A mouse model of GRIN2D developmental and epileptic encephalopathy recapitulates the human disease.
Brain : a journal of neurology April 25, 2025 Mor Yam, Jolan Nassir, Danielle Galber et al. 3 citations
Pathogenic variants in GRIN2D, encoding one of the subunits of the NMDA receptor (NMDAR), are associated with developmental and epileptic encephalopathies (DEEs). Unusual for de novo mutations, the recurrent, de-novo, gain of function, missense mutation c.1999G>A (p.Val667Ile) was discovered in multiple patients. We characterized a mouse model carrying the orthologous Grin2d mutation, using...