Ryanodine receptor 2 mutation: Not only catecholaminergic polymorphic ventricular tachycardia but also epileptiform discharges in electroencephalogram
- Author:
Yingfang She
;
Yide Li
;
Hang Yu
;
Liemin Zhou
- Publication Type:Case Reports
- Keywords:
Catecholaminergic polymorphic ventricular tachycardia, ryanodine receptor;
epilepsy;
Purkinje cells;
electroencephalogram
- From:Neurology Asia
2020;25(3):387-394
- CountryMalaysia
- Language:English
-
Abstract:
Ca2+ leak via ryanodine receptor type 2 (RyR2) can cause potentially fatal arrhythmias, and RyR2
mutations have been shown in the aetiology of catecholaminergic polymorphic ventricular tachycardia.
We report the case of a patient with catecholaminergic polymorphic ventricular tachycardia resulting
from a RYR2 mutation who had not only typical electroencephalogram changes, but also epileptiform
discharges in electroencephalogram. We believe the changes were closely related to the RYR2 mutation.
- Full text:7.2020my0057.pdf
