Associated Papers
The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.
Boulmpou A et al.
Journal of Personalized Medicine, 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
Interpreting the actionable clinical role of rare variants associated with short QT syndrome.
Martínez-Barrios E et al.
Human Genetics, 2024
Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2, and SCN5A Compared With Patch-Clamp Functional Characterization.
Ye D et al.
Circulation. Genomic and Precision Medicine, 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
Primary Electrical Heart Disease-Principles of Pathophysiology and Genetics.
Badura K et al.
International Journal of Molecular Sciences, 2024
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.
Cissé L et al.
Frontiers in Neurology, 2024
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
Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.
Lian H et al.
Journal of Translational Medicine, 2023
Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.
Hancox JC et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
The Arrhythmogenic Face of COVID-19: Brugada ECG Pattern in SARS-CoV-2 Infection.
Zimmermann P et al.
Journal of Cardiovascular Development and Disease, 2022
Preclinical short QT syndrome models: studying the phenotype and drug-screening.
Fan X 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
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
The role of sodium channels in sudden unexpected death in pediatrics.
Rochtus AM et al.
Molecular Genetics & Genomic Medicine, 2020
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Campuzano O et al.
Journal of Clinical Medicine, 2019
Multiple mechanisms underlie increased cardiac late sodium current.
Kroncke BM et al.
Heart Rhythm, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 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
Emerging therapeutic targets in the short QT syndrome.
Hancox JC et al.
Expert Opinion on Therapeutic Targets, 2018
SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance.
Kroncke BM et al.
Circulation. Genomic and Precision Medicine, 2018
Recent Advances in Short QT Syndrome.
Campuzano O et al.
Frontiers in Cardiovascular Medicine, 2018
Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.
Ioakeimidis NS et al.
Journal of Biological Research (thessalonike, Greece), 2017
Ethnic Differences in Genetic Ion Channelopathies Associated with Sudden Cardiac Death: A Systematic Review and Meta-Analysis.
Kong T et al.
Annals of Clinical and Laboratory Science, 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.
Yamagata K et al.
Circulation, 2017
Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory.
Chae H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders.
Celestino-Soper PB et al.
Frontiers in Cardiovascular Medicine, 2017
Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.
Andreasen C et al.
The Canadian Journal of Cardiology, 2013
Characterization of 2 genetic variants of Na(v) 1.5-arginine 689 found in patients with cardiac arrhythmias.
Sottas V et al.
Journal of Cardiovascular Electrophysiology, 2013
Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation.
Hong K et al.
European Journal of Human Genetics : Ejhg, 2012
High prevalence of genetic variants previously associated with LQT syndrome in new exome data.
Refsgaard L et al.
European Journal of Human Genetics : Ejhg, 2012
Cardiac ion channelopathies and the sudden infant death syndrome.
Wilders R
Isrn Cardiology, 2012
Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.
Nakajima T et al.
International Heart Journal, 2011
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010
A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y.
Plant LD et al.
The Journal of Clinical Investigation, 2006
Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia.
Maekawa K et al.
Annals of Human Genetics, 2005
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0
Congenital short QT syndrome: A review focused on electrocardiographic features.
Pérez-Riera AR et al.
Journal of Electrocardiology, 0