Associated Papers
Genetic variants associated with ventricular arrhythmias during ajmaline test in Brugada syndrome.
Audiat C et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2025
Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome.
Rieder M et al.
Frontiers in Cardiovascular Medicine, 2022
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Michorowska S
Pharmaceuticals (basel, Switzerland), 2021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome.
Micaglio E et al.
International Journal of Molecular Sciences, 2019
Prolonged Right Ventricular Ejection Delay in Brugada Syndrome Depends on the Type of SCN5A Variant - Electromechanical Coupling Through Tissue Velocity Imaging as a Bridge Between Genotyping and Phenotyping.
Van Malderen SCH et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2017
Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.
Balijepalli SY et al.
Journal of Cardiovascular Pharmacology, 2010
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010
Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy.
Johnson JN et al.
Neurology, 2009
DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.
Jongbloed R et al.
Human Mutation, 2002