Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features

We also show that a neurodegenerative mutation in the GluD2 LBD associated w/ cerebellar #ataxia selectively stabilizes closed apo conformations. This suggests “leaky” activation and/or impaired D-serine binding. Original clinical report @BioMedCentral: ht

Homozygous GRID2 missense #mutation https://t.co/QLDsIGDFce detected in 3 generation family w/t #cerebellar #syndrome slowly progressive cerebellar #ataxia and delayed #psychomotor development #Neurology https://t.co/cDOaVkrSQm