Condition: Catecholaminergic Polymorphic Ventricular Tachycardia Type 1


rs794728708 in RYR2 gene and Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 PMID 19926015 2009 The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

PMID 24136861 2014 Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

PMID 18752142 2008 Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.

PMID 21454795 2011 Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis.

PMID 16188589 2005 Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.

PMID 24025405 2013 New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.

PMID 20106799 2010 High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening.

PMID 14571276 2003 Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.

PMID 27231019 2016 Implantable Loop Recorder Monitoring for Refining Management of Children With Inherited Arrhythmia Syndromes.

PMID 15721128 2005 Unusual clinical presentation in a family with catecholaminergic polymorphic ventricular tachycardia due to a G14876A ryanodine receptor gene mutation.

PMID 28237968 2017 Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations.