Molecular and genetic basis of sudden cardiac death

Genetic mutations and mechanisms in dilated cardiomyopathy

(2013) Elizabeth M. McNally et al.   JOURNAL OF CLINICAL INVESTIGATION

Decreased inward rectification of Kir2.1 channels is a novel mechanism underlying the short QT syndrome

(2012) S. Casini et al.   CARDIOVASCULAR RESEARCH

Epidemiology and Genetics of Sudden Cardiac Death

(2012) Rajat Deo et al.   CIRCULATION

Torsades de pointes following acute myocardial infarction: Evidence for a deadly link with a common genetic variant

(2012) Lia Crotti et al.   HEART RHYTHM

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

(2012) Nathalie Roux-Buisson et al.   HUMAN MOLECULAR GENETICS

Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes

(2012) A H Ramirez et al.   PHARMACOGENOMICS JOURNAL

Calsequestrin 2 and arrhythmias

(2011) Michela Faggioni et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Prevention of Ventricular Fibrillation Episodes in Brugada Syndrome by Catheter Ablation Over the Anterior Right Ventricular Outflow Tract Epicardium

(2011) Koonlawee Nademanee et al.   CIRCULATION

KCNE5 ( KCNE1L ) Variants Are Novel Modulators of Brugada Syndrome and Idiopathic Ventricular Fibrillation

(2011) Seiko Ohno et al.   Circulation-Arrhythmia and Electrophysiology

A Large Candidate Gene Survey Identifies the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes

(2011) Stefan Kääb et al.   Circulation-Cardiovascular Genetics

Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)

(2011) C. Templin et al.   EUROPEAN HEART JOURNAL

Transient outward current (Ito) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome

(2011) John R. Giudicessi et al.   HEART RHYTHM

Structural heterogeneity promotes triggered activity, reflection and arrhythmogenesis in cardiomyocyte monolayers

(2011) David S. Auerbach et al.   JOURNAL OF PHYSIOLOGY-LONDON

Identification of a Kir3.4 Mutation in Congenital Long QT Syndrome

(2010) Yanzong Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sudden Cardiac Death Prediction and Prevention

(2010) Glenn I. Fishman et al.   CIRCULATION

Gain-of-function mutation S422L in the KCNJ8-encoded cardiac KATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes

(2010) Argelia Medeiros-Domingo et al.   HEART RHYTHM

Increased Right Ventricular Repolarization Gradients Promote Arrhythmogenesis in a Murine Model of Brugada Syndrome

(2010) CLAIRE A. MARTIN et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

In vivo studies of Scn5a+/− mice modeling Brugada syndrome demonstrate both conduction and repolarization abnormalities

(2010) Claire A. Martin et al.   JOURNAL OF ELECTROCARDIOLOGY

Local Depolarization Abnormalities Are the Dominant Pathophysiologic Mechanism for Type 1 Electrocardiogram in Brugada Syndrome

(2010) Pieter G. Postema et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Drug-Induced Long QT Syndrome

(2010) P. Kannankeril et al.   PHARMACOLOGICAL REVIEWS

Variable Nav1.5 Protein Expression from the Wild-Type Allele Correlates with the Penetrance of Cardiac Conduction Disease in the Scn5a+/− Mouse Model

(2010) Anne-Laure Leoni et al.   PLoS One

GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A

(2009) Carmen R. Valdivia et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Determinants of Prolonged QT Interval and Their Contribution to Sudden Death Risk in Coronary Artery Disease

(2009) Sumeet S. Chugh et al.   CIRCULATION

Prevalence of the Congenital Long-QT Syndrome

(2009) Peter J. Schwartz et al.   CIRCULATION

Cardiac Na + Current Regulation by Pyridine Nucleotides

(2009) Man Liu et al.   CIRCULATION RESEARCH

α1-Syntrophin Mutations Identified in Sudden Infant Death Syndrome Cause an Increase in Late Cardiac Sodium Current

(2009) Jianding Cheng et al.   Circulation-Arrhythmia and Electrophysiology

Latent Genetic Backgrounds and Molecular Pathogenesis in Drug-Induced Long-QT Syndrome

(2009) Hideki Itoh et al.   Circulation-Arrhythmia and Electrophysiology

A Mutation in the β3 Subunit of the Cardiac Sodium Channel Associated With Brugada ECG Phenotype

(2009) Dan Hu et al.   Circulation-Cardiovascular Genetics

Common genetic variants in sudden cardiac death

(2009) Alfred L. George   HEART RHYTHM

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test

(2009) Jamie D. Kapplinger et al.   HEART RHYTHM

Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome

(2009) Jonathan M. Cordeiro et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

 -Adrenergic signaling accelerates and synchronizes cardiac ryanodine receptor response to a single L-type Ca2+ channel

(2009) P. Zhou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ablation of triadin causes loss of cardiac Ca2+ release units, impaired excitation-contraction coupling, and cardiac arrhythmias

(2009) N. Chopra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deficient Zebrafish Ether-à-Go-Go –Related Gene Channel Gating Causes Short-QT Syndrome in Zebrafish Reggae Mutants

(2008) David Hassel et al.   CIRCULATION

Proarrhythmic Defects in Timothy Syndrome Require Calmodulin Kinase II

(2008) William H. Thiel et al.   CIRCULATION

Unexpected Structural and Functional Consequences of the R33Q Homozygous Mutation in Cardiac Calsequestrin

(2008) Nicoletta Rizzi et al.   CIRCULATION RESEARCH

Increased Ca 2+ Sensitivity of the Ryanodine Receptor Mutant RyR2 R4496C Underlies Catecholaminergic Polymorphic Ventricular Tachycardia

(2008) María Fernández-Velasco et al.   CIRCULATION RESEARCH

Slow and Discontinuous Conduction Conspire in Brugada Syndrome

(2008) Pieter G. Postema et al.   Circulation-Arrhythmia and Electrophysiology

Cardiac fibrillation: From ion channels to rotors in the human heart

(2008) Miguel Vaquero et al.   HEART RHYTHM

Ranolazine Shortens Repolarization in Patients with Sustained Inward Sodium Current Due to Type-3 Long-QT Syndrome

(2008) ARTHUR J. MOSS et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels

(2008) C. F. Barrett et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex

(2008) K. Ueda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular basis of ranolazine block of LQT-3 mutant sodium channels: evidence for site of action

(2006) Sandra Fredj et al.   BRITISH JOURNAL OF PHARMACOLOGY