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
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory.
Stava TT et al.
Clinical Genetics, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
The role of sodium channels in sudden unexpected death in pediatrics.
Rochtus AM et al.
Molecular Genetics & Genomic Medicine, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
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
Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.
Tester DJ et al.
Journal of the American College of Cardiology, 2018
SCN5A Variants: Association With Cardiac Disorders.
Li W et al.
Frontiers in Physiology, 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
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
Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.
Gaunt TR et al.
Circulation. Cardiovascular Genetics, 2012
Cardiac ion channelopathies and the sudden infant death syndrome.
Wilders R
Isrn Cardiology, 2012
Cardiac ion channel mutations in the sudden infant death syndrome.
Klaver EC et al.
International Journal of Cardiology, 2011
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
Contribution of long-QT syndrome genetic variants in sudden infant death syndrome.
Millat G et al.
Pediatric Cardiology, 2009
Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.
Huang H et al.
Febs Letters, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Sudden infant death syndrome: do ion channels play a role?
Van Norstrand DW et al.
Heart Rhythm, 2009
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.
Benito B et al.
Heart Rhythm, 2008
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.
Darbar D et al.
Circulation, 2008
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.
Cronk LB et al.
Heart Rhythm, 2007
Cardiac sodium channel dysfunction in sudden infant death syndrome.
Wang DW et al.
Circulation, 2007
Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study.
Wedekind H et al.
International Journal of Legal Medicine, 2006
The long QT syndrome family of cardiac ion channelopathies: a HuGE review.
Modell SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Sudden infant death syndrome: how significant are the cardiac channelopathies?
Tester DJ et al.
Cardiovascular Research, 2005
Novel isoforms of the sodium channels Nav1.8 and Nav1.5 are produced by a conserved mechanism in mouse and rat.
Kerr NC et al.
The Journal of Biological Chemistry, 2004
Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Nav1.4 channel.
Kuzmenkin A et al.
Pflugers Archiv : European Journal of Physiology, 2003
Contribution of sodium channel mutations to bradycardia and sinus node dysfunction in LQT3 families.
Veldkamp MW et al.
Circulation Research, 2003
Genetic control of sodium channel function.
Tan HL et al.
Cardiovascular Research, 2003
A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine.
Valdivia CR et al.
Cardiovascular Research, 2002
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.
Ackerman MJ et al.
Jama, 2001
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0