ReviewThe Journal of physiology2013
Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects.
Review in The Journal of physiology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 105 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
105 citing papers in PubMed, 1 synthesis or guideline pooled it, 182 citations in OpenAlex.
- Meta-Analysis of Risk Stratification of SCN5A With Brugada Syndrome: Is SCN5A Always a Marker of Low Risk?Frontiers in physiology · 2019Pooled it
- Differential expression of genes participating in cardiomyocyte electrophysiological remodeling via membrane ionic mechanisms and CaMolecular and cellular biochemistry · 2020Trial
- A bifunctional actuator to correct loss-of-function deficits in cardiac voltage-gated sodium channels.Science advances · 2026Article
- Article
- The Effect of Ketamine, Xylazine, and Ketamine/Xylazine Administration on SCN5A (Nav1.5) Gene Expression in Pigeons.Veterinary medicine and science · 2026Article
- SAM68 is a multifunctional post-transcriptional regulator of cardiomyocyte differentiation.Nucleic acids research · 2026Article
- Article
- Discovery of a novel NaActa pharmacologica Sinica · 2026Article
- Functional Characterization of the SCN5A p.D372H Variant Associated with Brugada Syndrome.Biomedicines · 2026Article
- Genetic loci responsible for atrioventricular block in children.Frontiers in cell and developmental biology · 2026Review
- Potential Antiarrhythmic Mechanisms of Glucagon-Like Peptide-1 Receptor Agonists (GLP-1RAs).Drug design, development and therapy · 2026Review
- Multiscale computational analysis reveals enhanced allosteric modulation of Nav1.5 by dual binding of dapagliflozin and ertugliflozin.Scientific reports · 2025Article
- Mutation-specific roles of sustained sodium current (IPNAS nexus · 2025Article
- Unsupervised feature extraction using deep learning empowers discovery of genetic determinants of the electrocardiogram.Genome medicine · 2025Article
- SCN5A Cardiomyopathy: from Ion Channel Dysfunction To Clinical Disease.Current cardiology reports · 2025Review
- Consequences of Right Heart Disease for Cardiac Electrophysiology and Arrhythmias: Cellular and Structural Mechanisms.CJC open · 2025Review
- Identification of Monogenic Causes of Arterial Ischemic Stroke in Children with Arteriopathies by Next-Generation Sequencing.International journal of molecular sciences · 2025Article
- Long QT Interval Syndrome and Female Sex-Review and Case Report.Reports (MDPI) · 2025Article
- Charge Reversal of the Uppermost Arginine in Sliding Helix S4-I Affects Gating of Cardiac Sodium Channel.International journal of molecular sciences · 2025Article
- Genotype-phenotype insights of pediatric dilated cardiomyopathy.Frontiers in pediatrics · 2025Review
45 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Over the last two decades, an increasing number of SCN5A mutations have been described in patients with long QT syndrome type 3 (LQT3), Brugada syndrome, (progressive) conduction disease, sick sinus syndrome, atrial standstill, atrial fibrillation, dilated cardiomyopathy, and sudden infant death syndrome (SIDS). Combined genetic, electrophysiological and molecular studies have provided insight into the dysfunction and dysregulation of the cardiac sodium channel in the setting of SCN5A mutations identified in patients with these inherited arrhythmia syndromes. However, risk stratification and patient management is hindered by the reduced penetrance and variable disease expressivity in sodium channelopathies. Furthermore, various SCN5A-related arrhythmia syndromes are known to display mixed phenotypes known as cardiac sodium channel overlap syndromes. Determinants of variable disease expressivity, including genetic background and environmental factors, are suspected but still largely unknown. Moreover, it has become increasingly clear that sodium channel function and regulation is more complicated than previously assumed, and the sodium channel may play additional, as of yet unrecognized, roles in cardiac structure and function. Development of cardiac structural abnormalities secondary to SCN5A mutations has been reported, but the clinical relevance and underlying mechanisms are unclear. Increased insight into these issues would enable a major next step in research related to cardiac sodium channel disease, ultimately enabling improved diagnosis, risk stratification and treatment strategies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.