Recurrent seizure‐related GRIN1 variant: Molecular mechanism and targeted therapy

Abstract Objective Genetic variants in the GRIN genes that encode N‐methyl‐D‐aspartate receptor (NMDAR) subunits have been identified in various neurodevelopmental disorders, including epilepsy. We identified a GRIN1 variant from an individual with early‐onset epileptic encephalopathy, evaluated fun...

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Những tác giả chính: Yuchen Xu, Rui Song, Wenjuan Chen, Katie Strong, Daniel Shrey, Satyanarayana Gedela, Stephen F. Traynelis, Guojun Zhang, Hongjie Yuan
Định dạng: Bài viết
Ngôn ngữ:English
Được phát hành: Wiley 2021-07-01
Loạt:Annals of Clinical and Translational Neurology
Truy cập trực tuyến:https://doi.org/10.1002/acn3.51406