Associated Papers
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Dual receptor-sites reveal the structural basis for hyperactivation of sodium channels by poison-dart toxin batrachotoxin.
Tonggu L et al.
Nature Communications, 2024
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication.
Stutzman MJ et al.
Heartrhythm Case Reports, 2019
CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases.
Nicora G et al.
Human Mutation, 2018
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry.
Chen CJ et al.
Frontiers in Genetics, 2018
Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths.
Lin Y et al.
Circulation. Cardiovascular Genetics, 2017
Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?
Roberts JD et al.
Circulation. Arrhythmia and Electrophysiology, 2017
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Huang W et al.
Protein & Cell, 2017
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
Monomorphic ventricular tachycardia in patients with Brugada syndrome: A multicenter retrospective study.
Rodríguez-Mañero M et al.
Heart Rhythm, 2016
Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population.
Thongnak C et al.
Disease Markers, 2016
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
A comprehensive electrocardiographic, molecular, and echocardiographic study of Brugada syndrome: validation of the 2013 diagnostic criteria.
Savastano S et al.
Heart Rhythm, 2014
Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.
Wang D et al.
Forensic Science International, 2014
Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome.
Juang JM et al.
Scientific Reports, 2014
A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.
García-Molina E et al.
Clinical Genetics, 2013
Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome.
Gütter C et al.
Frontiers in Physiology, 2013
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.
Crotti L et al.
Journal of the American College of Cardiology, 2012
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
Genetic analysis of Brugada syndrome and congenital long-QT syndrome type 3 in the Chinese.
Liang P et al.
Journal of Cardiovascular Disease Research, 2010
Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.
Medeiros-Domingo A et al.
Heart Rhythm, 2009
In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular tachycardia: compound effects of hERG pore region mutation and SCN5A N-terminus variant.
Lin MT et al.
Heart Rhythm, 2008
Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease.
Schulze-Bahr E et al.
Human Mutation, 2003
Genetic control of sodium channel function.
Tan HL et al.
Cardiovascular Research, 2003
[Brugada's syndrome: epidemiology, risk stratification, and clinical management].
Grillo M et al.
Italian Heart Journal. Supplement : Official Journal of the Italian Federation of Cardiology, 2002
Natural history of Brugada syndrome: insights for risk stratification and management.
Priori SG et al.
Circulation, 2002
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0