Associated Papers
Mutation-specific roles of sustained sodium current (INa) in guiding precision medicine for long QT syndrome type 3.
Auvichayapat V et al.
Pnas Nexus, 2025
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
Investigating cardiac genetic background in sudden infant death syndrome (SIDS).
Cazzato F et al.
International Journal of Legal Medicine, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Genetic risk factors for drug-induced long QT syndrome: findings from a large real-world case-control study.
Lopez-Medina AI et al.
Pharmacogenomics, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
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
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Hawley MH et al.
Human Mutation, 2020
Structural Abnormalities on Cardiac Magnetic Resonance Imaging in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia.
Gerber DA et al.
Jacc. Clinical Electrophysiology, 2020
SCN5A mutation G615E results in NaV1.5 voltage-gated sodium channels with normal voltage-dependent function yet loss of mechanosensitivity.
Strege PR et al.
Channels (austin, Tex.), 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.
Son MJ et al.
Journal of Korean Medical Science, 2018
Dysfunctional Nav1.5 channels due to SCN5A mutations.
Han D et al.
Experimental Biology and Medicine (maywood, N.j.), 2018
Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths.
Munroe PB et al.
Circulation. Genomic and Precision Medicine, 2018
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Lidocaine attenuation testing: An in vivo investigation of putative LQT3-associated variants in the SCN5A-encoded sodium channel.
Anderson HN et al.
Heart Rhythm, 2017
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Huang W et al.
Protein & Cell, 2017
Ion channelopathies in functional GI disorders.
Beyder A et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2016
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.
Methner DN et al.
Genome Research, 2016
The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance.
Gourraud JB et al.
Frontiers in Cardiovascular Medicine, 2016
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 2016
The UK10K project identifies rare variants in health and disease.
Walter K et al.
Nature, 2015
The role of the SCN5A-encoded channelopathy in irritable bowel syndrome and other gastrointestinal disorders.
Verstraelen TE et al.
Neurogastroenterology and Motility, 2015
Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.
Le Scouarnec S et al.
Human Molecular Genetics, 2015
Clinical association between pharmacogenomics and adverse drug reactions.
Zhou ZW et al.
Drugs, 2015
Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome.
Beyder A et al.
Gastroenterology, 2014
The genetics of pro-arrhythmic adverse drug reactions.
Petropoulou E et al.
British Journal of Clinical Pharmacology, 2014
Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes.
Ramirez AH et al.
The Pharmacogenomics Journal, 2013
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.
Calloe K et al.
Circulation. Arrhythmia and Electrophysiology, 2013
High prevalence of genetic variants previously associated with LQT syndrome in new exome data.
Refsgaard L et al.
European Journal of Human Genetics : Ejhg, 2012
Pharmacogenomics of cardiovascular drugs and adverse effects in pediatrics.
Visscher H et al.
Journal of Cardiovascular Pharmacology, 2011
The cardiac sodium channel is post-translationally modified by arginine methylation.
Beltran-Alvarez P et al.
Journal of Proteome Research, 2011
A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.
Shinlapawittayatorn K et al.
Heart Rhythm, 2011
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 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
Cardiac sodium channel gene variants and sudden cardiac death in women.
Albert CM et al.
Circulation, 2008
Pharmacogenetics of drug-induced arrhythmias.
Abbott GW et al.
Expert Review of Clinical Pharmacology, 2008
Role of sodium channels in propagation in heart muscle: how subtle genetic alterations result in major arrhythmic disorders.
Terrenoire C et al.
Journal of Cardiovascular Electrophysiology, 2007
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
Risk factors for drug-induced long-QT syndrome.
Paulussen AD et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2005
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
Paulussen AD et al.
Journal of Molecular Medicine (berlin, Germany), 2004