Associated Papers
Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.
Surget E et al.
Heart Rhythm O2, 2025
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Phase 2 Re-Entry Without Ito: Role of Sodium Channel Kinetics in Brugada Syndrome Arrhythmias.
Zhang Z et al.
Jacc. Clinical Electrophysiology, 2023
Ca2+-dependent modulation of voltage-gated myocyte sodium channels.
Salvage SC et al.
Biochemical Society Transactions, 2021
Calmodulin Interactions with Voltage-Gated Sodium Channels.
Wu X et al.
International Journal of Molecular Sciences, 2021
Structural basis of cytoplasmic NaV1.5 and NaV1.4 regulation.
Nathan S et al.
The Journal of General Physiology, 2021
Pathogenic mutations perturb calmodulin regulation of Nav1.8 channel.
Hong L et al.
Biochemical and Biophysical Research Communications, 2020
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Mutations in NaV1.5 Reveal Calcium-Calmodulin Regulation of Sodium Channel.
Nof E et al.
Frontiers in Physiology, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
SCN5A Variants: Association With Cardiac Disorders.
Li W et al.
Frontiers in Physiology, 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
Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project.
Sanderson SC et al.
European Journal of Human Genetics : Ejhg, 2017
Current view on regulation of voltage-gated sodium channels by calcium and auxiliary proteins.
Pitt GS et al.
Protein Science : a Publication of the Protein Society, 2016
Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture.
Chiang DY et al.
Circulation. Arrhythmia and Electrophysiology, 2015
Absence of family history and phenotype-genotype correlation in pediatric Brugada syndrome: more burden to bear in clinical and genetic diagnosis.
Daimi H et al.
Pediatric Cardiology, 2015
Genetic engineering of somatic cells to study and improve cardiac function.
Kirkton RD 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, 2012
Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome.
Amin AS 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, 2011
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.
Wilde AA et al.
Circulation Research, 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
Functional Interactions between Distinct Sodium Channel Cytoplasmic Domains through the Action of Calmodulin.
Potet F et al.
The Journal of Biological Chemistry, 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
Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation.
Casini S et al.
Cardiovascular Research, 2007
Recombinase-mediated cassette exchange to rapidly and efficiently generate mice with human cardiac sodium channels.
Liu K et al.
Genesis (new York, N.y. : 2000), 2006
Calcium-dependent regulation of the voltage-gated sodium channel hH1: intrinsic and extrinsic sensors use a common molecular switch.
Shah VN et al.
Proceedings of the National Academy of Sciences of the United States of America, 2006
From mutation to clinical presentation: mechanisms in the black box.
Zhu ZI et al.
Journal of Molecular and Cellular Cardiology, 2005
Regulation of the voltage-gated cardiac sodium channel Nav1.5 by interacting proteins.
Abriel H et al.
Trends in Cardiovascular Medicine, 2005
Calmodulin mediates Ca2+ sensitivity of sodium channels.
Kim J et al.
The Journal of Biological Chemistry, 2004
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
General anaesthesia in a patient with Brugada syndrome.
Edge CJ et al.
British Journal of Anaesthesia, 2002
Brugada syndrome: in search of a genotype-phenotype relationship.
Smits JP et al.
Herzschrittmachertherapie & Elektrophysiologie, 2002
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
A calcium sensor in the sodium channel modulates cardiac excitability.
Tan HL et al.
Nature, 2002
Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.
Rivolta I et al.
The Journal of Biological Chemistry, 2001
Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G).
Baroudi G et al.
Circulation Research, 2001
The Brugada syndrome: diagnostic criteria and cellular mechanisms.
Antzelevitch C
European Heart Journal, 2001
Cardiac sodium channel and inherited arrhythmia syndromes.
Bezzina CR et al.
Cardiovascular Research, 2001
Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation.
Wan X et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2001
A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome.
Akai J et al.
Febs Letters, 2000
Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.
Rook MB et al.
Cardiovascular Research, 1999
"Brugada" syndrome: clinical data and suggested pathophysiological mechanism.
Alings M et al.
Circulation, 1999
Genetic mutations and arrhythmia: simulation from DNA to electrocardiogram.
Zhu ZI et al.
Journal of Electrocardiology, 0
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0