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461 results

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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-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 …
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. ...Some of the rare variants are point mutations likely affecting channel function, but most are …
An important development is provided by recent data that strongly implicate GRIN2A, the gene encoding the NR2A (GluN2A) NMDA receptor …
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.
A genetically valid animal model could transform our understanding of schizophrenia (SCZ) disease mechanisms. Rare heterozygous loss-of-function (LoF) mutations in GRIN2A, encoding a subunit of the NMDA receptor, greatly increase the risk of SCZ. ...These findings reveal p …
A genetically valid animal model could transform our understanding of schizophrenia (SCZ) disease mechanisms. Rare heterozygous loss-of-func …
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 …
GRIN2A-Related Speech Disorders and Epilepsy.
Myers KA, Scheffer IE. Myers KA, et al. 2016 Sep 29. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2016 Sep 29. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 27683935 Free Books & Documents. Review.
The proportion of GRIN2A-related speech disorders and epilepsy caused by a de novo pathogenic variant is unknown. Each child of an individual with a GRIN2A-related speech disorder and epilepsy has a 50% chance of inheriting the GRIN2A pathogenic variant. ...
The proportion of GRIN2A-related speech disorders and epilepsy caused by a de novo pathogenic variant is unknown. Each child of an in …
Mapping genomic loci implicates genes and synaptic biology in schizophrenia.
Trubetskoy V, Pardiñas AF, Qi T, Panagiotaropoulou G, Awasthi S, Bigdeli TB, Bryois J, Chen CY, Dennison CA, Hall LS, Lam M, Watanabe K, Frei O, Ge T, Harwood JC, Koopmans F, Magnusson S, Richards AL, Sidorenko J, Wu Y, Zeng J, Grove J, Kim M, Li Z, Voloudakis G, Zhang W, Adams M, Agartz I, Atkinson EG, Agerbo E, Al Eissa M, Albus M, Alexander M, Alizadeh BZ, Alptekin K, Als TD, Amin F, Arolt V, Arrojo M, Athanasiu L, Azevedo MH, Bacanu SA, Bass NJ, Begemann M, Belliveau RA, Bene J, Benyamin B, Bergen SE, Blasi G, Bobes J, Bonassi S, Braun A, Bressan RA, Bromet EJ, Bruggeman R, Buckley PF, Buckner RL, Bybjerg-Grauholm J, Cahn W, Cairns MJ, Calkins ME, Carr VJ, Castle D, Catts SV, Chambert KD, Chan RCK, Chaumette B, Cheng W, Cheung EFC, Chong SA, Cohen D, Consoli A, Cordeiro Q, Costas J, Curtis C, Davidson M, Davis KL, de Haan L, Degenhardt F, DeLisi LE, Demontis D, Dickerson F, Dikeos D, Dinan T, Djurovic S, Duan J, Ducci G, Dudbridge F, Eriksson JG, Fañanás L, Faraone SV, Fiorentino A, Forstner A, Frank J, Freimer NB, Fromer M, Frustaci A, Gadelha A, Genovese G, Gershon ES, Giannitelli M, Giegling I, Giusti-Rodríguez P, Godard S, Goldstein JI, González Peñas J, González-Pinto A, … See abstract for full author list ➔ Trubetskoy V, et al. Nature. 2022 Apr;604(7906):502-508. doi: 10.1038/s41586-022-04434-5. Epub 2022 Apr 8. Nature. 2022. PMID: 35396580 Free PMC article.
Fine-mapped candidates were enriched for genes associated with rare disruptive coding variants in people with schizophrenia, including the glutamate receptor subunit GRIN2A and transcription factor SP4, and were also enriched for genes implicated by such variants in neurod …
Fine-mapped candidates were enriched for genes associated with rare disruptive coding variants in people with schizophrenia, including the g …
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 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 …
Mouse mutants in schizophrenia risk genes GRIN2A and AKAP11 show EEG abnormalities in common with schizophrenia patients.
Herzog LE, Wang L, Yu E, Choi S, Farsi Z, Song BJ, Pan JQ, Sheng M. Herzog LE, et al. Transl Psychiatry. 2023 Mar 13;13(1):92. doi: 10.1038/s41398-023-02393-7. Transl Psychiatry. 2023. PMID: 36914641 Free PMC article.
AKAP11 and GRIN2A mutations are also associated with bipolar disorder [2], and epilepsy and developmental delay/intellectual disability [1, 3, 4], respectively. ...Sleep spindle density was reduced in a gene dose-dependent manner in Akap11 mutants, whereas Grin2a mu …
AKAP11 and GRIN2A mutations are also associated with bipolar disorder [2], and epilepsy and developmental delay/intellectual disabili …
461 results