Condition: Stress-induced polymorphic ventricular tachycardia


rs121434549 in CASQ2 gene and Stress-induced polymorphic ventricular tachycardia PMID 21810866 2011 HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

PMID 15485681 2004 Calsequestrin mutant D307H exhibits depressed binding to its protein targets and a depressed response to calcium.

PMID 16908766 2006 Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.

PMID 11704930 2001 A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.

PMID 27157848 2016 A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.

PMID 18399795 2008 Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin.

PMID 17881003 2007 Characterization of human cardiac calsequestrin and its deleterious mutants.