Novel Ryanodine Receptor 2 Mutation Associated with a Severe Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia
The Journal of Pediatrics, 05/30/2012
LaPage MJ et al. – 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.