Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.A204E
Back to variants list

SCN5A

NM_000335.5:p.A204E

Associated Papers

SCN5A R814W-Associated Multifocal Ventricular Ectopy and Dilated Cardiomyopathy: A Treatable Channelopathy.

Bernardo MC et al.

Journal of Cardiovascular Electrophysiology, 2026

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

Effect of Flecainide on Multifocal Ectopic Purkinje-Related Premature Contractions in an R814W SCN5A Carrier.

Ahamed H 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

Combination of low-dose quinidine and verapamil for multifocal ectopic Purkinje-related premature contractions in a patient with SCN5A mutation.

Enokizono K et al.

Heartrhythm Case Reports, 2023

Multifocal ectopic purkinje-related premature contractions and related cardiomyopathy.

Calloe K et al.

Frontiers in Cardiovascular Medicine, 2023

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

Case Report: Family Curse: An SCN5A Mutation, c.611C>A, p.A204E Associated With a Family History of Dilated Cardiomyopathy and Arrhythmia.

Huang W et al.

Frontiers in Cardiovascular Medicine, 2022

Corrigendum: Case Report: Family Curse: An SCN5A Mutation, c.611C>A, p.A204E Associated With a Family History of Dilated Cardiomyopathy and Arrhythmia.

Huang W et al.

Frontiers in Cardiovascular Medicine, 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

Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.

Tobita T et al.

Scientific Reports, 2018

29386531 (PubMed )
Supplement: 41598_2018_20114_MOESM1_ESM.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."