Associated Papers
Genetic testing after sudden death with negative ancillary investigations: A French prospective study with multidisciplinary collaboration.
Osouf J et al.
Forensic Science International. Genetics, 2026
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
The Cardiac Sodium Channel and Its Protein Partners.
Balse E et al.
Handbook of Experimental Pharmacology, 2018
Molecular Pathophysiology of Congenital Long QT Syndrome.
Bohnen MS et al.
Physiological Reviews, 2017
Genetic variations involved in sudden cardiac death and their associations and interactions.
Wei D et al.
Heart Failure Reviews, 2016
α1-Syntrophin Variant Identified in Drug-Induced Long QT Syndrome Increases Late Sodium Current.
Choi JI et al.
Plos One, 2016
Diseases caused by mutations in Nav1.5 interacting proteins.
Kyle JW et al.
Cardiac Electrophysiology Clinics, 2014
Defective interactions of protein partner with ion channels and transporters as alternative mechanisms of membrane channelopathies.
Kline CF et al.
Biochimica Et Biophysica Acta, 2014
Dystrophin complex functions as a scaffold for signalling proteins.
Constantin B
Biochimica Et Biophysica Acta, 2014
Post-translational modifications of the cardiac Na channel: contribution of CaMKII-dependent phosphorylation to acquired arrhythmias.
Herren AW et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2013
Channelopathies from mutations in the cardiac sodium channel protein complex.
Adsit GS et al.
Journal of Molecular and Cellular Cardiology, 2013
Syntrophin proteins as Santa Claus: role(s) in cell signal transduction.
Bhat HF et al.
Cellular and Molecular Life Sciences : Cmls, 2013
Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.
Hu RM et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2013
Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.
Na I 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
Biology of cardiac sodium channel Nav1.5 expression.
Rook MB et al.
Cardiovascular Research, 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
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.
Wilde AA et al.
Circulation Research, 2011
Defining a new paradigm for human arrhythmia syndromes: phenotypic manifestations of gene mutations in ion channel- and transporter-associated proteins.
Ackerman MJ et al.
Circulation Research, 2010
Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology.
Abriel H
Journal of Molecular and Cellular Cardiology, 2010
Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.
Cheng J et al.
Circulation. Arrhythmia and Electrophysiology, 2009
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009
Therapeutic strategies for long-QT syndrome: does the molecular substrate matter?
Ruan Y et al.
Circulation. Arrhythmia and Electrophysiology, 2008
Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.
Ueda K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008