Fry AE et al. De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain. 2018;141:698–712. PMID: 29365063.

Hamdan FF et al. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet. 2011;88:306–16. PMID: 21376300.

Lemke JR et al. Delineating the GRIN1 phenotypic spectrum. A distinct genetic NMDA receptor encephalopathy. Neurology. 2016;86:2171–8. PMID: 27164704.

Ohba C et al. GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. Epilepsia. 2015;56:841–8. PMID: 25864721.

Platzer and Lemke, 04/2021 Genereviews. GRIN1-Related Neurodevelopmental Disorder