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

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

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

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

Author(s) -

Wenshu XiangWei,

Varun Kannan,

Yuchen Xu,

Gabrielle J. Kosobucki,

Anthony J. Schulien,

Hirofumi Kusumoto,

Christelle Moufawad El Achkar,

Subhrajit Bhattacharya,

Gaëtan Lesca,

Sylvie Nguyen,

Katherine L. Helbig,

JeanMarie Cuisset,

Christina Fenger,

Dragan Marjanović,

Elisabeth Schuler,

Ye Wu,

Xinhua Bao,

Yuehua Zhang,

Nina Dirkx,

AnSofie Schoonjans,

Steffen Syrbe,

Scott J. Myers,

Annapurna Poduri,

Elias Aizenman,

Stephen F. Traynelis,

Johannes R. Lemke,

Hongjie Yuan,

Yuwu Jiang

Publication year - 2019

Publication title -

brain

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.142

H-Index - 336

eISSN - 1460-2156

pISSN - 0006-8950

DOI - 10.1093/brain/awz232

Subject(s) - epilepsy , nmda receptor , neuroscience , encephalopathy , medicine , phenotype , neurotoxicity , glutamate receptor , biology , receptor , psychiatry , genetics , toxicity , gene

NMDA receptors are implicated in various neurological diseases. XiangWei et al. identify seven GRIN2D variants associated with developmental and epileptic encephalopathy. They describe the clinical phenotypes and evaluate functional changes, including pharmacological properties, surface trafficking, and neurotoxicity, as well as the responses to FDA-approved NMDAR drugs for potential rescue pharmacology.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research