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
Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants.
Martínez-Barrios E et al.
International Journal of Molecular Sciences, 2026
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Recognizing Pathogenic PVCs in Children: A Case of Multifocal Ectopic Purkinje-Related Premature Contractions.
McLendon L et al.
Case Reports in Pediatrics, 2026
The role of iPSC research for insight into inherited arrhythmia conditions.
Josvai MB et al.
Heart Rhythm, 2025
SCN5A Cardiomyopathy: from Ion Channel Dysfunction To Clinical Disease.
Heymans ABM et al.
Current Cardiology Reports, 2025
Genetic architecture of dilated cardiomyopathy in Poland: variant distribution, clinical characteristics, and prognosis.
Chmielewski P et al.
Polish Archives of Internal Medicine, 2025
Dilated cardiomyopathy evaluation with Imagenomics: combining multimodal cardiovascular imaging and genetics.
Galanti K et al.
Esc Heart Failure, 2025
Precision medicine applications in dilated cardiomyopathy: Advancing personalized care.
Khattab E et al.
Current Problems in Cardiology, 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
Voltage Sensor Conformations Induced by LQTS-associated Mutations in hERG Potassium Channels.
Chan AN et al.
Biorxiv : the Preprint Server for Biology, 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
SCN5A missense variants and their contribution to deaths in Sudden Unexplained Nocturnal Death Syndrome (SUNDS).
Chaloemthanetphong A et al.
Forensic Science International. Genetics, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Charge Reversal of the Uppermost Arginine in Sliding Helix S4-I Affects Gating of Cardiac Sodium Channel.
Kulichik OE et al.
International Journal of Molecular Sciences, 2025
Cardiomyopathy: pathogenesis and therapeutic interventions.
Huang S et al.
Medcomm, 2024
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 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
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 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
Association Between Clonal Hematopoiesis and Left Ventricular Reverse Remodeling in Nonischemic Dilated Cardiomyopathy.
Inoue S et al.
Jacc. Basic to Translational Science, 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
Effect of Flecainide on Multifocal Ectopic Purkinje-Related Premature Contractions in an R814W SCN5A Carrier.
Ahamed H et al.
Jacc. Case Reports, 2024
A Case of Multifocal Ectopic Purkinje-related Premature Contractions…While Pregnant.
Oates C et al.
The Journal of Innovations in Cardiac Rhythm Management, 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
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R et al.
Genetics in Medicine Open, 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
Challenges in Brugada Syndrome Stratification: Investigating SCN5A Mutation Localization and Clinical Phenotypes.
Tarantino A et al.
International Journal of Molecular Sciences, 2023
Maturation of iPSC-derived cardiomyocytes in a heart-on-a-chip device enables modeling of dilated cardiomyopathy caused by R222Q-SCN5A mutation.
Wauchop M et al.
Biomaterials, 2023
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
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
Innate Immune Signaling in Hearts and Buccal Mucosa Cells of Patients with Arrhythmogenic Cardiomyopathy.
Bueto-Beni C et al.
Biorxiv : the Preprint Server for Biology, 2023
Cardiovascular Magnetic Resonance Imaging in Familial Dilated Cardiomyopathy.
Lau C et al.
Medicina (kaunas, Lithuania), 2023
Non-ischaemic dilated cardiomyopathy: recognising the genetic links.
Paul C et al.
Internal Medicine Journal, 2023