An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

Jamie D. Kapplinger, David J. Tester, Mariëlle Alders, +26

Heart Rhythm

ChannelopathiesCardiomyopathyGenetic DisorderGeneticsPhysiology +5

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Connie R. Bezzina, Julien Barc, Yuka Mizusawa, +62

Nature Genetics

CardiomyopathyGenetic DisorderGeneticsGenetic EpidemiologyMolecular Genetics +7

Mutational spectrum in the Ca2+-activated cation channel gene TRPM4 in patients with cardiac conductance disturbances

Birgit Stallmeyer, Sven Zumhagen, Isabelle Denjoy, +9

Human Mutation

Cardiac MuscleHeart FailureGeneticsGenetic EpidemiologyPathology +28

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

Stefan Kääb, Dana C. Crawford, Moritz F. Sinner, +37

Circulation Cardiovascular Genetics

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

Najim Lahrouchi, Rafik Tadros, Lia Crotti, +103

Circulation

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Roddy Walsh, Najim Lahrouchi, Florence Kyndt, +107

Genetics in Medicine

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome

Konstantin Wemhöner, Corinna Friedrich, Birgit Stallmeyer, +9

Journal of Molecular and Cellular Cardiology

ChannelopathiesGeneticsMolecular BiologyIon ChannelsTimothy Syndrome +4

Sodium permeable and “hypersensitive” <scp>TREK</scp> ‐1 channels cause ventricular tachycardia

Niels Decher, Beatriz Ortiz‐Bonnin, Corinna Friedrich, +14

EMBO Molecular Medicine

Gain‐of‐function mutation in <scp>TASK</scp> ‐4 channels and severe cardiac conduction disorder

Corinna Friedrich, Susanne Rinné, Sven Zumhagen, +6

EMBO Molecular Medicine

Genome Wide Analysis of Drug-Induced Torsades de Pointes: Lack of Common Variants with Large Effect Sizes

Elijah R. Behr, Marylyn D. Ritchie, Toshihiro Tanaka, +31

PLoS ONE

Single Nucleotide PolymorphismMarked ProlongationGeneticsGenetic EpidemiologyGenome Wide Analysis +27