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 Caused by a Homozygous Pathogenic Variant in Calsequestrin 2 Gene].
Komissarova SM et al.
Kardiologiia, 2025
A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome.
Ni M et al.
Jama, 2024
Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene.
Askarinejad A et al.
Gene, 2024
Importance of exercise stress testing in evaluation of unexplained cardiac arrest survivor.
Bergeman AT et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2023
The function and regulation of calsequestrin-2: implications in calcium-mediated arrhythmias.
Sibbles ET et al.
Biophysical Reviews, 2022
An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia.
Ng K et al.
Circulation, 2020
CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia.
Li Q et al.
Molecular Genetics & Genomic Medicine, 2019
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.
Jabbari J et al.
Circulation. Cardiovascular Genetics, 2013
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
Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.
Roux-Buisson N et al.
Human Mutation, 2011
Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis.
Priori SG et al.
Circulation Research, 2011
A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations.
de la Fuente S et al.
Pacing and Clinical Electrophysiology : Pace, 2008