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
Novel heterozygous mutation of CACNA2D1 gene in a Chinese family with arrhythmia.
Wang Q et al.
Bmc Cardiovascular Disorders, 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
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
Pathophysiological Roles of Auxiliary Calcium Channel α2δ Subunits.
Hessenberger M et al.
Handbook of Experimental Pharmacology, 2023
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Walsh R et al.
European Heart Journal, 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
Putative role of Brugada syndrome genes in familial atrial fibrillation.
Maltese PE et al.
European Review for Medical and Pharmacological Sciences, 2019
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Campuzano O et al.
Journal of Clinical Medicine, 2019
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Multiple clinical profiles of families with the short QT syndrome.
Akdis D 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, 2018
Emerging therapeutic targets in the short QT syndrome.
Hancox JC et al.
Expert Opinion on Therapeutic Targets, 2018
Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia.
Zhang Q et al.
Channels (austin, Tex.), 2018
Alterations in the α2 δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.
Santolini I et al.
Epilepsia, 2017
The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome.
Hu D et al.
Jacc. Clinical Electrophysiology, 2017
Ion channelopathies associated genetic variants as the culprit for sudden unexplained death.
Wang S et al.
Forensic Science International, 2017
Functional characterization of CaVα2δ mutations associated with sudden cardiac death.
Bourdin B et al.
The Journal of Biological Chemistry, 2015
Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.
Harrell DT et al.
International Journal of Cardiology, 2015
Calcium Channel Mutations in Cardiac Arrhythmia Syndromes.
Betzenhauser MJ et al.
Current Molecular Pharmacology, 2015
Short QT Syndrome - Review of Diagnosis and Treatment.
Rudic B et al.
Arrhythmia & Electrophysiology Review, 2014
β-blockers in congenital short-QT syndrome as ion channel blockers.
Abriel H et al.
Journal of Cardiovascular Electrophysiology, 2013
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.
Crotti L et al.
Journal of the American College of Cardiology, 2012
Inherited calcium channelopathies in the pathophysiology of arrhythmias.
Venetucci L et al.
Nature Reviews. Cardiology, 2012
Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).
Templin C et al.
European Heart Journal, 2011
Congenital short QT syndrome: A review focused on electrocardiographic features.
Pérez-Riera AR et al.
Journal of Electrocardiology, 0