Associated Papers
Recognizing Pathogenic PVCs in Children: A Case of Multifocal Ectopic Purkinje-Related Premature Contractions.
McLendon L et al.
Case Reports in Pediatrics, 2026
SCN5A Cardiomyopathy: from Ion Channel Dysfunction To Clinical Disease.
Heymans ABM et al.
Current Cardiology Reports, 2025
Novel SCN5A gene mutation in a patient affected by multifocal ectopic premature Purkinje-related contractions syndrome.
Ventrella N et al.
Esc Heart Failure, 2024
Novel Phenotypic Effects of a Rare SCN5A (c.2482C>T) Mutation.
Schwartzman KH et al.
Jacc. Case Reports, 2024
Multifocal Ectopic Purkinje Premature Contractions due to neutralization of an SCN5A negative charge: structural insights into the gating pore hypothesis.
Glazer AM et al.
Biorxiv : the Preprint Server for Biology, 2024
Higher Sodium Channel Excitability in Cardiac Purkinje Fibers: Implications for Multifocal Ectopic Purkinje-Related Premature Contractions.
Li W et al.
Jacc. Clinical Electrophysiology, 2023
Multifocal ectopic purkinje-related premature contractions and related cardiomyopathy.
Calloe K et al.
Frontiers in Cardiovascular Medicine, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
The G213D variant in Nav1.5 alters sodium current and causes an arrhythmogenic phenotype resulting in a multifocal ectopic Purkinje-related premature contraction phenotype in human-induced pluripotent stem cell-derived cardiomyocytes.
Calloe K 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, 2022
Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated SCN5A Variants: A Systematic Review.
Peters S et al.
Circulation. Genomic and Precision Medicine, 2022
A novel functional variant residing outside the SCN5A-encoded Nav1.5 voltage-sensing domain causes multifocal ectopic Purkinje-related premature contractions.
Gao X et al.
Heartrhythm Case Reports, 2022
A novel gain-of-function mutation in SCN5A responsible for multifocal ectopic Purkinje-related premature contractions.
Doisne N et al.
Human Mutation, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong.
Tse G et al.
Frontiers in Physiology, 2020
Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders
Cerrone M et al.
Circulation, 2019
Cardiac Sodium Channel Dysfunction and Dilated Cardiomyopathy: A Contemporary Reappraisal of Pathophysiological Concepts.
Asatryan B
Journal of Clinical Medicine, 2019
A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy.
Moreau A et al.
Scientific Reports, 2018
Beauty and the beat: A complicated case of multifocal ectopic Purkinje-related premature contractions.
Ter Bekke RMA et al.
Heartrhythm Case Reports, 2018
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Dysfunctional Nav1.5 channels due to SCN5A mutations.
Han D et al.
Experimental Biology and Medicine (maywood, N.j.), 2018
Multifocal atrial and ventricular premature contractions with an increased risk of dilated cardiomyopathy caused by a Nav1.5 gain-of-function mutation (G213D).
Calloe K et al.
International Journal of Cardiology, 2018
Gating Pore Currents in Sodium Channels.
Groome JR et al.
Handbook of Experimental Pharmacology, 2018
A New Cardiac Channelopathy: From Clinical Phenotypes to Molecular Mechanisms Associated With Nav1.5 Gating Pores.
Moreau A et al.
Frontiers in Cardiovascular Medicine, 2018
SCN5A Variants: Association With Cardiac Disorders.
Li W et al.
Frontiers in Physiology, 2018
Novel idiopathic DCM-related SCN5A variants localised in DI-S4 predispose electrical disorders by reducing peak sodium current density.
Shen C et al.
Journal of Medical Genetics, 2017
Sodium channel biophysics, late sodium current and genetic arrhythmic syndromes.
Chadda KR et al.
Pflugers Archiv : European Journal of Physiology, 2017
Ion channelopathies associated genetic variants as the culprit for sudden unexplained death.
Wang S et al.
Forensic Science International, 2017
The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology.
Veerman CC et al.
Gene, 2015
Intracellular calcium attenuates late current conducted by mutant human cardiac sodium channels.
Potet F et al.
Circulation. Arrhythmia and Electrophysiology, 2015
Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels.
Amarouch MY et al.
Frontiers in Physiology, 2015
Mutations in the Voltage Sensors of Domains I and II of Nav1.5 that are Associated with Arrhythmias and Dilated Cardiomyopathy Generate Gating Pore Currents.
Moreau A et al.
Frontiers in Pharmacology, 2015
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
Loussouarn G et al.
Frontiers in Pharmacology, 2015
Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.
Beckermann TM et al.
Heart Rhythm, 2014