Associated Papers
Primary Electrical Heart Disease-Principles of Pathophysiology and Genetics.
Badura K et al.
International Journal of Molecular Sciences, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1
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
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
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
Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia.
Zhang Q et al.
Channels (austin, Tex.), 2018
Molecular and Functional Characterization of Rare CACNA1C Variants in Sudden Unexplained Death in the Young.
Sutphin BS et al.
Congenital Heart Disease, 2016
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
What can naturally occurring mutations tell us about Ca(v)1.x channel function?
Stockner T et al.
Biochimica Et Biophysica Acta, 2013
Inherited calcium channelopathies in the pathophysiology of arrhythmias.
Venetucci L et al.
Nature Reviews. Cardiology, 2012
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
Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.
Burashnikov E et al.
Heart Rhythm, 2010
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