Associated Papers
Common Genetic Variants of The Cardiac Sodium Channel Alter Patient Response to Class 1b Antiarrhythmics.
Marras M et al.
Biorxiv : the Preprint Server for Biology, 2026
Brugada Syndrome: an exemplar for the genomic basis of sudden death.
Griffiths RLM et al.
European Journal of Human Genetics : Ejhg, 2025
Catheter Ablation of Triggers and Arrhythmogenic Epicardial Substrates in Patients with QT Prolongation.
Yuniadi Y et al.
Archives of Medical Research, 2025
Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?
van Deventer BS et al.
Forensic Science, Medicine, and Pathology, 2025
Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.
Surget E et al.
Heart Rhythm O2, 2025
Functional reassessment of Nav1.5 T559A reveals loss-of-function in a variant commonly used as wild type.
Melgari D et al.
American Journal of Physiology. Cell Physiology, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Clinical Features of Brugada Syndrome Patients With SCN5A Variants.
Okamura S et al.
Journal of Cardiovascular Electrophysiology, 2025
Ion channel mutations and cancer.
Cao X et al.
Biochemistry and Biophysics Reports, 2025
Voltage-Gated Sodium Channels: A Therapeutic Target in Ischemic Heart Disease.
Zhang XL et al.
Reviews in Cardiovascular Medicine, 2025
Prevalence and relevance of H558R in the efficacy and toxicity of flecainide in patients with atrial fibrillation: a cohort study.
Trincado Ave M et al.
Heart (british Cardiac Society), 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
A Tale of Two Conditions: Pediatric Brugada Syndrome Unveiled-Navigating the Challenges of Coexisting Arrhythmia and Fever-Induced ECG Pattern.
Leung HT et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2025
Epicardial Ablation for Arrhythmogenic Disorders in Patients with Brugada Syndrome.
Matteucci A et al.
Biomedicines, 2024
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
Generation of two induced pluripotent stem cell (iPSC) lines carrying the Brugada Syndrome-associated mutation SCN5A-R282H.
Popović NZ et al.
Stem Cell Research, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Loss of sodium current caused by a Brugada syndrome-associated variant is determined by patient-specific genetic background.
Martínez-Moreno R et al.
Heart Rhythm, 2024
Cellular-level analyses of SCN5A mutations in left ventricular noncompaction cardiomyopathy suggest electrophysiological mechanisms for ventricular tachycardia.
Li Y et al.
Biochemistry and Biophysics Reports, 2024
Severe hypothyroidism as a trigger for Brugada-type ECG abnormalities: a case report and literature review.
Bioletto F et al.
Archives of Endocrinology and Metabolism, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Polymorphic Variants of SCN5A Gene (rs41312433 and rs1805124) Associated with Coronary Artery Affliction in Patients with Severe Arrhythmias.
Vašků A et al.
Genes, 2024
Identification of a novel Scn3b mutation in a Chinese Brugada syndrome pedigree: implications for Nav1.5 electrophysiological properties and intracellular distribution of Nav1.5 and Navβ3.
Fan J et al.
Frontiers in Cardiovascular Medicine, 2024
The dispensability of 14-3-3 proteins for the regulation of human cardiac sodium channel Nav1.5.
Iamshanova O et al.
Plos One, 2024
Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study.
Popa-Fotea NM et al.
International Journal of Molecular Sciences, 2023
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern.
Tonelli L et al.
Journal of Cardiovascular Medicine (hagerstown, Md.), 2023
Genetic Atrial Cardiomyopathies: Common Features, Specific Differences, and Broader Relevance to Understanding Atrial Cardiomyopathy.
Marcoux E et al.
Circulation. Arrhythmia and Electrophysiology, 2023
Challenges in Brugada Syndrome Stratification: Investigating SCN5A Mutation Localization and Clinical Phenotypes.
Tarantino A et al.
International Journal of Molecular Sciences, 2023
Prokaryotic voltage-gated sodium channels are more effective than endogenous Nav1.5 channels in rescuing cardiac action potential conduction: an in silico study.
Needs D et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2023
Noncoding RNAs and Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes in Cardiac Arrhythmic Brugada Syndrome.
Theisen B et al.
Cells, 2023
Brugada Syndrome: More than a Monogenic Channelopathy.
Liantonio A et al.
Biomedicines, 2023
A diverse ancestrally-matched reference panel increases genotype imputation accuracy in a underrepresented population.
Mauleekoonphairoj J et al.
Scientific Reports, 2023
Functional identification of hot-spot mutations in cardiac calcium channel genes associated with the J wave syndromes.
Zeng B et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023
Circumstance-dependent functional variants in the major long QT syndrome genes in patients with recurrent polymorphic ventricular arrhythmias: A case series.
van Bakel BMA et al.
Heartrhythm Case Reports, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
SCN5A Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse.
Jaouadi H et al.
International Journal of Molecular Sciences, 2022
The Genetics of Brugada Syndrome.
Cerrone M et al.
Annual Review of Genomics and Human Genetics, 2022
The Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical Management.
Bezzeccheri A et al.
Reviews in Cardiovascular Medicine, 2022
Trafficking and Gating Cooperation Between Deficient Nav1.5-mutant Channels to Rescue INa.
Clatot J et al.
Frontiers in Bioscience (landmark Edition), 2022
Brugada syndrome: update and future perspectives.
Marsman EMJ et al.
Heart (british Cardiac Society), 2022
Takotsubo cardiomyopathy and Brugada syndrome in a patient with a novel loss-of-function variant in the cardiac sodium channel Nav1.5.
Frederiksen TC et al.
Heartrhythm Case Reports, 2022
Developmental changes in cardiac expression of KCNQ1 and SCN5A spliceoforms: Implications for sudden unexpected infant death.
Williams AF et al.
Heart Rhythm, 2022
Phenotypes of mutations related to voltage-dependent sodium channels on children and adolescents.
Ferreira AC et al.
Journal of Biochemical and Molecular Toxicology, 2022
Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation.
Malakootian M et al.
Bmc Cardiovascular Disorders, 2022
Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.
Daimi H et al.
International Journal of Molecular Sciences, 2022
Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.
Martínez-Barrios E et al.
Biomedicines, 2022
Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
Khan RS et al.
Journal of the American Heart Association, 2022