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A. Bryzik

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Open access Aug 2026

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...

A. Bryzik, Dawid Larysz, P. Larysz et al. · 0 citations

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