Associated Papers
SCN5A missense variants and their contribution to deaths in Sudden Unexplained Nocturnal Death Syndrome (SUNDS).
Chaloemthanetphong A et al.
Forensic Science International. Genetics, 2025
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
Challenges in Brugada Syndrome Stratification: Investigating SCN5A Mutation Localization and Clinical Phenotypes.
Tarantino A et al.
International Journal of Molecular Sciences, 2023
Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na V 1.5).
Lopes-Marques M et al.
Peerj, 2022
Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R.
Hu RM et al.
Channels (austin, Tex.), 2021
The role of sodium channels in sudden unexpected death in pediatrics.
Rochtus AM et al.
Molecular Genetics & Genomic Medicine, 2020
Cannabinoid-Induced Brugada Syndrome: A Case Report.
Stockholm SC et al.
Cureus, 2020
Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes.
Frasier CR et al.
Stem Cell Reports, 2018
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
pH Modulation of Voltage-Gated Sodium Channels.
Peters CH et al.
Handbook of Experimental Pharmacology, 2018
Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.
Ioakeimidis NS et al.
Journal of Biological Research (thessalonike, Greece), 2017
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Huang W et al.
Protein & Cell, 2017
The biophysical characterization of the first SCN5A mutation R1512W identified in Chinese sudden unexplained nocturnal death syndrome.
Zheng J et al.
Medicine, 2016
Triggers for arrhythmogenesis in the Brugada and long QT 3 syndromes.
Peters CH et al.
Progress in Biophysics and Molecular Biology, 2016
Impact of follicle-stimulating hormone receptor variants in female infertility.
Ilgaz NS et al.
Journal of Assisted Reproduction and 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
Regulation of the cardiac Na+ channel NaV1.5 by post-translational modifications.
Marionneau C et al.
Journal of Molecular and Cellular Cardiology, 2015
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis.
Hu RM et al.
Plos One, 2015
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
Characterization of 2 genetic variants of Na(v) 1.5-arginine 689 found in patients with cardiac arrhythmias.
Sottas V et al.
Journal of Cardiovascular Electrophysiology, 2013
Cardiac ion channelopathies and the sudden infant death syndrome.
Wilders R
Isrn Cardiology, 2012
The cardiac sodium channel is post-translationally modified by arginine methylation.
Beltran-Alvarez P et al.
Journal of Proteome Research, 2011
The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current.
Cheng J et al.
Physiological Genomics, 2011
Alternative splicing of the cardiac sodium channel creates multiple variants of mutant T1620K channels.
Walzik S et al.
Plos One, 2011
A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.
Shinlapawittayatorn K et al.
Heart Rhythm, 2011
Cardiac channelopathies and sudden infant death syndrome.
Tfelt-Hansen J et al.
Cardiology, 2011
SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.
Cheng J et al.
Clinical and Translational Science, 2010
Structure and function of splice variants of the cardiac voltage-gated sodium channel Na(v)1.5.
Schroeter A et al.
Journal of Molecular and Cellular Cardiology, 2010
Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.
Arnestad M et al.
Circulation, 2007
Cardiac sodium channel dysfunction in sudden infant death syndrome.
Wang DW et al.
Circulation, 2007
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0