugada syndrome","volume":"11","author":"Shimizu","year":"2000","journal-title":"J Cardiovasc Electrophysiol"},{"key":"10.1002\/humu.21066-BIB137","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1007\/s10038-004-0182-z","article-title":"Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome","volume":"49","author":"Shin","year":"2004","journal-title":"J Hum Genet"},{"key":"10.1002\/humu.21066-BIB138","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1016\/j.lfs.2006.10.025","article-title":"A novel mutation in the SCN5A gene is associated with Brugada syndrome","volume":"80","author":"Shin","year":"2007","journal-title":"Life Sci"},{"key":"10.1002\/humu.21066-BIB139","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1126\/science.1716787","article-title":"The roles of the subunits in the function of the calcium channel","volume":"253","author":"Singer","year":"1991","journal-title":"Science"},{"key":"10.1002\/humu.21066-BIB140","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1093\/europace\/eum271","article-title":"The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases","volume":"10","author":"Six","year":"2008","journal-title":"Europace"},{"key":"10.1002\/humu.21066-BIB141","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1016\/S0735-1097(02)01962-9","article-title":"Genotype\u00e2\u0080\u0093phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients","volume":"40","author":"Smits","year":"2002","journal-title":"J Am Coll Cardiol"},{"key":"10.1002\/humu.21066-BIB142","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1006\/geno.1994.1347","article-title":"Genomic structure of human L-type Ca2+ channel","volume":"22","author":"Soldatov","year":"1994","journal-title":"Genomics"},{"key":"10.1002\/humu.21066-BIB143","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":"10.1002\/humu.21066-BIB144","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1212\/01.WNL.0000082392.66713.E3","article-title":"Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis","volume":"61","author":"Sternberg","year":"2003","journal-title":"Neurology"},{"key":"10.1002\/humu.21066-BIB145","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1007\/s004240000449","article-title":"Tissue distribution and functional expression of the human voltage gated sodium channel beta 3 subunit","volume":"441","author":"Stevens","year":"2001","journal-title":"Pfl\u00c3\u00bcgers Arch"},{"key":"10.1002\/humu.21066-BIB146","doi-asserted-by":"crossref","first-page":"2391","DOI":"10.1016\/S0024-3205(03)00121-8","article-title":"Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects","volume":"72","author":"Takahata","year":"2003","journal-title":"Life Sci"},{"key":"10.1002\/humu.21066-BIB147","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1046\/j.0954-6820.2003.01247.x","article-title":"A cardiac sodium channel mutation identified in Brugada syndrome associated with atrial standstill","volume":"255","author":"Takehara","year":"2004","journal-title":"J Intern Med"},{"key":"10.1002\/humu.21066-BIB148","doi-asserted-by":"crossref","first-page":"3035","DOI":"10.1006\/jmcc.1997.0532","article-title":"Distribution, splicing and glucocorticoid-induced expression of cardiac alpha 1C and alpha 1D voltage-gated Ca2+ channel mRNAs","volume":"29","author":"Takimoto","year":"1997","journal-title":"J Mol Cell Cardiol"},{"key":"10.1002\/humu.21066-BIB149","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1038\/35059090","article-title":"A sodium-channel mutation causes isolated cardiac conduction disease","volume":"409","author":"Tan","year":"2001","journal-title":"Nature"},{"key":"10.1002\/humu.21066-BIB150","first-page":"151","article-title":"Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22\u00e2\u0080\u0093q23","volume":"100","author":"Taviaux","year":"1997","journal-title":"Hum Genet"},{"key":"10.1002\/humu.21066-BIB151","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1097\/01.hco.0000221576.33501.83","article-title":"The role of molecular autopsy in unexplained sudden cardiac death","volume":"21","author":"Tester","year":"2006","journal-title":"Curr Opin Cardiol"},{"key":"10.1002\/humu.21066-BIB152","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":"10.1002\/humu.21066-BIB153","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/S0828-282X(09)70043-1","article-title":"Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A","volume":"25","author":"Tfelt-Hansen","year":"2009","journal-title":"Can J Cardiol"},{"key":"10.1002\/humu.21066-BIB154","first-page":"1122","article-title":"[Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome]","volume":"35","author":"Tian","year":"2007","journal-title":"Zhonghua Xin Xue Guan Bing Za Zhi"},{"key":"10.1002\/humu.21066-BIB155","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1038\/nature02588","article-title":"Structure of a complex between a voltage-gated calcium channel beta-subunit and an alpha-subunit domain","volume":"429","author":"Van","year":"2004","journal-title":"Nature"},{"key":"10.1002\/humu.21066-BIB156","doi-asserted-by":"crossref","first-page":"2253","DOI":"10.1161\/CIRCULATIONAHA.107.704627","article-title":"Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome","volume":"116","author":"Van Norstrand","year":"2007","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB157","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/S1096-7192(02)00006-9","article-title":"Novel mutations in domain I of SCN5A cause Brugada syndrome","volume":"75","author":"Vatta","year":"2002","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.21066-BIB158","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":"10.1002\/humu.21066-BIB159","doi-asserted-by":"crossref","first-page":"2544","DOI":"10.1093\/eurheartj\/ehl205","article-title":"A prospective study on spontaneous fluctuations between diagnostic and non-diagnostic ECGs in Brugada syndrome: implications for correct phenotyping and risk stratification","volume":"27","author":"Veltmann","year":"2006","journal-title":"Eur Heart J"},{"key":"10.1002\/humu.21066-BIB160","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1016\/j.hrthm.2006.05.030","volume":"3","author":"Vernooy","year":"2006","journal-title":"Heart Rhythm"},{"key":"10.1002\/humu.21066-BIB161","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1038\/nn1300","article-title":"PI3K promotes voltage-dependent calcium channel trafficking to the plasma membrane","volume":"7","author":"Viard","year":"2004","journal-title":"Nat Neurosci"},{"key":"10.1002\/humu.21066-BIB162","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/j.hrthm.2008.11.030","article-title":"Empiric quinidine therapy for asymptomatic Brugada syndrome: time for a prospective registry","volume":"6","author":"Viskin","year":"2009","journal-title":"Heart Rhythm"},{"key":"10.1002\/humu.21066-BIB163","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1161\/CIRCULATIONAHA.106.646513","article-title":"Cardiac sodium channel dysfunction in sudden infant death syndrome","volume":"115","author":"Wang","year":"2007","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB164","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s10916-007-9107-7","article-title":"Cost-effectiveness of implantable cardioverter-defibrillators in Brugada syndrome treatment","volume":"32","author":"Wang","year":"2008","journal-title":"J Med Syst"},{"key":"10.1002\/humu.21066-BIB165","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1006\/geno.1996.0236","article-title":"Genomic organization of the human SCN5A gene encoding the cardiac sodium channel","volume":"34","author":"Wang","year":"1996","journal-title":"Genomics"},{"key":"10.1002\/humu.21066-BIB166","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":"10.1002\/humu.21066-BIB167","first-page":"2260","article-title":"Sodium channel \u00ce\u00b21 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans","volume":"118","author":"Watanabe","year":"2008","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.21066-BIB168","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1161\/hc0602.103618","article-title":"Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3","volume":"105","author":"Weiss","year":"2002","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB169","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1161\/hc0602.103677","article-title":"Cardiac autonomic dysfunction in Brugada syndrome","volume":"105","author":"Wichter","year":"2002","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB170","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1253\/circj.68.275","article-title":"Prevalence of right bundle-branch block and right precordial ST-segment elevation (Brugada-type electrocardiogram) in Japanese children","volume":"68","author":"Yamakawa","year":"2004","journal-title":"Circ J"},{"key":"10.1002\/humu.21066-BIB171","doi-asserted-by":"crossref","first-page":"1660","DOI":"10.1161\/01.CIR.100.15.1660","article-title":"Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated with ST-segment elevation","volume":"100","author":"Yan","year":"1999","journal-title":"Circulation"},{"key":"10.1002\/humu.21066-BIB172","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/S0896-6273(00)80028-8","article-title":"Molecular basis of charge movement in voltage-gated sodium channels","volume":"16","author":"Yang","year":"1996","journal-title":"Neuron"},{"key":"10.1002\/humu.21066-BIB173","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.hrthm.2004.11.022","article-title":"Double SCN5A mutation underlying asymptomatic Brugada syndrome","volume":"2","author":"Yokoi","year":"2005","journal-title":"Heart Rhythm"},{"key":"10.1002\/humu.21066-BIB174","doi-asserted-by":"crossref","first-page":"E84","DOI":"10.1161\/hh1201.093511","article-title":"MinK-related peptide 1: a beta subunit for the HCN ion channel subunit family enhances expression and speeds activation","volume":"88","author":"Yu","year":"2001","journal-title":"Circ Res"},{"key":"10.1002\/humu.21066-BIB175","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1161\/hh1001.090839","article-title":"minK-related peptide 1 associates with Kv4.2 and modulates its gating function: potential role as beta subunit of cardiac transient outward channel?","volume":"88","author":"Zhang","year":"2001","journal-title":"Circ Res"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.21066","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.21066\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,25]],"date-time":"2023-05-25T17:55:51Z","timestamp":1685037351000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.21066"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,9]]},"references-count":175,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2009,9]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.21066","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,9]]}}}