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RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia

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 studies have identified the RYR2 mutations...

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Detalles Bibliográficos
Autores principales:	Ma, Mei-Gang, Liu, Xiao-Rong, Wu, Yuan, Wang, Jie, Li, Bing-Mei, Shi, Yi-Wu, Su, Tao, Li, Bin, Liu, De-Tian, Yi, Yong-Hong, Liao, Wei-Ping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8058200/ https://www.ncbi.nlm.nih.gov/pubmed/33897349 http://dx.doi.org/10.3389/fnins.2021.629610

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