Article
Functional Evaluation of a Novel GRIN2B Missense Variant Associated with Epilepsy and Intellectual Disability.
Neuroscience - 21 Aug 2023
Wang Xiaona, Mei Daoqi, Gou Lingshan, Zhao Shuai, Gao Chao, Guo Jisheng, Luo Shuying, Guo Bin, Yang Zhigang, Wang Qi, Tan Tao, Zhang Yaodong
Abstract excerpt
Epilepsy, a neurological condition, is widely prevalent among individuals with intellectual disability (ID). It is well established that N-methyl-D-aspartate (NMDA) receptors play an important role in both epilepsy and ID. Autosomal dominant mutations in the GRIN2B gene, which encodes the GluN2B subunit of the NMDA receptor, have been reported to be associated with epilepsy and ID. However, the underlying...
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