Associated Papers
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
In Vivo Base Editing of Scn5a Rescues Type 3 Long QT Syndrome in Mice.
Qi M et al.
Circulation, 2024
Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.
Ma JG et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.
Burr R et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Comprehensive Molecular Characterization of Soft Tissue Sarcoma for Prediction of Pazopanib-Based Treatment Response.
Hong JY et al.
Cancer Research and Treatment, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 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
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.
Wijeyeratne YD et al.
Circulation. Genomic and Precision Medicine, 2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
High-Throughput Reclassification of SCN5A Variants.
Glazer AM et al.
American Journal of Human Genetics, 2020
Deep Mutational Scan of an SCN5A Voltage Sensor.
Glazer AM et al.
Circulation. Genomic and Precision Medicine, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Phenotypic Characterization of Individuals With Variants in Cardiovascular Genes in the Absence of a Primary Cardiovascular Indication for Testing.
Hylind RJ et al.
Circulation. Genomic and Precision Medicine, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy.
Verdonschot JAJ et al.
Circulation. Heart Failure, 2018
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Sodium-channel blocker challenge in the familial screening of Brugada syndrome: Safety and predictors of positivity.
Therasse D et al.
Heart Rhythm, 2017
Direct Measurement of Cardiac Na+ Channel Conformations Reveals Molecular Pathologies of Inherited Mutations.
Varga Z et al.
Circulation. Arrhythmia and Electrophysiology, 2015
Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.
Kapplinger JD et al.
Circulation. Cardiovascular Genetics, 2015
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU et al.
Bmc Medical Genetics, 2015
p.Y1449C SCN5A mutation associated with overlap disorder comprising conduction disease, Brugada syndrome, and atrial flutter.
Hothi SS et al.
Journal of Cardiovascular Electrophysiology, 2015
Fever-induced atrial flutter associated with SCN5A mutation--a first report on successful catheter ablation in a very young child.
Hassink RJ et al.
International Journal of Cardiology, 2014
A diagnostic dilemma: early repolarization syndrome associated with ventricular fibrillation.
Koza Y et al.
Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir, 2014
The diagnostic and therapeutic aspects of loss-of-function cardiac sodium channelopathies in children.
Chockalingam P et al.
Heart Rhythm, 2012
State of the art in forensic investigation of sudden cardiac death.
Oliva A et al.
The American Journal of Forensic Medicine and Pathology, 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
Mechanism of right precordial ST-segment elevation in structural heart disease: excitation failure by current-to-load mismatch.
Hoogendijk MG et al.
Heart Rhythm, 2010
SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome.
Probst V et al.
Circulation. Cardiovascular Genetics, 2009
Phenotypic overlap of cardiac sodium channelopathies: individual-specific or mutation-specific?
Makita N
Circulation Journal : Official Journal of the Japanese Circulation Society, 2009
Dynamic change in ST-segment and spontaneous occurrence of ventricular fibrillation in Brugada syndrome with a novel nonsense mutation in the SCN5A gene during long-term follow-up.
Kawamura M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2009
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
Meregalli PG et al.
Heart Rhythm, 2009
Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations.
Remme CA et al.
Trends in Cardiovascular Medicine, 2008
Early repolarization syndrome: is it always benign?
Letsas KP et al.
International Journal of Cardiology, 2007
Exercise-induced ventricular tachycardia associated with J point ST-segment elevation in inferior leads in a patient without apparent heart disease: a variant form of Brugada syndrome?
Ozeke O et al.
Journal of Electrocardiology, 2006
Paradoxical effect of ajmaline in a patient with Brugada syndrome.
Sassone B 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, 2006
Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation.
Probst V et al.
Journal of Cardiovascular Electrophysiology, 2006
Novel brugada SCN5A mutation leading to ST segment elevation in the inferior or the right precordial leads.
Potet F et al.
Journal of Cardiovascular Electrophysiology, 2003
Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.
Smits JP et al.
Journal of the American College of Cardiology, 2002