Associated Papers
Clinical and electrophysiological characterization of a SCN5A gain-of-function mutation associated with CPVT-like arrhythmia.
Dahlberg P et al.
Journal of Molecular and Cellular Cardiology, 2025
Advances in the genetic etiology of female infertility.
Gu R et al.
Journal of Assisted Reproduction and Genetics, 2024
HiPSC-derived cardiomyocyte to model Brugada syndrome: both asymptomatic and symptomatic mutation carriers reveal increased arrhythmogenicity.
Penttinen K et al.
Bmc Cardiovascular Disorders, 2023
Structural basis for severe pain caused by mutations in the S4-S5 linkers of voltage-gated sodium channel NaV1.7.
Wisedchaisri G et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Multifocal ectopic purkinje-related premature contractions and related cardiomyopathy.
Calloe K et al.
Frontiers in Cardiovascular Medicine, 2023
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Walsh R et al.
European Heart Journal, 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
Advances in the Molecular Genetics of Catecholaminergic Polymorphic Ventricular Tachycardia.
Song J et al.
Frontiers in Pharmacology, 2021
Cardiac Sodium Channel Dysfunction and Dilated Cardiomyopathy: A Contemporary Reappraisal of Pathophysiological Concepts.
Asatryan B
Journal of Clinical Medicine, 2019
Role of the Purkinje system in heritable arrhythmias.
Wilde AAM et al.
Heart Rhythm, 2019
A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy.
Moreau A et al.
Scientific 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
Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy.
Wilde AAM et al.
Jacc. Clinical Electrophysiology, 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
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
Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation.
Lieve KV et al.
International Journal of Cardiology, 2017
Sodium channel biophysics, late sodium current and genetic arrhythmic syndromes.
Chadda KR et al.
Pflugers Archiv : European Journal of Physiology, 2017
Antiarrhythmic Action of Flecainide in Polymorphic Ventricular Arrhythmias Caused by a Gain-of-Function Mutation in the Nav 1.5 Sodium Channel.
Amarouch MY et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2016
In Silico Evaluation of the Potential Antiarrhythmic Effect of Epigallocatechin-3-Gallate on Cardiac Channelopathies.
Boukhabza M et al.
Computational and Mathematical Methods in Medicine, 2016
The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology.
Veerman CC et al.
Gene, 2015
Complex genetic background in a large family with Brugada syndrome.
Saber S et al.
Physiological Reports, 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
Gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias.
Swan H et al.
Circulation. Cardiovascular Genetics, 2014
Functional interaction between S1 and S4 segments in voltage-gated sodium channels revealed by human channelopathies.
Amarouch MY et al.
Channels (austin, Tex.), 2014