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Journal Abstract Search

290 related items for PubMed ID: 35217385

  • 1. 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.
    Epilepsy Behav; 2022 Apr; 129():108604. PubMed ID: 35217385
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  • 2. A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.
    Gao K, Tankovic A, Zhang Y, Kusumoto H, Zhang J, Chen W, XiangWei W, Shaulsky GH, Hu C, Traynelis SF, Yuan H, Jiang Y.
    PLoS One; 2017 Apr; 12(2):e0170818. PubMed ID: 28182669
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  • 3. Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy.
    Gjerulfsen CE, Krey I, Klöckner C, Rubboli G, Lemke JR, Møller RS.
    Methods Mol Biol; 2024 Apr; 2799():1-11. PubMed ID: 38727899
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  • 4. Distinct roles of GRIN2A and GRIN2B variants in neurological conditions.
    Myers SJ, Yuan H, Kang JQ, Tan FCK, Traynelis SF, Low CM.
    F1000Res; 2019 Apr; 8():. PubMed ID: 31807283
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Strehlow V, Myers KA, Morgan AT, Scheffer IE, Lemke JR.
    ; 1993 Apr. PubMed ID: 27683935
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  • 9. Functional assessment of triheteromeric NMDA receptors containing a human variant associated with epilepsy.
    Marwick KFM, Hansen KB, Skehel PA, Hardingham GE, Wyllie DJA.
    J Physiol; 2019 Mar; 597(6):1691-1704. PubMed ID: 30604514
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  • 11. Opportunities for Precision Treatment of GRIN2A and GRIN2B Gain-of-Function Variants in Triheteromeric N-Methyl-D-Aspartate Receptors.
    Han W, Yuan H, Allen JP, Kim S, Shaulsky GH, Perszyk RE, Traynelis SF, Myers SJ.
    J Pharmacol Exp Ther; 2022 Apr; 381(1):54-66. PubMed ID: 35110392
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  • 13. 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.
    Physiol Res; 2024 May 31; 73(Suppl 1):S413-S434. PubMed ID: 38836461
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  • 14. Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.
    Reutlinger C, Helbig I, Gawelczyk B, Subero JI, Tönnies H, Muhle H, Finsterwalder K, Vermeer S, Pfundt R, Sperner J, Stefanova I, Gillessen-Kaesbach G, von Spiczak S, van Baalen A, Boor R, Siebert R, Stephani U, Caliebe A.
    Epilepsia; 2010 Sep 31; 51(9):1870-3. PubMed ID: 20384727
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  • 16. Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders.
    Shepard N, Baez-Nieto D, Iqbal S, Kurganov E, Budnik N, Campbell AJ, Pan JQ, Sheng M, Farsi Z.
    Sci Rep; 2024 Feb 02; 14(1):2798. PubMed ID: 38307912
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  • 18. GRIN2A mutations in epilepsy-aphasia spectrum disorders.
    Yang X, Qian P, Xu X, Liu X, Wu X, Zhang Y, Yang Z.
    Brain Dev; 2018 Mar 02; 40(3):205-210. PubMed ID: 29056244
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