Associated Papers
Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling.
Scacchi S et al.
Plos One, 2024
Same Gene, Different Story (a Case Report of Congenital Long QT Syndrome Subtype 8 With a Novel Mutation).
Asad ZUA et al.
The American Journal of Cardiology, 2023
Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.
Jiang C et al.
Expert Reviews in Molecular Medicine, 2023
Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, "cardiac only" Timothy syndrome and isolated long QT syndrome 8: A systematic review.
Borbás J et al.
Frontiers in Cardiovascular Medicine, 2022
L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.
Tarnovskaya SI et al.
Membranes, 2021
Cav1.2 channelopathies causing autism: new hallmarks on Timothy syndrome.
Marcantoni A et al.
Pflugers Archiv : European Journal of Physiology, 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
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
Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia.
Zhang Q et al.
Channels (austin, Tex.), 2018
Computational Cardiac Modeling Reveals Mechanisms of Ventricular Arrhythmogenesis in Long QT Syndrome Type 8: CACNA1C R858H Mutation Linked to Ventricular Fibrillation.
Bai J et al.
Frontiers in Physiology, 2017
Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current.
Landstrom AP et al.
International Journal of Cardiology, 2016
Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.
Fukuyama M 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, 2014