Associated Papers
Think SCN5A: A Novel Variant Causing Multifocal Purkinje PVCs and Dilated Cardiomyopathy.
Hanna D et al.
Indian Pacing and Electrophysiology Journal, 2026
India-specific cardiogenetic aspects: focus on Cardiomyopathies and Inherited Arrhythmia Syndromes.
Chockalingam P et al.
Indian Pacing and Electrophysiology Journal, 2026
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
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
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Genetic architecture of dilated cardiomyopathy in Poland: variant distribution, clinical characteristics, and prognosis.
Chmielewski P et al.
Polish Archives of Internal Medicine, 2025
How narrow is narrow QRS in premature ventricular contractions? A novel variant of SCN5A-associated MEPPC.
Turan OE et al.
Heartrhythm Case Reports, 2025
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
The differential impacts of equivalent gating-charge mutations in voltage-gated sodium channels.
Elhanafy E et al.
The Journal of General Physiology, 2025
Systematic analysis of SCN5A variants associated with inherited cardiac diseases.
Hermida A et al.
Heart Rhythm, 2025
Searching for a Solution: A Case Report on Multifocal Ectopic Purkinje-Related Premature Contractions Syndrome.
Keževičiūtė M et al.
Medicina (kaunas, Lithuania), 2025
Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.
Kubanek M et al.
Esc Heart Failure, 2024
Generation of two iPSC lines from dilated cardiomyopathy patients with pathogenic variants in the SCN5A gene.
Dexheimer R et al.
Stem Cell Research, 2024
ELUCIDATING THE DIFFERENTIAL IMPACTS OF EQUIVALENT GATING-CHARGE MUTATIONS IN VOLTAGE-GATED SODIUM CHANNELS.
Elhanafy E et al.
Biorxiv : the Preprint Server for Biology, 2024
Novel SCN5A gene mutation in a patient affected by multifocal ectopic premature Purkinje-related contractions syndrome.
Ventrella N et al.
Esc Heart Failure, 2024
Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack.
Li W et al.
Stroke and Vascular Neurology, 2024
Genetic background determines the severity of age-dependent cardiac structural abnormalities and arrhythmia susceptibility in Scn5a-1798insD mice.
Marchal GA 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, 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
In Vivo Base Editing of Scn5a Rescues Type 3 Long QT Syndrome in Mice.
Qi M et al.
Circulation, 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
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Fifty years of gating currents and channel gating.
Catacuzzeno L et al.
The Journal of General Physiology, 2023
Multifocal ectopic premature Purkinje-related complexes syndrome in children.
Young ML et al.
Heartrhythm Case Reports, 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
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
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
An Unusual Incessant Narrow-Wide Complex Polymorphic Tachycardia: Electrophysiological Phenotype Due to an Allelic Variant.
Chen H et al.
Jacc. Clinical Electrophysiology, 2022
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
Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation.
Rico Y et al.
Genes, 2021
Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.
Puckelwartz MJ et al.
Journal of the American Heart Association, 2021
Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.
Striessnig J
Frontiers in Synaptic Neuroscience, 2021
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
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
Clinical and Genetic Findings in Children Presenting With Ventricular Fibrillation as the First Manifestation of Cardiovascular Disease.
Hylind RJ et al.
Journal of the American Heart Association, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 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
Cardiac Sodium Channel Dysfunction and Dilated Cardiomyopathy: A Contemporary Reappraisal of Pathophysiological Concepts.
Asatryan B
Journal of Clinical Medicine, 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
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
Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report.
Zakrzewska-Koperska J et al.
Bmc Medical Genetics, 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
Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.
Tobita T et al.
Scientific Reports, 2018