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

• Main Authors: Junji Hu (Author), Xueping Gao (Author), Longchang Chen (Author), Tianshu Zhou (Author), Zhaoli Du (Author), Jinghan Jiang (Author), Lei Wei (Author), Zhijun Zhang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-10-01T00:00:00Z.
• Subjects: article
• Online Access: 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...