Novel Brugada SCN5A mutation causing sudden death in children.

PubWeight™: 0.78‹?›

🔗 View Article (PMID 15840483)

Published in Heart Rhythm on May 01, 2005

Authors

Stephanie J Todd1, M Jay Campbell, Dan M Roden, Prince J Kannankeril

Author Affiliations

1: Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee 37232-9119, USA.

Articles by these authors

The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics (2011) 9.20

Genetic determinants of response to warfarin during initial anticoagulation. N Engl J Med (2008) 7.13

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics (2010) 7.07

Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. Am J Hum Genet (2010) 6.44

ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (writing committee to develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death): developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Circulation (2006) 5.95

ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death). J Am Coll Cardiol (2006) 5.81

Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med (2014) 4.94

Implementing genomic medicine in the clinic: the future is here. Genet Med (2013) 4.89

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol (2013) 4.85

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med (2013) 4.37

Concern Calmodulin kinase II and arrhythmias in a mouse model of cardiac hypertrophy. Circulation (2002) 4.16

Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia. J Clin Invest (2006) 4.06

A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose. Blood (2008) 4.02

Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet (2010) 3.97

A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat Genet (2011) 3.94

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. N Engl J Med (2016) 3.88

Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. Am J Hum Genet (2011) 3.85

Principles of human subjects protections applied in an opt-out, de-identified biobank. Clin Transl Sci (2010) 3.84

Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet (2012) 3.71

Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans. Nat Med (2009) 3.35

Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. Circulation (2010) 3.35

Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Lancet (2013) 3.21

ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death) developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Europace (2006) 3.11

Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation (2002) 2.98

Sudden cardiac death prediction and prevention: report from a National Heart, Lung, and Blood Institute and Heart Rhythm Society Workshop. Circulation (2010) 2.94

KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. Circulation (2005) 2.78

Metabolic syndrome and risk of development of atrial fibrillation: the Niigata preventive medicine study. Circulation (2008) 2.72

Common sodium channel promoter haplotype in asian subjects underlies variability in cardiac conduction. Circulation (2006) 2.72

Polymorphism modulates symptomatic response to antiarrhythmic drug therapy in patients with lone atrial fibrillation. Heart Rhythm (2007) 2.62

Blocking Scn10a channels in heart reduces late sodium current and is antiarrhythmic. Circ Res (2012) 2.61

Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation (2008) 2.56

Drug-induced long QT syndrome. Pharmacol Rev (2010) 2.55

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest (2008) 2.54

ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death--executive summary: A report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death) Developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Eur Heart J (2006) 2.54

Prevention of torsade de pointes in hospital settings: a scientific statement from the American Heart Association and the American College of Cardiology Foundation. Circulation (2010) 2.49

Prevention of torsade de pointes in hospital settings: a scientific statement from the American Heart Association and the American College of Cardiology Foundation. J Am Coll Cardiol (2010) 2.41

Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes. Circulation (2007) 2.38

Identifying genetic risk factors for serious adverse drug reactions: current progress and challenges. Nat Rev Drug Discov (2007) 2.32

Unmasking of brugada syndrome by lithium. Circulation (2005) 2.30

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. Circulation (2003) 2.28

Modest reductions of cardiac calsequestrin increase sarcoplasmic reticulum Ca2+ leak independent of luminal Ca2+ and trigger ventricular arrhythmias in mice. Circ Res (2007) 2.18

Assessment of autonomic function in cardiovascular disease: physiological basis and prognostic implications. J Am Coll Cardiol (2008) 2.10

Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records. Genet Med (2010) 2.09

Antitachycardia pacing reduces appropriate and inappropriate shocks in children and congenital heart disease patients. Heart Rhythm (2012) 2.07

Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. Circulation (2013) 2.06

Large scale replication and meta-analysis of variants on chromosome 4q25 associated with atrial fibrillation. Eur Heart J (2009) 2.06

Drug-induced torsades de pointes and implications for drug development. J Cardiovasc Electrophysiol (2004) 2.05

Drug-induced long QT and torsade de pointes: recent advances. Curr Opin Cardiol (2007) 2.04

Relative contribution of CYP2C9 and VKORC1 genotypes and early INR response to the prediction of warfarin sensitivity during initiation of therapy. Blood (2008) 1.99

Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org). Heart Rhythm (2009) 1.92

Flecainide therapy reduces exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia. J Am Coll Cardiol (2011) 1.89

High prevalence of early repolarization in short QT syndrome. Heart Rhythm (2010) 1.87

Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds. Heart Rhythm (2010) 1.87

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. Nat Genet (2013) 1.86

Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy. Proc Natl Acad Sci U S A (2006) 1.85

When good drugs go bad. Nature (2007) 1.85

Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation. J Am Coll Cardiol (2012) 1.84

A calcium sensor in the sodium channel modulates cardiac excitability. Nature (2002) 1.83

Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system. J Clin Invest (2004) 1.80

Prospective evaluation of a pharmacogenetics-guided warfarin loading and maintenance dose regimen for initiation of therapy. Blood (2011) 1.77

Prolonged signal-averaged P-wave duration as an intermediate phenotype for familial atrial fibrillation. J Am Coll Cardiol (2008) 1.77

Novel KCNA5 mutation implicates tyrosine kinase signaling in human atrial fibrillation. Heart Rhythm (2010) 1.77

Plasminogen activator inhibitor-1 as a predictor of postoperative atrial fibrillation after cardiopulmonary bypass. Circulation (2007) 1.73

The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest (2008) 1.69

Facilitating pharmacogenetic studies using electronic health records and natural-language processing: a case study of warfarin. J Am Med Inform Assoc (2011) 1.67

Factors affecting the degree of QT prolongation with drug challenge in a large cohort of normal volunteers. Heart Rhythm (2011) 1.66

Predicting warfarin dosage in European-Americans and African-Americans using DNA samples linked to an electronic health record. Pharmacogenomics (2012) 1.66

Development of the cardiac conduction system as delineated by minK-lacZ. J Cardiovasc Electrophysiol (2003) 1.65

Calmodulin kinase II activity is required for normal atrioventricular nodal conduction. Heart Rhythm (2005) 1.63

Increased late sodium current contributes to long QT-related arrhythmia susceptibility in female mice. Cardiovasc Res (2012) 1.60

Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery. Circ Cardiovasc Genet (2009) 1.59

Symptomatic burden as an endpoint to evaluate interventions in patients with atrial fibrillation. Heart Rhythm (2005) 1.58

Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family. Heart Rhythm (2006) 1.57

Calmodulin inhibitor W-7 unmasks a novel electrocardiographic parameter that predicts initiation of torsade de pointes. Circulation (2002) 1.57

Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. Circ Arrhythm Electrophysiol (2009) 1.56

Catecholaminergic polymorphic ventricular tachycardia in children: analysis of therapeutic strategies and outcomes from an international multicenter registry. Circ Arrhythm Electrophysiol (2015) 1.56

ACE I/D polymorphism associated with abnormal atrial and atrioventricular conduction in lone atrial fibrillation and structural heart disease: implications for electrical remodeling. Heart Rhythm (2009) 1.55

The Lambeth Conventions (II): guidelines for the study of animal and human ventricular and supraventricular arrhythmias. Pharmacol Ther (2013) 1.50

Electronic health record design and implementation for pharmacogenomics: a local perspective. Genet Med (2013) 1.48

Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. Circulation (2005) 1.48

A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes. Circ Cardiovasc Genet (2011) 1.48

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. Hum Genet (2013) 1.47

Cardiac-specific overexpression of AT1 receptor mutant lacking G alpha q/G alpha i coupling causes hypertrophy and bradycardia in transgenic mice. J Clin Invest (2005) 1.45

A genetic framework for improving arrhythmia therapy. Nature (2008) 1.45

Assessment of parasympathetic reactivation after exercise. Am J Physiol Heart Circ Physiol (2006) 1.44

Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks. PLoS One (2011) 1.42

Leveraging the electronic health record to implement genomic medicine. Genet Med (2012) 1.42

An analytical approach to characterize morbidity profile dissimilarity between distinct cohorts using electronic medical records. J Biomed Inform (2010) 1.42

Close bidirectional relationship between chronic kidney disease and atrial fibrillation: the Niigata preventive medicine study. Am Heart J (2009) 1.41

Drug-sensitized zebrafish screen identifies multiple genes, including GINS3, as regulators of myocardial repolarization. Circulation (2009) 1.41

Opioid use after cardiac surgery in children with Down syndrome. Pediatr Crit Care Med (2013) 1.40

Isoproterenol administration during general anesthesia for the evaluation of children with ventricular preexcitation. Circ Arrhythm Electrophysiol (2010) 1.39

Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro. Circulation (2011) 1.38

Modulators of normal electrocardiographic intervals identified in a large electronic medical record. Heart Rhythm (2010) 1.35