Ryanodine receptor 2 (RYR2) mutation: A potentially novel neurocardiac calcium channelopathy manifesting as primary generalised epilepsy
نویسندگان
چکیده
منابع مشابه
A new mutation in the ryanodine receptor 2 gene (RYR2 C2277R) as a cause catecholaminergic polymorphic ventricular tachycardia.
(RYR2). Diagnosis usually requires an exercise stress test (EST) or adrenaline test. Our objective is to describe a kindred with 19 living members (Figure A), 4 with sudden death and 8 carriers of the new RYR2 C2277R variant (genotype+) (Figure B), 7 of whom exhibit the CPVT phenotype according to EST results (phenotype+). The proband (II: 1), aged 56, presented with syncope and palpitations. S...
متن کاملA novel ryanodine receptor mutation linked to sudden death increases sensitivity to cytosolic calcium.
RATIONALE Mutations in the cardiac type 2 ryanodine receptor (RyR2) have been linked to catecholaminergic polymorphic ventricular tachycardia (CPVT). CPVT-associated RyR2 mutations cause fatal ventricular arrhythmias in young individuals during β-adrenergic stimulation. OBJECTIVE This study sought to determine the effects of a novel RyR2-G230C mutation and whether this mutation and RyR2-P2328...
متن کاملShort-coupled polymorphic ventricular tachycardia at rest linked to a novel ryanodine receptor (RyR2) mutation: leaky RyR2 channels under non-stress conditions.
BACKGROUND Ryanodine receptor (RyR2) mutations have largely been associated with catecholaminergic polymorphic ventricular tachycardia (PMVT). The role of RyR2 mutations in the pathogenesis of arrhythmias and syncope at rest is unknown. We sought to characterize the clinical and functional characteristics associated with a novel RyR2 mutation found in a mother and daughter with PMVT at rest. ...
متن کاملMalignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes.
We have investigated if cultivated muscle cells from malignant hyperthermia (MH) patients can be distinguished pharmacologically from controls. Muscle specimens from four individuals carrying the Gly2435Arg mutation of the skeletal muscle ryanodine receptor protein (RYR1) and from four controls were used to culture myotubes. Resting intracellular calcium concentration ([Ca2+]i) of MH myotubes w...
متن کاملRyanodine receptor calcium release channels.
The ryanodine receptors (RyRs) are a family of Ca2+ release channels found on intracellular Ca2+ storage/release organelles. The RyR channels are ubiquitously expressed in many types of cells and participate in a variety of important Ca2+ signaling phenomena (neurotransmission, secretion, etc.). In striated muscle, the RyR channels represent the primary pathway for Ca2+ release during the excit...
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ژورنال
عنوان ژورنال: Seizure
سال: 2019
ISSN: 1059-1311
DOI: 10.1016/j.seizure.2019.02.017