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- W4295909080 abstract "Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited, highly malignant cardiac channelopathy that causes autopsy-negative sudden deaths and sudden infant deaths. The symptoms of CPVT range from asymptomatic to syncopal. We present a patient who has had sporadic seizures for the last four years and was diagnosed with focal seizures. Genetic testing revealed heterozygosity for a variant of uncertain significance in the cardiac ryanodine receptor (RYR2). Pathogenic variants are known to be associated with CPVT. A subcutaneous implantable cardioverter-defibrillator (ICD) was placed and is being closely followed in the cardiology clinic." @default.
- W4295909080 created "2022-09-16" @default.
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- W4295909080 date "2022-08-09" @default.
- W4295909080 modified "2023-10-14" @default.
- W4295909080 title "Catecholaminergic Polymorphic Ventricular Tachycardia Presented As Generalized Tonic-Clonic Seizure: A Case Report" @default.
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- W4295909080 doi "https://doi.org/10.7759/cureus.27806" @default.
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