Cerebellar alteration in a mouse model of GRIN2D-related developmental and epileptic encephalopathies
Mor Yam, Danielle Galber, Wayne N. Frankel, Karen B. Avraham, Moran Rubinstein · FENS Forum 2024
Mutations in the GRIN2D gene, encoding one of the subunits of NMDA receptor (NMDAR), are associated with developmental and epileptic encephalopathies (DEE). The clinical presentation of DEE includes epilepsy, motor and cognitive deficits, developmental delay, and a high mortality rate. Grin2d mice carrying the pathogenic V667I variant recapitulate key phenotypes of the human disease.To explore the effect of the Grin2d mutation on neuronal and synaptic functions, we used acute cerebellum brain slices recorded from wild-type (WT) and Grin2d mice. We recorded neuronal activity from Purkinje neuro
ePoster · Neuroscience