Associated Papers
Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants.
Martínez-Barrios E et al.
International Journal of Molecular Sciences, 2026
2 Cases of New Electrocardiographic Patterns in Patients With Long QT Syndrome.
Makarov LM et al.
Jacc. Case Reports, 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
Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory.
Stava TT et al.
Clinical Genetics, 2024
Defining Cardiomyocyte Repolarization Response to Pharmacotherapy in Long-QT Syndrome Type 3.
Ge N et al.
Journal of the American Heart Association, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome.
Zhao Z et al.
Ebiomedicine, 2024
Type 3 long QT syndrome: Is the effectiveness of treatment with beta-blockers population-specific?
Hermida A et al.
Heart Rhythm, 2024
Using Ribonucleoprotein-based CRISPR/Cas9 to Edit Single Nucleotide on Human Induced Pluripotent Stem Cells to Model Type 3 Long QT Syndrome (SCN5A±).
Ge N et al.
Stem Cell Reviews and Reports, 2023
The role of genetic testing in the prevention, diagnosis, and prognosis of sudden cardiac arrest in children.
Blich M et al.
Journal of Arrhythmia, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Genetic screening of relatives of decedents experiencing sudden unexpected death: medical examiner's office referrals to a multi-disciplinary cardiogenetics program.
Siskind T et al.
Journal of Community Genetics, 2022
Effects of Mexiletine on a Race-specific Mutation in Nav1.5 Associated With Long QT Syndrome.
Wu X et al.
Frontiers in Physiology, 2022
Peripartum management of patient with long QT3 after successful implantable cardioverter defibrillator device discharge resulting in device failure: a case report.
Lee MJ et al.
European Heart Journal. Case Reports, 2021
Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric Myocarditis.
Kontorovich AR et al.
Circulation. Genomic and Precision Medicine, 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
Subcutaneous and transvenous implantable cardioverter defibrillator in high-risk long-QT syndrome type 3 associated with Val411Met mutation in SCN5A.
Yokoyama Y et al.
Journal of Cardiology Cases, 2020
Reclassification of genetic variants in children with long QT syndrome.
Westphal DS et al.
Molecular Genetics & Genomic Medicine, 2020
High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8.
Fukuyama M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2020
Using postmortem formalin fixed paraffin-embedded tissues for molecular testing of sudden cardiac death: A cautionary tale of utility and limitations.
Lin Y et al.
Forensic Science International, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Ranolazine as an Alternative Therapy to Flecainide for SCN5A V411M Long QT Syndrome Type 3 Patients.
Cano J et al.
Frontiers in Pharmacology, 2020
Specific Therapy Based on the Genotype in a Malignant Form of Long QT3, Carrying the V411M Mutation.
Blich M et al.
International Heart Journal, 2019
Predicting Patient Response to the Antiarrhythmic Mexiletine Based on Genetic Variation.
Zhu W et al.
Circulation Research, 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
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups.
Baruteau AE et al.
European Heart Journal, 2018
Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.
Son MJ et al.
Journal of Korean Medical Science, 2018
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Huang W et al.
Protein & Cell, 2017
Sodium channel biophysics, late sodium current and genetic arrhythmic syndromes.
Chadda KR et al.
Pflugers Archiv : European Journal of Physiology, 2017
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 2017
A case of long QT syndrome: challenges on a bumpy road.
Magnusson P et al.
Clinical Case Reports, 2017
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
Nunn LM 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, 2016
Gene-Specific Therapy With Mexiletine Reduces Arrhythmic Events in Patients With Long QT Syndrome Type 3.
Mazzanti A et al.
Journal of the American College of Cardiology, 2016
Pronounced Shortening of QT Interval With Mexiletine Infusion Test in Patients With Type 3 Congenital Long QT Syndrome.
Funasako M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2016
[High incidence of sudden cardiac death in one family with type-3 long QT syndrome: molecular genetics and electrophysiology mechanism analysis].
Zhou H et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2015
The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.
Milanesi R et al.
Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing, 2015
Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.
Kapplinger JD et al.
Circulation. Cardiovascular Genetics, 2015
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU et al.
Bmc Medical Genetics, 2015