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Page 1
GRIN1-Related Neurodevelopmental Disorder.
Platzer K, Lemke JR. Platzer K, et al. 2019 Jun 20 [updated 2021 Apr 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2019 Jun 20 [updated 2021 Apr 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 31219694 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: GRIN1-related neurodevelopmental disorder (GRIN1-NDD) is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected individuals. ...A subset of individuals show a malformation of cortical develop …
CLINICAL CHARACTERISTICS: GRIN1-related neurodevelopmental disorder (GRIN1-NDD) is characterized by mild-to-profound developme …
A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy.
Blakes AJM, English J, Banka S, Basu H. Blakes AJM, et al. Am J Med Genet A. 2022 Feb;188(2):595-599. doi: 10.1002/ajmg.a.62528. Epub 2021 Oct 6. Am J Med Genet A. 2022. PMID: 34611970 Review.
Pathogenic variants in glutamate receptor, ionotropic, NMDA-1 (GRIN1) cause an autosomal dominant or recessive neurodevelopmental disorder with global developmental delay, with or without seizures (AD or AR GRIN1-NDD). ...A similarly severe phenotype of intractable …
Pathogenic variants in glutamate receptor, ionotropic, NMDA-1 (GRIN1) cause an autosomal dominant or recessive neurodevelopmental dis …
Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.
Korinek M, Candelas Serra M, Abdel Rahman F, Dobrovolski M, Kuchtiak V, Abramova V, Fili K, Tomovic E, Hrcka Krausova B, Krusek J, Cerny J, Vyklicky L, Balik A, Smejkalova T. Korinek M, et al. Physiol Res. 2024 May 31;73(Suppl 1):S413-S434. doi: 10.33549/physiolres.935346. Epub 2024 May 31. Physiol Res. 2024. PMID: 38836461 Free PMC article. Review.
Here we review the current literature on the functional evaluation of human disease-associated variants in GRIN1, GRIN2A and GRIN2B genes at all levels of analysis. Focusing on the impact of different patient variants at the level of receptor function, we discuss effects o …
Here we review the current literature on the functional evaluation of human disease-associated variants in GRIN1, GRIN2A and GRIN2B g …
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.
Ragnarsson L, Zhang Z, Das SS, Tran P, Andersson Å, des Portes V, Desmettre Altuzarra C, Remerand G, Labalme A, Chatron N, Sanlaville D, Lesca G, Anggono V, Vetter I, Keramidas A. Ragnarsson L, et al. Epilepsia. 2023 Dec;64(12):3377-3388. doi: 10.1111/epi.17776. Epub 2023 Oct 17. Epilepsia. 2023. PMID: 37734923 Free PMC article.
NMDA receptors are critical to brain development and cognitive function. Natural variants to the GRIN1 gene, which encodes the obligatory GluN1 subunit of the NMDA receptor, are associated with severe neurological disorders that include epilepsy, intellectual disability, a …
NMDA receptors are critical to brain development and cognitive function. Natural variants to the GRIN1 gene, which encodes the obliga …
De novo mutations in epileptic encephalopathies.
Epi4K Consortium; Epilepsy Phenome/Genome Project; Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR. Epi4K Consortium, et al. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11. Nature. 2013. PMID: 23934111 Free PMC article.
Other genes with de novo mutations in this cohort include CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR and NEDD4L. Finally, we show that the de novo mutations observed are enriched in specific gene sets including genes regulated by the fragile X protein …
Other genes with de novo mutations in this cohort include CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR and NEDD4L …
Recurrent seizure-related GRIN1 variant: Molecular mechanism and targeted therapy.
Xu Y, Song R, Chen W, Strong K, Shrey D, Gedela S, Traynelis SF, Zhang G, Yuan H. Xu Y, et al. Ann Clin Transl Neurol. 2021 Jul;8(7):1480-1494. doi: 10.1002/acn3.51406. Epub 2021 Jul 6. Ann Clin Transl Neurol. 2021. PMID: 34227748 Free PMC article.
RESULTS: A recurrent de novo missense variant in GRIN1 (c.1923G>A, p.Met641Ile), which encodes the GluN1 subunit, was identified in a pediatric patient with drug-resistant seizures and early-onset epileptic encephalopathy. ...INTERPRETATION: Our finding contributes to t …
RESULTS: A recurrent de novo missense variant in GRIN1 (c.1923G>A, p.Met641Ile), which encodes the GluN1 subunit, was identified i …
GRIN1 Mutations in Early-Onset Epileptic Encephalopathy.
Chen W, Yuan H. Chen W, et al. Pediatr Neurol Briefs. 2015 Jun;29(6):44. doi: 10.15844/pedneurbriefs-29-6-3. Pediatr Neurol Briefs. 2015. PMID: 26933583 Free PMC article.
Investigators from Yokohama City University and other medical centers in Israel and Japan reported mutations on N-methyl-D-aspartate (NMDA) receptors subunit GRIN1 (GluN1) identified in patients with nonsyndromic intellectual disability and early-onset epileptic encephalop …
Investigators from Yokohama City University and other medical centers in Israel and Japan reported mutations on N-methyl-D-aspartate (NMDA) …
Grin1 receptor deletion within CRF neurons enhances fear memory.
Gafford G, Jasnow AM, Ressler KJ. Gafford G, et al. PLoS One. 2014 Oct 23;9(10):e111009. doi: 10.1371/journal.pone.0111009. eCollection 2014. PLoS One. 2014. PMID: 25340785 Free PMC article.
In these studies, mice that have the gene that encodes NR1 (Grin1) flanked by loxP sites (floxed) were crossed with our previously developed CRFp3.0Cre mouse to selectively disrupt Grin1 within CRF containing neurons (Cre+/fGrin1+). ...Altogether, these findings sug …
In these studies, mice that have the gene that encodes NR1 (Grin1) flanked by loxP sites (floxed) were crossed with our previously de …
Autoimmune encephalitis.
Goodfellow JA, Mackay GA. Goodfellow JA, et al. J R Coll Physicians Edinb. 2019 Dec;49(4):287-294. doi: 10.4997/JRCPE.2019.407. J R Coll Physicians Edinb. 2019. PMID: 31808454 Review.
482 results