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A novel mutation in ryanodine receptor 2 (RYR2) genes at c.12670G>T associated with focal epilepsy in a 3-year-old child

BACKGROUND: Ryanodine receptor 2 (RYR2) encodes a component of a calcium channel. RYR2 variants were well-reported to be associated with catecholaminergic polymorphic ventricular tachycardia (CPVT), but rarely reported in epilepsy cases. Here, we present a novel heterozygous mutation of RYR2 in a ch...

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Detalles Bibliográficos
Autores principales:	Hu, Junji, Gao, Xueping, Chen, Longchang, Zhou, Tianshu, Du, Zhaoli, Jiang, Jinghan, Wei, Lei, Zhang, Zhijun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9627620/ https://www.ncbi.nlm.nih.gov/pubmed/36340715 http://dx.doi.org/10.3389/fped.2022.1022268

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