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GRIN2A-Related Disorders.
Strehlow V, Myers KA, Morgan AT, Scheffer IE, Lemke JR. Strehlow V, et al. 2016 Sep 29 [updated 2024 Jul 4]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2016 Sep 29 [updated 2024 Jul 4]. 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: 27683935 Free Books & Documents. Review.
Movement disorders occur less frequently and include ataxia, dystonia, and chorea. DIAGNOSIS/TESTING: The diagnosis of a GRIN2A-related disorder is established in a proband by the identification of a GRIN2A heterozygous pathogenic variant on molecular genetic testin …
Movement disorders occur less frequently and include ataxia, dystonia, and chorea. DIAGNOSIS/TESTING: The diagnosis of a GRIN2A-relat …
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group. Strehlow V, et al. Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. Brain. 2019. PMID: 30544257 Free PMC article.
We performed a comprehensive assessment of phenotypes with a standardized questionnaire in 92 previously unreported individuals with GRIN2A-related disorders. Applying the criteria of the American College of Medical Genetics and Genomics to all published variants yielded 1 …
We performed a comprehensive assessment of phenotypes with a standardized questionnaire in 92 previously unreported individuals with GRIN …
GRIN2A (NR2A): a gene contributing to glutamatergic involvement in schizophrenia.
Harrison PJ, Bannerman DM. Harrison PJ, et al. Mol Psychiatry. 2023 Sep;28(9):3568-3572. doi: 10.1038/s41380-023-02265-y. Epub 2023 Sep 22. Mol Psychiatry. 2023. PMID: 37736757 Free PMC article. Review.
An important development is provided by recent data that strongly implicate GRIN2A, the gene encoding the NR2A (GluN2A) NMDA receptor subunit, in the aetiology of the disorder. ...We review the genomic evidence, and the findings from Grin2a mutant mice and other mod …
An important development is provided by recent data that strongly implicate GRIN2A, the gene encoding the NR2A (GluN2A) NMDA receptor …
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 …
Brain-region-specific changes in neurons and glia and dysregulation of dopamine signaling in Grin2a mutant mice.
Farsi Z, Nicolella A, Simmons SK, Aryal S, Shepard N, Brenner K, Lin S, Herzog L, Moran SP, Stalnaker KJ, Shin W, Gazestani V, Song BJ, Bonanno K, Keshishian H, Carr SA, Pan JQ, Macosko EZ, Datta SR, Dejanovic B, Kim E, Levin JZ, Sheng M. Farsi Z, et al. Neuron. 2023 Nov 1;111(21):3378-3396.e9. doi: 10.1016/j.neuron.2023.08.004. Epub 2023 Aug 31. Neuron. 2023. PMID: 37657442 Free article.
Rare heterozygous loss-of-function (LoF) mutations in GRIN2A, encoding a subunit of the NMDA receptor, greatly increase the risk of SCZ. By transcriptomic, proteomic, and behavioral analyses, we report that heterozygous Grin2a mutant mice show (1) large-scale gene e …
Rare heterozygous loss-of-function (LoF) mutations in GRIN2A, encoding a subunit of the NMDA receptor, greatly increase the risk of S …
GRIN2A-related epilepsy and speech disorders: A comprehensive overview with a focus on the role of precision therapeutics.
Samanta D. Samanta D. Epilepsy Res. 2023 Jan;189:107065. doi: 10.1016/j.eplepsyres.2022.107065. Epub 2022 Dec 11. Epilepsy Res. 2023. PMID: 36516565 Review.
The GRIN2A gene encodes GluN2A protein, which constitutes a subunit of the NMDA receptor (NMDAR). The GRIN2A pathogenic variants cause gain or loss of function of NMDAR; the former can be treated with uncompetitive NMDAR antagonists, such as memantine, while the lat …
The GRIN2A gene encodes GluN2A protein, which constitutes a subunit of the NMDA receptor (NMDAR). The GRIN2A pathogenic varian …
De novo GRIN2A variants associated with epilepsy and autism and literature review.
Mangano GD, Riva A, Fontana A, Salpietro V, Mangano GR, Nobile G, Orsini A, Iacomino M, Battini R, Astrea G, Striano P, Nardello R. Mangano GD, et al. Epilepsy Behav. 2022 Apr;129:108604. doi: 10.1016/j.yebeh.2022.108604. Epub 2022 Feb 23. Epilepsy Behav. 2022. PMID: 35217385 Review.
N-methyl-D-aspartate receptors (NMDAR) are di- or tri-heterotetrameric ligand-gated ion channels composed of two obligate glycine-binding GluN1 subunits and two glutamate-binding GluN2 or GluN3 subunits, encoded by GRIN1, GRIN2A-D, and GRIN3A-B receptor genes respectively. …
N-methyl-D-aspartate receptors (NMDAR) are di- or tri-heterotetrameric ligand-gated ion channels composed of two obligate glycine-binding Gl …
Distinct roles of GRIN2A and GRIN2B variants in neurological conditions.
Myers SJ, Yuan H, Kang JQ, Tan FCK, Traynelis SF, Low CM. Myers SJ, et al. F1000Res. 2019 Nov 20;8:F1000 Faculty Rev-1940. doi: 10.12688/f1000research.18949.1. eCollection 2019. F1000Res. 2019. PMID: 31807283 Free PMC article. Review.
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 phenot …
This review compares and contrasts the available information describing the clinical and functional consequences of genetic variations in …
GRIN2A and Schizophrenia: Scientific Evidence and Biological Mechanisms.
Sheng XM, Guan W. Sheng XM, et al. Curr Neuropharmacol. 2025;23(6):621-634. doi: 10.2174/011570159X327712241023084944. Curr Neuropharmacol. 2025. PMID: 39501956 Free PMC article. Review.
Most GRIN2A variants have been predicted to cause protein truncation, which results in reduced gene expression. ...Therefore, this review focuses on GRIN2A as a target for novel antipsychotics and discusses the mechanisms by which GRIN2A modulates antischizop …
Most GRIN2A variants have been predicted to cause protein truncation, which results in reduced gene expression. ...Therefore, this re …
GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.
Liu XR, Xu XX, Lin SM, Fan CY, Ye TT, Tang B, Shi YW, Su T, Li BM, Yi YH, Luo JH, Liao WP. Liu XR, et al. Front Mol Neurosci. 2021 Oct 14;14:720984. doi: 10.3389/fnmol.2021.720984. eCollection 2021. Front Mol Neurosci. 2021. PMID: 34720871 Free PMC article.
Objective: The objective of this study is to explore the role of GRIN2A gene in idiopathic generalized epilepsies and the potential underlying mechanism for phenotypic variation. ...Results: Three novel heterozygous missense GRIN2A mutations (c.1770A > C/p.K590N, …
Objective: The objective of this study is to explore the role of GRIN2A gene in idiopathic generalized epilepsies and the potential u …
580 results