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
Trio Whole Exome Sequencing in Chinese Childhood-Onset Lupus Reveals Novel Candidate Genes.
Ma J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
SCN5A Cardiomyopathy: from Ion Channel Dysfunction To Clinical Disease.
Heymans ABM et al.
Current Cardiology Reports, 2025
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.
Surget E et al.
Heart Rhythm O2, 2025
A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand.
Walsh R et al.
Circulation, 2025
The many faces of SCN5A pathogenic variants: from channelopathy to cardiomyopathy.
Vouloagkas I et al.
Heart Failure Reviews, 2025
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Risk Assessment and Personalized Treatment Options in Inherited Dilated Cardiomyopathies: A Narrative Review.
Arnautu DA et al.
Biomedicines, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families.
Gallego-Delgado M et al.
International Journal of Molecular Sciences, 2024
SCN5A-L256del and L1621F exhibit loss-of-function properties related to autosomal recessive congenital cardiac disorders presenting as sick sinus syndrome, dilated cardiomyopathy, and sudden cardiac death.
Shi J et al.
Gene, 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
Mapping Structural Distribution and Gating-Property Impacts of Disease-Associated Missense Mutations in Voltage-Gated Sodium Channels.
Ahangar AA et al.
Biorxiv : the Preprint Server for Biology, 2023
Fifty years of gating currents and channel gating.
Catacuzzeno L et al.
The Journal of General Physiology, 2023
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA et al.
Cold Spring Harbor Molecular Case Studies, 2023
Maturation of hiPSC-derived cardiomyocytes promotes adult alternative splicing of SCN5A and reveals changes in sodium current associated with cardiac arrhythmia.
Campostrini G et al.
Cardiovascular Research, 2023
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Multifocal ectopic purkinje-related premature contractions and related cardiomyopathy.
Calloe K et al.
Frontiers in Cardiovascular Medicine, 2023
Comprehensive review on gene mutations contributing to dilated cardiomyopathy.
Wang S 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
Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review.
Oliva A et al.
Journal of Clinical Medicine, 2022
Rare Genetic Variants Associated With Myocardial Fibrosis: Multi-Ethnic Study of Atherosclerosis.
Shabani M et al.
Frontiers in Cardiovascular Medicine, 2022
Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation.
Rico Y et al.
Genes, 2021
Brugada Syndrome: New Insights From Cardiac Magnetic Resonance and Electroanatomical Imaging.
Pappone C et al.
Circulation. Arrhythmia and Electrophysiology, 2021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.
Nicole S et al.
Frontiers in Pharmacology, 2021
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Identification of Undetected Monogenic Cardiovascular Disorders.
Abdulrahim JW et al.
Journal of the American College of Cardiology, 2020
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.
Edwards JJ et al.
Jacc. Basic to Translational Science, 2020
SCN5A variant R222Q generated abnormal changes in cardiac sodium current and action potentials in murine myocytes and Purkinje cells.
Daniel LL et al.
Heart Rhythm, 2019
Clinical characterisation of a novel SCN5A variant associated with progressive malignant arrhythmia and dilated cardiomyopathy.
Kean AC et al.
Cardiology in the Young, 2019
Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders
Cerrone M et al.
Circulation, 2019
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019