Ryanodine receptor 2 (RYR2) mutation: A potentially novel neurocardiac calcium channelopathy manifesting as primary generalised epilepsy
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology,General Medicine
Reference12 articles.
1. 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
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3. Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice;Lehnart;J Clin Invest,2008
4. Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients;Postma;J Med Genet,2005
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2. A novel RyR2 mutation associated with co-morbid catecholaminergic polymorphic ventricular tachycardia (CPVT) and benign epilepsy with centrotemporal spikes (BECTS);Journal of Electrocardiology;2024-05
3. Genetic generalized epilepsy with catecholaminergic polymorphic ventricular tachycardia complicated by ryanodine receptor 2 variant: A case report;Seizure: European Journal of Epilepsy;2024-04
4. Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene;Frontiers in Endocrinology;2024-02-20
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