title: Novel ryanodine receptor 2 mutation associated with a severe phenotype of catecholaminergic polymorphic ventricular tachycardia.
abstract: An adolescent girl with a history of anxiety associated seizure-like episodes was ultimately diagnosed with catecholaminergic polymorphic ventricular tachycardia. She tested positive for a novel mutation of the ryanodine receptor. The report underscores how genetic arrhythmia syndromes may be mistaken for neurologic disorders.
authors.affiliation: Division of Pediatric Cardiology, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA. mlapage@med.umich.edu
authors.forename: Martin J
authors.initials: MJ
authors.lastname: LaPage
authors.forename: Mark W
authors.initials: MW
authors.lastname: Russell
authors.forename: David J
authors.initials: DJ
authors.lastname: Bradley
authors.forename: Macdonald
authors.initials: M
authors.lastname: Dick
mesh_terms: D000293:Adolescent; D001007:Anxiety / Q000150:complications; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D010641:Phenotype; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D012640:Seizures / Q000150:complications; D017180:Tachycardia, Ventricular / Q000150:complications / Q000235:genetics* / Q000523:psychology; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel