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

• Glavni autori: Junji Hu (Autor), Xueping Gao (Autor), Longchang Chen (Autor), Tianshu Zhou (Autor), Zhaoli Du (Autor), Jinghan Jiang (Autor), Lei Wei (Autor), Zhijun Zhang (Autor)
• Format: Knjiga
• Izdano: Frontiers Media S.A., 2022-10-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

BackgroundRyanodine 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 chil...