Dawid Larysz

Developmental encephalopathy concomitant with aphasia associated with a pathogenic variant in the GRIN2A gene

Mutations in the GRIN gene family, which encode subunits of the NMDA (N-methyl-D-aspartate) receptor, have been increasingly associated with a spectrum of neurodevelopmental disorders. Among them, GRIN2A mutations play a crucial regulatory role in the receptor's function, affecting synaptic transmission and brain p...