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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, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2019 Jun 20 [updated 2021 Apr 1]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 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 …
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 …
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 …
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 …
Grin1 (Y) (647) (S/+) Mice: A Preclinical Model of GRIN1 -Related Neurodevelopmental Disorder.
Sullivan MT, Tidball P, Yan Y, Intson K, Chen W, Xu Y, Venkatesan S, Horsfall W, Georgiou J, Finnie PSB, Lambe EK, Traynelis SF, Salahpour A, Yuan H, Collingridge GL, Ramsey AJ. Sullivan MT, et al. bioRxiv [Preprint]. 2024 Aug 21:2024.08.21.608984. doi: 10.1101/2024.08.21.608984. bioRxiv. 2024. PMID: 39229143 Free PMC article. Preprint.
OBJECTIVE: GRIN1 -related neurodevelopmental disorder ( GRIN1 -NDD) is characterized by clinically significant variation in the GRIN1 gene, which encodes the obligatory GluN1 subunit of N-methyl-D-aspartate receptors (NMDARs). ...Ultimately, the characterizat …
OBJECTIVE: GRIN1 -related neurodevelopmental disorder ( GRIN1 -NDD) is characterized by clinically significant variation in th …
Systematic analysis to identify novel disease indications and plausible potential chemical leads of glutamate ionotropic receptor NMDA type subunit 1, GRIN1.
Bhardwaj T, Ahmad I, Somvanshi P. Bhardwaj T, et al. J Mol Recognit. 2023 Jan;36(1):e2997. doi: 10.1002/jmr.2997. Epub 2022 Nov 8. J Mol Recognit. 2023. PMID: 36259267
The present meta-analysis prioritizes novel disease indications viz. rare and orphan diseases associated with target Glutamate Ionotropic Receptor NMDA Type Subunit 1, GRIN1 using text mining knowledge-based tools. Furthermore, ZINC database was virtually screened, and bin …
The present meta-analysis prioritizes novel disease indications viz. rare and orphan diseases associated with target Glutamate Ionotropic Re …
Progressive neuroanatomical changes caused by Grin1 loss-of-function mutation.
Intson K, van Eede MC, Islam R, Milenkovic M, Yan Y, Salahpour A, Henkelman RM, Ramsey AJ. Intson K, et al. Neurobiol Dis. 2019 Dec;132:104527. doi: 10.1016/j.nbd.2019.104527. Epub 2019 Jul 9. Neurobiol Dis. 2019. PMID: 31299220 Free article.
To gain insight into possible biomarkers of NMDAR hypofunction, we asked whether a loss-of-function variant in the Grin1 gene would cause structural changes in the brain that could be detected by MRI. ...We performed magnetic resonance imaging in male Grin1-/- knock …
To gain insight into possible biomarkers of NMDAR hypofunction, we asked whether a loss-of-function variant in the Grin1 gene would c …
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.
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 …
548 results