Associated Papers
The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.
Boulmpou A et al.
Journal of Personalized Medicine, 2025
Interpreting the actionable clinical role of rare variants associated with short QT syndrome.
Martínez-Barrios E et al.
Human Genetics, 2024
Actionable Variants of Unknown Significance in Inherited Arrhythmogenic Syndromes: A Further Step Forward in Genetic Diagnosis.
Martínez-Barrios E et al.
Biomedicines, 2024
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.
Sveinbjornsson G et al.
Journal of the American Heart Association, 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
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
Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Song Y et al.
Frontiers in Cardiovascular Medicine, 2022
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Campuzano O et al.
Journal of Clinical Medicine, 2019
Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome.
Butler A et al.
Heliyon, 2019
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.
Hosseini SM et al.
Circulation, 2018
Recent Advances in Short QT Syndrome.
Campuzano O et al.
Frontiers in Cardiovascular Medicine, 2018
A Heterozygous Missense hERG Mutation Associated with Early Repolarization Syndrome.
Cheng YJ et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018
Deep sequencing of atrial fibrillation patients with mitral valve regurgitation shows no evidence of mosaicism but reveals novel rare germline variants.
Gregers E et al.
Heart Rhythm, 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
Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.
Wu Y et al.
Forensic Sciences Research, 2017
Cardiac Delayed Rectifier Potassium Channels in Health and Disease.
Chen L et al.
Cardiac Electrophysiology Clinics, 2016
Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.
Harrell DT et al.
International Journal of Cardiology, 2015
Gain-of-function KCNH2 mutations in patients with Brugada syndrome.
Wang QI et al.
Journal of Cardiovascular Electrophysiology, 2014
Arrhythmogenesis in Brugada syndrome: impact and constrains of current concepts.
Bébarová M
International Journal of Cardiology, 2013
Genetics of cardiac electrical disease.
Perrin MJ et al.
The Canadian Journal of Cardiology, 2013
The genetic component of Brugada syndrome.
Nielsen MW et al.
Frontiers in Physiology, 2013
The genetics of cardiac disease associated with sudden cardiac death: a paper from the 2011 William Beaumont Hospital Symposium on molecular pathology.
Perrin MJ et al.
The Journal of Molecular Diagnostics : Jmd, 2012
hERG K(+) channels: structure, function, and clinical significance.
Vandenberg JI et al.
Physiological Reviews, 2012
Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.
Giudicessi JR et al.
Nature Reviews. Cardiology, 2012
Genetics of sudden cardiac death.
Barsheshet A et al.
Current Cardiology Reports, 2011
Proposed diagnostic criteria for short QT syndrome are badly founded.
Bjerregaard P
Journal of the American College of Cardiology, 2011
The short QT syndrome: proposed diagnostic criteria.
Gollob MH et al.
Journal of the American College of Cardiology, 2011
Role of the R1135H KCNH2 mutation in Brugada syndrome.
Wilders R et al.
International Journal of Cardiology, 2010
Short QT syndrome: from bench to bedside.
Patel C et al.
Circulation. Arrhythmia and Electrophysiology, 2010
A novel KCNH2 mutation as a modifier for short QT interval.
Itoh H et al.
International Journal of Cardiology, 2009
Short QT interval in clinical practice.
Bjerregaard P et al.
Journal of Electrocardiology, 0
Congenital short QT syndrome: A review focused on electrocardiographic features.
Pérez-Riera AR et al.
Journal of Electrocardiology, 0