Associated Papers
SCN5A R814W-Associated Multifocal Ventricular Ectopy and Dilated Cardiomyopathy: A Treatable Channelopathy.
Bernardo MC et al.
Journal of Cardiovascular Electrophysiology, 2026
SCN5A Cardiomyopathy: from Ion Channel Dysfunction To Clinical Disease.
Heymans ABM et al.
Current Cardiology Reports, 2025
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Verdonschot JAJ et al.
Circulation. Genomic and Precision Medicine, 2024
38516780 (PubMed )
Supplement: hcg-17-e004416-s001.pdf
Effect of Flecainide on Multifocal Ectopic Purkinje-Related Premature Contractions in an R814W SCN5A Carrier.
Ahamed H et al.
Jacc. Case Reports, 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
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 combination of quinidine/mexiletine reduces arrhythmia in dilated cardiomyopathy in two patients with R814W SCN5A mutation.
Zakrzewska-Koperska J et al.
Esc Heart Failure, 2020
A novel gain-of-function mutation in SCN5A responsible for multifocal ectopic Purkinje-related premature contractions.
Doisne N et al.
Human Mutation, 2020
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
30143662 (PubMed )
Supplement: 41598_2018_30577_MOESM1_ESM.pdf
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