Associated Papers
Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus Statement.
Underwood JFG et al.
Research Square, 2025
Biphasic effects on human atrial arrhythmogenicity of L-type calcium channel mutations associated with a Brugada/Short QT overlap syndrome - insights from a multiscale simulation study.
Xiang Y et al.
Plos Computational Biology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Interpreting the actionable clinical role of rare variants associated with short QT syndrome.
Martínez-Barrios E et al.
Human Genetics, 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
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
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
Role of Ca2+ in healthy and pathologic cardiac function: from normal excitation-contraction coupling to mutations that cause inherited arrhythmia.
Keefe JA et al.
Archives of Toxicology, 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
Identification of ultra-rare disruptive variants in voltage-gated calcium channel-encoding genes in Japanese samples of schizophrenia and autism spectrum disorder.
Wang C et al.
Translational Psychiatry, 2022
Deciphering the pathogenic role of a variant with uncertain significance for short QT and Brugada syndromes using gene-edited human-induced pluripotent stem cell-derived cardiomyocytes and preclinical drug screening.
El-Battrawy I et al.
Clinical and Translational Medicine, 2021
L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.
Tarnovskaya SI et al.
Membranes, 2021
Clinical and Functional Genetic Characterization of the Role of Cardiac Calcium Channel Variants in the Early Repolarization Syndrome.
Chen X et al.
Frontiers in Cardiovascular Medicine, 2021
Cav1.2 channelopathies causing autism: new hallmarks on Timothy syndrome.
Marcantoni A et al.
Pflugers Archiv : European Journal of Physiology, 2020
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Campuzano O et al.
Journal of Clinical Medicine, 2019
A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.
Ye D et al.
Heart Rhythm, 2019
Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.
Gardner RJM et al.
Molecular Genetics & Genomic Medicine, 2019
Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.
Bozarth X et al.
American Journal of Medical Genetics. Part A, 2018
An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation.
Blancard M et al.
Scientific Reports, 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
The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome.
Hu D et al.
Jacc. Clinical Electrophysiology, 2017
Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.
Wu Y et al.
Forensic Sciences Research, 2017
[Brugada syndrome--a rare cause of syncope and sudden death].
Levin CG et al.
Lakartidningen, 2015
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.
Wemhöner K et al.
Journal of Molecular and Cellular 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
Effect of the Brugada syndrome mutation A39V on calmodulin regulation of Cav1.2 channels.
Simms BA et al.
Molecular Brain, 2014
Channelopathy pathogenesis in autism spectrum disorders.
Schmunk G et al.
Frontiers in Genetics, 2013
β-blockers in congenital short-QT syndrome as ion channel blockers.
Abriel H et al.
Journal of Cardiovascular Electrophysiology, 2013
Arrhythmogenesis in Brugada syndrome: impact and constrains of current concepts.
Bébarová M
International Journal of Cardiology, 2013
What can naturally occurring mutations tell us about Ca(v)1.x channel function?
Stockner T et al.
Biochimica Et Biophysica Acta, 2013
Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.
Boczek NJ et al.
Circulation. Cardiovascular Genetics, 2013
Congenital short QT syndrome: landmarks of the newest arrhythmogenic cardiac channelopathy.
Pérez Riera AR et al.
Cardiology Journal, 2013
The genetic component of Brugada syndrome.
Nielsen MW et al.
Frontiers in Physiology, 2013
Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation.
Hong K et al.
European Journal of Human Genetics : Ejhg, 2012
Inherited calcium channelopathies in the pathophysiology of arrhythmias.
Venetucci L et al.
Nature Reviews. Cardiology, 2012
Arrhythmia-associated cardiac Ca²(+) cycling proteins and gene mutations.
Kochhäuser S et al.
Wiener Medizinische Wochenschrift (1946), 2012
The Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1.2 channels.
Simms BA et al.
Molecular Brain, 2012
Hallmarks of the channelopathies associated with L-type calcium channels: a focus on the Timothy mutations in Ca(v)1.2 channels.
Bidaud I et al.
Biochimie, 2011
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel.
Napolitano C et al.
Circulation Research, 2011
Short QT syndrome: from bench to bedside.
Patel C et al.
Circulation. Arrhythmia and Electrophysiology, 2010
Absence of calcium channel alpha1C-subunit mutation in human atrial fibrillation.
Soon JL et al.
Asian Cardiovascular & Thoracic Annals, 2010