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Rapid advances in sequencing technology have led to an explosive increase in the number of genetic variants identified in patients with neurological disease and have also enabled the assembly of a robust database of variants in healthy individuals. A surprising number of variants in the  GRIN  genes that encode  N -methyl-D-aspartate (NMDA) glutamatergic receptor subunits have been found in patients with various neuropsychiatric disorders, including autism spectrum disorders, epilepsy, intellectual disability, attention-deficit/hyperactivity disorder, and schizophrenia. This review compares and contrasts the available information describing the clinical and functional consequences of genetic variations in  GRIN2A  and  GRIN2B.  Comparison of clinical phenotypes shows that  GRIN2A  variants are commonly associated with an epileptic phenotype but that  GRIN2B  variants are commonly found in patients with neurodevelopmental disorders. These observations emphasize the distinct roles that the gene products serve in circuit function and suggest that functional analysis of  GRIN2A  and  GRIN2B  variation may provide insight into the molecular mechanisms, which will allow more accurate subclassification of clinical phenotypes. Furthermore, characterization of the pharmacological properties of variant receptors could provide the first opportunity for translational therapeutic strategies for these  GRIN -related neurological and psychiatric disorders.

Distinct roles of GRIN2A and GRIN2B variants in neurological conditions