Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy

XiangWei, Wenshu; Kannan, Varun; Xu, Yuchen; J. Kosobucki, Gabrielle; J. Schulien, Anthony; Kusumoto, Hirofumi; Moufawad El Achkar, Christelle; Bhattacharya, Subhrajit; Lesca, Gaëtan; Nguyen, Sylvie; L. Helbig, Katherine; Cuisset, Jean‐Marie; Fenger, Christina; Marjanović, Dragan; Schuler, Elisabeth; Wu, Ye; Bao, Xinhua; Zhang, Yuehua; Dirkx, Nina; Schoonjans, An‐Sofie; Syrbe, Steffen; J. Myers, Scott; Poduri, Annapurna; Aizenman, Elias; F. Traynelis, Stephen; R. Lemke, Johannes; Yuan, Hongjie; Jiang, Yuwu

doi:10.1093/brain/awz232

Public

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy

Published in Brain • Jul 30, 2019

Authors:

Wenshu XiangWei

Varun Kannan

Yuchen Xu

Abstract

N-methyl d-aspartate receptors are ligand-gated ionotropic receptors mediating a slow, calcium-permeable component of excitatory synaptic transmission in the CNS. Variants in genes encoding NMDAR subunits have been associated with a spectrum of neurodevelopmental disorders. Here we report six novel ...

Subject

Epilepsy

NMDA receptor

Neuroscience

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