Cited by 848Cardiac electrophysiology and arrhythmiasIon channel regulation and functionCardiovascular Effects of Exercise

The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.

Sudden Death Associated With Short-QT Syndrome Linked to Mutations in HERG

Brugada, Ramon, Hong, Kui, Dumaine, Robert, Cordeiro, Jonathan, Gaita, Fiorenzo, Borggrefe, Martin, Menendez, Teresa M., Brugada, Josep, Pollevick, Guido D., Wolpert, Christian, Burashnikov, Elena, Matsuo, Kiyotaka, Sheng Wu, Yue, Guerchicoff, Alejandra, Bianchi, Francesca, Giustetto, Carla, Schimpf, Rainer, Brugada, Pedro, Antzelevitch, Charles·2004·Circulation

DOI 10.1161/01.cir.0000109482.92774.3a

Open this paper in CoChat — free account

Abstract

BACKGROUND: Sudden cardiac death takes the lives of more than 300 000 Americans annually. Malignant ventricular arrhythmias occurring in individuals with structurally normal hearts account for a subgroup of these sudden deaths. The present study describes the genetic basis for a new clinical entity characterized by sudden death and short-QT intervals in the ECG. METHODS AND RESULTS: Three families with hereditary short-QT syndrome and a high incidence of ventricular arrhythmias and sudden cardiac death were studied. In 2 of them, we identified 2 different missense mutations resulting in the same amino acid change (N588K) in the S5-P loop region of the cardiac IKr channel HERG (KCNH2). The mutations dramatically increase IKr, leading to heterogeneous abbreviation of action potential duration and refractoriness, and reduce the affinity of the channels to IKr blockers. CONCLUSIONS: We demonstrate a novel genetic and biophysical mechanism responsible for sudden death in infants, children, and young adults caused by mutations in KCNH2. The occurrence of sudden cardiac death in the first 12 months of life in 2 patients suggests the possibility of a link between KCNH2 gain of function mutations and sudden infant death syndrome. KCNH2 is the binding target for a wide spectrum of cardiac and noncardiac pharmacological compounds. Our findings may provide better understanding of drug interaction with KCNH2 and have implications for diagnosis and therapy of this and other arrhythmogenic diseases.

Integrity signals

Registry

Crossref · 10.1161/01.cir.0000109482.92774.3a

Cites

27 of 27 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Sudden cardiac death
Zipes, D. P., & Wellens, H. J. J. (1998) · Circulation · doi:10.1161/01.cir.98.21.2334 · Cited by 2,744
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
Curran, M. E., Splawski, I., Timothy, K. W., Vincent, G. M., Green, E. D., & Keating, M. T. (1995) · Cell · doi:10.1016/0092-8674(95)90358-5 · Cited by 2,253
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
Chen, Q., Kirsch, G. E., Zhang, D., Brugada, R., Brugada, J., Brugada, P., Potenza, D. R., Moya‐Mitjans, À., Borggrefe, M., BREITHARDT, G. E., et al. (1998) · Nature · doi:10.1038/32675 · Cited by 1,823
Two components of cardiac delayed rectifier K+ current. Differential sensitivity to block by class III antiarrhythmic agents.
Sanguinetti, M. C., & Jurkiewicz, N. K. (1990) · The Journal of General Physiology · doi:10.1085/jgp.96.1.195 · Cited by 1,462
KCNQ1 Gain-of-Function Mutation in Familial Atrial Fibrillation
Chen, Y.-H., Xu, S.-J., Bendahhou, S., Wang, X.-L., Wang, Y., Xu, W.-Y., Jin, H., Sun, H., Su, X.-Y., Zhuang, Q.-N., et al. (2003) · Science · doi:10.1126/science.1077771 · Cited by 989
Short QT Syndrome: A Familial Cause of Sudden Death
Gaita, F., Giustetto, C., Bianchi, F., Wolpert, C., Schimpf, R., Riccardi, R., Grossi, S., Richiardi, E., & Borggrefe, M. (2003) · Circulation · doi:10.1161/01.cir.0000085071.28695.c4 · Cited by 708
Self-citation
Idiopathic Short QT Interval:A New Clinical Syndrome?
Gussak, I. B., Brugada, P., Brugada, J., Wright, R. S., Kopecky, S. L., CHAITMAN, B. R., & Bjerregaard, P. (2000) · Cardiology · doi:10.1159/000047299 · Cited by 669
Multiple Mechanisms in the Long-QT Syndrome
Roden, D. M., Lazzara, R., Rosen, M. R., Schwartz, P. J., Towbin, J. A., & Vincent, G. M. (1996) · Circulation · doi:10.1161/01.cir.94.8.1996 · Cited by 631
NovelSCN5AMutation Leading Either to Isolated Cardiac Conduction Defect or Brugada Syndrome in a Large French Family
Kyndt, F., Probst, V., Potet, F., Demolombe, S., Chevallier, J.-C., Baró, I., Moisan, J., Boisseau, P., Schott, J., Escande, D., et al. (2001) · Circulation · doi:10.1161/hc5001.100834 · Cited by 363
HERG, a Primary Human Ventricular Target of the Nonsedating Antihistamine Terfenadine
Roy, M. L., Dumaine, R., & Brown, A. M. (1996) · Circulation · doi:10.1161/01.cir.94.4.817 · Cited by 302

Show all 27 references

Research works printed but not linked: 8

10.1161/circ.98.21.2334 · DOI
10.1161/circ.94.8.1996 · DOI
10.1161/circ.104.25.3081 · DOI
1998, J Pharmacol Exp Ther, 286, 727
10.1161/circ.94.4.817 · DOI
2000, Mol Pharmacol, 57, 367
10.1161/res.82.3.386 · DOI
10.1161/res.87.11.1012 · DOI

Sorted by citations

Items 701–800 of 848

Extrasístoles ventriculares. Taquicardias ventriculares
Granados, A. L., Palomas, J. L. B., & Sánchez, M. A. (2009) · Medicine - Programa de Formación Médica Continuada Acreditado · doi:10.1016/s0304-5412(09)72004-9
Síndrome de QT corto
Cardentey, M. C., Rosabal, A. M., Vigoa, A. V., & Cruz, A. V. (2009) · Clínica e Investigación en Arteriosclerosis · doi:10.1016/s0214-9168(09)72046-7
The Effects of Nicorandil and Nifekalant, Which Were Injected into the Pericardial Space, for Transmural Dispersion of Repolarization in the Pig
Ito, H., Asano, T., Kobayashi, Y., Onuki, T., Miyoshi, F., Matsuyama, T., Minoura, Y., Watanabe, N., Kawamura, M., Tanno, K., et al. (2007) · Journal of Arrhythmia · doi:10.1016/s1880-4276(07)80015-9
Use‐Dependent Modulation of Myocardial Conduction by a New Class of HERG Agonists: Deal Breaker or Cherry on Top?
Akar, F. G. (2010) · Journal of Cardiovascular Electrophysiology · doi:10.1111/j.1540-8167.2010.01747.x
Circulation Cardiovascular Case Series
Beckman, J. A., & Loscalzo, J. (2010) · Circulation · doi:10.1161/circulationaha.110.989160
Descripción del primer caso clínico de síndrome de Qt corto en Colombia
Díaz, J. C., Duque, M., Chavarriaga, A., Duque, L., Marín, J. E., Uribe, W., Velásquez, J. E., & Aristizábal, J. M. (2014) · Revista Colombiana de Cardiología · doi:10.1016/s0120-5633(14)70276-1
Idiopathic VF and short repolarization: Intriguing new concept
Zaręba, W. (2004) · Heart Rhythm · doi:10.1016/j.hrthm.2004.09.007
The Future of Sudden Cardiac Death
Greenberg, H. (2009) · Annals of Noninvasive Electrocardiology · doi:10.1111/j.1542-474x.2008.00279.x
Prevention of Sudden Death in Patients with Genetic Arrhythmias
Delise, P. (2007) · Springer eBooks · doi:10.1007/978-88-470-0636-2_33
Electrocardiograms Not to Miss
Pérez-Riera, A. (2010) · Springer eBooks · doi:10.1007/978-1-84882-927-5_6
No Widening of QT Interval during Bradycardia
Takase, B. (2011) · Journal of Arrhythmia · doi:10.1016/s1880-4276(11)80050-5
Short QT syndrome
Cardentey, M. C. (2012) · DOAJ (DOAJ: Directory of Open Access Journals)
Effects of Nifekalant Injected into the Pericardial Space on the Transmural Dispersion of Repolarization in Pig
Hiroyuki, I. T. O., ASANO, T., Kobayashi, Y., Onuki, T., Miyoshi, F., Matsuyama, T., Minoura, Y., Watanabe, N., Kawamura, M., Tanno, K., et al. (2007) · The Showa University Journal of Medical Sciences · doi:10.15369/sujms1989.19.123
Construction of a HERG mutant L539fs/47-*558W pEGFP vector and the expression of the fusion protein in HEK293 cells
ZHANG, J., Lü, Y., Zhang, A., Sun, C., Wenqi, H. A. N., Li, G., Jie, G. A. O., Huo, J., Junqiang, P., Zhou, X., et al. (2013) · 中国人民解放军军医大学学报：英文版 · doi:10.1016/s1000-1948(13)60034-9
Traitement médical des troubles du rythme
Dinanian, S. (2005) · EMC - Cardiologie-Angéiologie · doi:10.1016/j.emcaa.2005.10.002
Génétique moléculaire des arythmies cardiaques
Thomas, C., Guicheney, P., & Lunardi, J. (2005) · La Revue de Médecine Interne · doi:10.1016/j.revmed.2005.10.012
QT Interval Revisited —Not Just the Matter of “Interval,” but “Dynamics, Variability and Morphology” Matter!—
Saikawa, T., Nakagawa, M., & Takahashi, N. (2007) · Journal of Arrhythmia · doi:10.1016/s1880-4276(07)80002-0
Is exercise-related QT interval shortening with a peaked T wave a specific electrocardiographic finding of pheochromocytoma?
Hayashi, K., Konno, T., Ino, H., & Yamagishi, M. (2013) · Journal of Cardiology Cases · doi:10.1016/j.jccase.2013.01.007
Rhythmusstörungen des Herzens
Hoppe, U. C. (2008) · Springer eBooks · doi:10.1007/978-3-540-79011-2_3
[Cardiologic assessment of surviving family members of young victims of sudden cardiac death: diagnostic yield].
Autore, C., Pagannone, E., Re, F., Romeo, D. M., Musumeci, B., Baratta, P., Marino, L., Cauti, F. M., & Zachara, E. (2010) · PubMed
Therapeutic Management in the Idiopathic Ventricular Fibrillation: Is there Still a Place for Pharmacological Treatment?
Centurión, O. A. (2014) · Journal of Bioequivalence & Bioavailability · doi:10.4172/jbb.10000192
Ion channel gene variants predisposing to severe human ventricular arrhythmias
Marjamaa, A. (2009) · Työväentutkimus Vuosikirja
The long QT syndrome
Novotný, T. (2007) · Cor et Vasa · doi:10.33678/cor.2007.144
Short QT syndrome
Cardentey, M. C. (2012) · Revista cubana de investigaciones biomédicas
Genetic defects of calcium and potassium signaling in inherited ventricular arrhythmias
Laitinen, P. H. (2004) · Työväentutkimus Vuosikirja
ACC/AHA/ESC PRACTICE GUIDELINES ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death
Zipes, D. P., Buxton, A. E., Gregoratos, G., Moss, A. J., Myerburg, R. J., Priori, S. G., Quiñones, M. A., von Roden, M., & Silka, M. J. (2006)
Increased Vulnerability of the Human Ventricle to Re-entrant Excitation in hERG Linked SQT1
Adeniran, I. (2014) · Springer theses · doi:10.1007/978-3-319-07200-5_6
Does a Short QT Interval Presage a Short Life Span
Manolis, A. S., Koulouris, S. N., & Kappos, K. G. (2012) · Hospital chronicles/Hospital Chronicles · doi:10.2015/hc.v7i4.529
Identification of the modulators of cardiac ion channel function
Carstens, J. J. (2009) · SUNScholar (Stellenbosch University)
Mechanistic insights to pro-arrhythmogenesis of short-QT syndrome associated with KCNQ1 gene mutation
Zhang, H., Kharche, S., Stewart, P., & Hancox, J. C. (2007) · Computers in cardiology · doi:10.1109/cic.2007.4745467
The Role of Spatial Dispersion of Repolarization and Intramural Reentry in Inherited and Acquired Sudden Cardiac Death Syndromes
Antzelevitch, C. N. (2008) · Wiley eBooks · doi:10.1002/9781444300307.ch1
Short QT Syndrome: How Frequent Is It and What Are Its Peculiar Features?
Gaïta, F. (2006) · Springer eBooks · doi:10.1007/88-470-0371-7_40
Canalopatias e risco de morte súbita
Ribeiro, A. M. F. (2011) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · doi:10.34626/dkeh-ar05
NOVEL ELECTROCARDIOGRAPHIC MARKERS BASED ON WAVELET TRANSFORM FOR PREDICTION OF VENTRICULAR ARRHYTHMIAS
Uchaipichat, N., Sinsomboonchai, K., & Jongworakun, K. (2010) · Biomedical Engineering Applications Basis and Communications · doi:10.4015/s1016237210002225
Short QT interval
Kumar, B. (2013) · Health Renaissance · doi:10.3126/hren.v11i1.7611
Short QT Syndrome: A Review of Current Literature
Dehghani, M. R., Reza, M. F., Nasab, S. A. K. F. K. S. M. M., Haghjoo, M., & Sadr‐Ameli, M. A. (2006) · Iranian heart journal
Development of a biophysically detailed model of the rapid-delayed rectifier potassium channel
Adeniran, I., Hancox, J. C., & Zhang, H. (2010) · Research Explorer (The University of Manchester)
Effects of Mutations and Genetic Overlap in Inherited Long-QT and Brugada Arrhythmia
Kotta, S.-M. (2012)
Review Article Congenital Short QT Syndrome
Crotti, L., Taravelli, E., Girardengo, G., Schwartz, P. J., & Matteo, P. S. (2010)
Potassium Channels Implicated in the Short QT Syndrome
Adeniran, I. (2014) · Springer theses · doi:10.1007/978-3-319-07200-5_2
State of the Art Review Atrial Fibrillation: Basic Mechanisms, Remodeling and Triggers
Shiroshita-Takeshita, A., M, B. J. J., & Nattel, S. (2014)
Dysrhythmias and Sudden Death
Marı́n-Garcı́a, J. (2007) · Elsevier eBooks · doi:10.1016/b978-012373698-7/50017-6
Disturbances in cardiac electrical Systole and its relationship with sudden death
Breijo-Márquez, F. R. (2015)
Ventricular Tachycardiac and Sudden Arrhythmic Death
Sarquella‐Brugada, G., Campuzano, Ó., Berruezo, A., & Brugada, J. (2013) · Springer eBooks · doi:10.1007/978-1-4471-4619-3_138
Mort subite cardiaque d'origine génétique
Lupoglazoff, J., Denjoy, I., & Guicheney, P. (2006) · EMC - Cardiologie · doi:10.1016/s1166-4568(06)40578-7
ICD-Therapie
Roser, M., & Götze, S. (2007) · Der Kardiologe · doi:10.1007/s12181-007-0019-z
The Genetics of Cardiac Electrophysiology in Humans
Pyeritz, R. E. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00057-4
The Genetics of Cardiac Disease Associated with
Perrin, M. J., & Gollob, M. H. (2012)
Genetic Mechanisms of Arrhythmia
Priori, S. G., Napolitano, C., & MacRae, C. A. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-381510-1.00042-9
Risikostratifizierung des plötzlichen Herztodes mit Hilfe genetischer Einzelbasenpolymorphismen im Apelin- und Angiotensinogen-Gen
Medizin, A. I., Direktor, Ä., & Gawaz, M. (2012)
Structural Determinants and Biophysical Properties of hERG1 Channel Gating
Sanguinetti, M. C., Tristani‐Firouzi, M., & Sachse, F. B. (2013) · Elsevier eBooks · doi:10.1016/b978-1-4557-2856-5.00012-1
Genetics and Genomics of Arrhythmias
Towbin, J. A., & Vatta, M. (2010) · Elsevier eBooks · doi:10.1016/b978-0-12-374934-5.00029-5
Genetics of Inherited Arrhythmias
Priori, S. G., & Napolitano, C. (2007) · Elsevier eBooks · doi:10.1016/b978-1-4160-3358-5.50031-0
Congenital and Acquired Heart Disease
Marı́n-Garcı́a, J. (2007) · Elsevier eBooks · doi:10.1016/b978-012373698-7/50007-3
Long and Short QT Syndromes
Crotti, L., Kotta, M., & Castelletti, S. (2018) · Cardiac and vascular biology · doi:10.1007/978-3-319-77812-9_7
Asymptomatic Electrocardiogram Abnormalities
Sy, R., Skanes, A., & Klein, G. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-0285-9.00051-x
17 – ICD Therapy in Channelopathies
Berne, P., & Brugada, J. (2011) · Elsevier eBooks · doi:10.1016/b978-1-4377-1616-0.00017-5
Síncopes en el niño y adolescente
Vaksmann, G. (2016) · EMC - Pediatría · doi:10.1016/s1245-1789(16)78913-x
Troubles congénitaux du rythme cardiaque chez l’enfant. Quelles recommandations pour l’anesthésie ?
Vaksmann, G., Bouzguenda, I., & Richard, A. (2016) · Anesthésie & Réanimation · doi:10.1016/j.anrea.2016.08.005
Modelling the Effects of Disopyramide on Short QT Syndrome Variant 1 in the Human Ventricles
Whittaker, D. J., Ni, H., Benson, A. P., Hancox, J. C., & Zhang, H. (2016) · Computing in cardiology · doi:10.22489/cinc.2016.003-435
Ion Channelopathy Genetics
Gollob, M. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.99760-5 · Cited by 1
Sudden cardiac death among the young in Sweden 1992-1999 : from epidemiology to support of the bereaved
Wisten, A. (2005) · DiVA at Umeå University (Umeå University)
Short QT Syndrome and Early Repolarization
Watanabe, H. (2012) · Japanese Journal of Electrocardiology · doi:10.5105/jse.32.286 · Cited by 3
Inherited Cardiac Arrhythmia Role of Potassium Channels
Crotti, L., Insolia, R., & Schwartz, P. J. (2011)
Clinical Management of Inherited Arrhythmias
Jones, R., & Perez, M. V. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.99829-5
Functional Characteristics of Four Novel Lone Atrial Fibrillation-Linked Connexin40 Mutants
Noureldin, M. (2017) · Scholarship@Western (Western University)
Long QT Syndrome
Matassini, M. V., & Maolo, A. (2015) · Springer eBooks · doi:10.1007/978-3-319-19926-9_25
Inherited Conduction Disease and Atrial Fibrillation
Martin, C., & Lambiase, P. D. (2018) · Springer eBooks · doi:10.1007/978-3-319-66114-8_15
K+ Channelopathies (I Ks and I Kr)
Lindegger, N., & Kass, R. S. (2008) · Springer eBooks · doi:10.1007/978-1-84628-854-8_12
Biological Evaluation of Novel Pyridine derived Compounds - Exploring Cytotoxicity and Gene Targeting Activities
Filius, M. (2014)
Genetic Testing for Inheritable Cardiac Channelopathies
Kyndt, F., Gourraud, J., & Barc, J. (2018) · Cardiac and vascular biology · doi:10.1007/978-3-319-77812-9_13
Progress of Genomics in Cardiac Conduction and Rhythm Disorders
Xu, Z., Xiong, Q., Shen, Y., Hu, J., & Hong, K. (2018) · Translational bioinformatics · doi:10.1007/978-981-13-1429-2_9
Copyright and licensing of E-journals:
Makita, N. (2018) · Japanese Journal of Electrocardiology · doi:10.5105/jse.38.286
Modelling the Effects of Propafenone on Human Atrial Patho-Electrophysiology Associated With hERG-Linked Short QT Syndrome
Whittaker, D. J., Hancox, J. C., & Zhang, H. (2018) · Computing in cardiology · doi:10.22489/cinc.2018.133
The Short QT Syndrome
Scrocco, C., Gaita, F., & Giustetto, C. (2019) · Cardiac Repolarization · doi:10.1007/978-3-030-22672-5_18 · Cited by 32
Rare but lethal short QT syndrome: most recent understanding of the disease
Rico-Mesa, J. S., Qaysi, M. A., Sovic, W., Endo-Carvajal, M., & Badin, A. (2019) · Electronic Journal of General Medicine · doi:10.29333/ejgm/108495
Channelopathies in clinical medicine—cardiac arrhythmias
Ormerod, J. O. M., & Behr, E. R. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-809356-6.00009-5
Inheritable Potassium Channel Disease
Al‐Ahmad, A., & Wilde, A. A. M. (2013) · Elsevier eBooks · doi:10.1016/b978-1-4557-2856-5.00051-0
Genetics and Genomics of Arrhythmias
Towbin, J. A., & Vatta, M. (2009) · Elsevier eBooks · doi:10.1016/b978-0-12-369420-1.00062-7
The Channelopathies and Sudden Death
Gomes, J. (2020) · Springer eBooks · doi:10.1007/978-3-030-45066-3_19
Sudden infant death and electrophysiology abnormalities in young children
Dalal, A. S., & Silva, J. N. A. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-817728-0.00067-x
Mechanisms Underlying the Development of Cardiac Arrhythmias
Burashnikov, A., & Antzelevitch, C. N. (2020) · Contemporary cardiology · doi:10.1007/978-3-030-41967-7_2
Computational analysis of the effect of KCNH2 L532P mutation on ventricular electromechanical behaviors
Heikhmakhtiar, A. K., Dusturia, N., & Lim, K. M. (2021) · Journal of Electrocardiology · doi:10.1016/j.jelectrocard.2021.02.004
ellular basis for arrhythmogenesis in an experimental model of he SQT1 form of the short QT syndrome
Patel, H. (2008)
The Role of Genetics in Cardiomyopaties: A Review
Vernengo, L., & Topaloğlu, H. (2021) · IntechOpen eBooks · doi:10.5772/intechopen.97242
Sudden Cardiac Death in the Young
Ashworth, M. T. (2019) · Cambridge University Press eBooks · doi:10.1017/9781316337073.015
Genetic polymorphisms of pharmacogenomic VIP variants in Chinese Lisu populationPreprint
Lu, H., Wang, Y., Zhang, Z., Xing, S., Li, D., Wang, L., & Jin, T. (2021) · Research Square · doi:10.21203/rs.3.rs-942290/v1
Short QT Syndrome: Clinical Presentation, Molecular, Genetic, Cellular, and Ionic Basis
Patel, C., Yan, G.-X., & Antzelevitch, C. (2011) · Humana Press eBooks · doi:10.1007/978-1-60761-161-5_20
A Molecular Genetic Perspective on Atrial Fibrillation
Roberts, J. D., & Gollob, M. H. (2010) · Springer eBooks · doi:10.1007/978-1-84996-471-5_13
Kurze QT-Syndrome: Spiegelbilder der verlängerten Repolarisation
Schulze‐Bahr, E. (2006) · Steinkopff eBooks · doi:10.1007/3-7985-1632-4_8
Therapeutic Approaches in the Attenuation of Seizure-Induced Cardiomyopathy
Andreianova, A. A. (2015) · Otago University Research Archive (University of Otago)
Dégradation du canal KCNQ1 dans le syndrome du QT long : nouveaux partenaires des canaux KCNQ1 et SCN5A
Péroz, D. (2008) · OpenGrey (Institut de l'Information Scientifique et Technique)
Arrhythmias
London, B. (2007) · Humana Press eBooks · doi:10.1007/978-1-59259-963-9_18
Genetics of Sudden Cardiac Death, the Channelopathies: Today's Perspective and the Future
Alabdulgader, A. (2021) · Cardiology & Vascular Research · doi:10.33425/2639-8486.1115
Atrial Fibrillation
Rahm, A., Katus, H. A., & Thomas, D. (2018) · Cardiac and vascular biology · doi:10.1007/978-3-319-77812-9_12
A Molecular Genetic Perspective on Atrial Fibrillation
Roberts, J. D., & Gollob, M. H. (2020) · Springer eBooks · doi:10.1007/978-3-030-45457-9_18
Ion Conductance Through Potassium Channels
Köpfer, D. A. (2015) · doi:10.53846/goediss-5292
Short QT Syndrome
Gencher, J. A., Deif, B., & Roberts, J. D. (2020) · Springer eBooks · doi:10.1007/978-3-030-52173-8_3
Reconocimientos médicos para la actividad físico-deportiva
(2006) · Medicina de Familia SEMERGEN · doi:10.1016/s1138-3593(06)73241-5
Genetic Diseases
Estes, N. A. M., & Houzen, N. V. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-0285-9.00066-1

Authors: Brugada, R., Hong, K., Dumaine, R., Cordeiro, J., Gaita, F., Borggrefe, M., Menendez, T. M., Brugada, J., Pollevick, G. D., Wolpert, C., Burashnikov, E., Matsuo, K., Sheng Wu, Y., Guerchicoff, A., Bianchi, F., Giustetto, C., Schimpf, R., Brugada, P., & Antzelevitch, C.
Affiliations: From the Molecular Genetics (R.B., K.H., G.D.P., E.B., K.M., A.G.), Molecular Biology (R.D., Y.S.W.), and Experimental Cardiology (J.C., C.A.) Programs, Masonic Medical Research Laboratory, Utica, NY; Division of Cardiology (F.G., F.B., C.G.), Ospedale Mauriziano Umberto I, Torino, Italy; First Department of Medicine (M.B., C.W., R.S.), University Hospital Mannheim, University of Heidelberg, Mannheim, Germany; North Texas Heart Center (T.M.M.), Dallas, Tex; Arrhythmia Section (J.B.), Cardiovascular...
Heidelberg University (DE)
ORCID: Hong, Kui
Dumaine, Robert
Cordeiro, Jonathan
Borggrefe, Martin
Guerchicoff, Alejandra
Giustetto, Carla
Brugada, Pedro
Antzelevitch, Charles
Venue: Circulation
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2004-01-06
Volume: 109
Issue: 1
Pages: 30-35
ISSN: 0009-7322 (ISSN-L)
1524-4539
DOI: 10.1161/01.cir.0000109482.92774.3a
OpenAlex: W2129393568
Cited by: 847
References: 27
Citations by year: 2026: 6 · 2025: 15 · 2024: 22 · 2023: 16 · 2022: 14 · 2021: 25 · 2020: 31 · 2019: 22 · 2018: 29 · 2017: 48 · 2016: 29 · 2015: 28 · 2014: 35 · 2013: 48 · 2012: 58
FWCI: 31.40
Type: journal article
Language: en
Open access: closed
Locations: Circulation (publishedVersion)
PubMed (publishedVersion)
Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
VUBIR (Vrije Universiteit Brussel) (submittedVersion)
Topics: Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
Keywords: sudden cardiac death, short QT syndrome, hERG, KCNH2, gain-of-function mutations, ventricular arrhythmias, action potential duration, sudden infant death syndrome, drug interactions, hereditary arrhythmia
MeSH terms: ERG1 Potassium Channel, Adult, Arrhythmias, Cardiac, Cell Line, Electrocardiography, Female, Humans, Infant, Ion Channels, Male, Middle Aged, Syndrome, Death, Sudden, Cardiac, Genetic Heterogeneity, Mutation, Missense, Potassium Channels, Voltage-Gated, Ether-A-Go-Go Potassium Channels

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Sudden Death Associated With Short-QT Syndrome Linked to Mutations in HERG

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks