Associated Papers
Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants.
Martínez-Barrios E et al.
International Journal of Molecular Sciences, 2026
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
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
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
Multiple mechanisms underlie increased cardiac late sodium current.
Kroncke BM et al.
Heart Rhythm, 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
An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation.
Blancard M et al.
Scientific Reports, 2018
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Huang W et al.
Protein & Cell, 2017
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 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
CaMKII-dependent regulation of cardiac Na(+) homeostasis.
Grandi E et al.
Frontiers in Pharmacology, 2014
Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.
Calloe K et al.
Circulation. Arrhythmia and Electrophysiology, 2013
The disease-specific phenotype in cardiomyocytes derived from induced pluripotent stem cells of two long QT syndrome type 3 patients.
Fatima A et al.
Plos One, 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
Enhanced impact of SCN5A mutation associated with long QT syndrome in fetal splice isoform.
Wang T et al.
Heart Rhythm, 2012
Pathophysiology of the cardiac late Na current and its potential as a drug target.
Moreno JD et al.
Journal of Molecular and Cellular Cardiology, 2012
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
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009
Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.
Itoh H et al.
Circulation. Arrhythmia and Electrophysiology, 2009
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
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
Millat G et al.
Clinical Genetics, 2006
Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia.
Maekawa K et al.
Annals of Human Genetics, 2005
[Neonatal forms of congenital long QT syndrome].
Lupoglazoff JM et al.
Archives Des Maladies Du Coeur Et Des Vaisseaux, 2004
Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.
Lupoglazoff JM et al.
Journal of the American College of Cardiology, 2004
A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating.
Wehrens XH et al.
Human Mutation, 2003
Genetic control of sodium channel function.
Tan HL et al.
Cardiovascular Research, 2003
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0