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SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE. Vlaskamp DRM, et al. Among authors: xiangwei w. Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12. Neurology. 2019. PMID: 30541864 Free PMC article.
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.
XiangWei W, Kannan V, Xu Y, Kosobucki GJ, Schulien AJ, Kusumoto H, Moufawad El Achkar C, Bhattacharya S, Lesca G, Nguyen S, Helbig KL, Cuisset JM, Fenger CD, Marjanovic D, Schuler E, Wu Y, Bao X, Zhang Y, Dirkx N, Schoonjans AS, Syrbe S, Myers SJ, Poduri A, Aizenman E, Traynelis SF, Lemke JR, Yuan H, Jiang Y. XiangWei W, et al. Brain. 2019 Oct 1;142(10):3009-3027. doi: 10.1093/brain/awz232. Brain. 2019. PMID: 31504254 Free PMC article.
De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.
Li J, Zhang J, Tang W, Mizu RK, Kusumoto H, XiangWei W, Xu Y, Chen W, Amin JB, Hu C, Kannan V, Keller SR, Wilcox WR, Lemke JR, Myers SJ, Swanger SA, Wollmuth LP, Petrovski S, Traynelis SF, Yuan H. Li J, et al. Among authors: xiangwei w. Hum Mutat. 2019 Dec;40(12):2393-2413. doi: 10.1002/humu.23895. Epub 2019 Sep 10. Hum Mutat. 2019. PMID: 31429998 Free PMC article.
21 results