Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations
Sign Up to like & getrecommendations! Published in 2021 at "Circulation: Arrhythmia and Electrophysiology"
DOI: 10.1161/circep.121.010013
Abstract: Supplemental Digital Content is available in the text. Background: The overall objective of the present study is to extend our understanding of the clinical phenotype and underlying mechanism of a newly discovered cardiac arrhythmia syndrome… read more here.
Keywords: function mutations; ryr2 mutations; loss function; function ... See more keywords
RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2021.629610
Abstract: RYR2 encodes ryanodine receptor 2 protein (RYR-2) that is mainly located on endoplasmic reticulum membrane and regulates intracellular calcium concentration. The RYR-2 protein is ubiquitously distributed and highly expressed in the heart and brain. Previous… read more here.
Keywords: epilepsy; childhood centrotemporal; ryr2 mutations; benign epilepsy ... See more keywords