GRIN2B

Publications

Endele S et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet. 2010;42(11):1021-6. PMID: 20890276.

Lemke JR et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013;45(9):1067-72. PMID: 23933819.

Platzer K et al. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet. 2017;54(7):460-470. PMID: 28377535.

Soto D et al. L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy. Sci Signal. 2019;12(586):eaaw0936. PMID: 31213567.

Platzer and Lemke, 03/2021 Genereviews. GRIN2B-Related Neurodevelopmental Disorder. https://www.ncbi.nlm.nih.gov/books/NBK501979/