Associated Papers
CACNA1C-Related Channelopathies.
Herold KG et al.
Handbook of Experimental Pharmacology, 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
Cav1.2 channelopathies causing autism: new hallmarks on Timothy syndrome.
Marcantoni A et al.
Pflugers Archiv : European Journal of Physiology, 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
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
Calcium Signaling and Cardiac Arrhythmias.
Landstrom AP et al.
Circulation Research, 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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.
Boczek NJ et al.
Circulation. Arrhythmia and Electrophysiology, 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
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