Associated Papers
The emerging role of calsequestrin 2: from calcium sensor and modulator to arrhythmia driver.
Rajha HE et al.
Journal of Physiology and Biochemistry, 2026
Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene.
Askarinejad A et al.
Gene, 2024
Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China: A Systematic Review.
Leung J et al.
Life (basel, Switzerland), 2022
The function and regulation of calsequestrin-2: implications in calcium-mediated arrhythmias.
Sibbles ET et al.
Biophysical Reviews, 2022
CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia.
Li Q et al.
Molecular Genetics & Genomic Medicine, 2019
Compound heterozygous CASQ2 mutations and long-term course of catecholaminergic polymorphic ventricular tachycardia.
Josephs K et al.
Molecular Genetics & Genomic Medicine, 2017
Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.
Delio M et al.
Plos One, 2015
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Catecholaminergic polymorphic ventricular tachycardia.
Leenhardt A et al.
Circulation. Arrhythmia and Electrophysiology, 2012
Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia.
Faggioni M et al.
Pediatric Cardiology, 2012
Calsequestrin 2 and arrhythmias.
Faggioni M et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2012
Flecainide therapy reduces exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia.
van der Werf C et al.
Journal of the American College of Cardiology, 2011
Chain-reaction Ca(2+) signaling in the heart.
Györke S et al.
The Journal of Clinical Investigation, 2007
Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights.
Kontula K et al.
Cardiovascular Research, 2005
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia.
Postma AV et al.
Circulation Research, 2002