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Journal Abstract Search

237 related items for PubMed ID: 28182669

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  • 2. Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.
    Chen W, Tankovic A, Burger PB, Kusumoto H, Traynelis SF, Yuan H.
    Mol Pharmacol; 2017 Apr; 91(4):317-330. PubMed ID: 28126851
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  • 5. 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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  • 9. GRIN2A-related epilepsy and speech disorders: A comprehensive overview with a focus on the role of precision therapeutics.
    Samanta D.
    Epilepsy Res; 2023 Jan; 189():107065. PubMed ID: 36516565
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  • 14. GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
    Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC.
    Nat Genet; 2013 Sep; 45(9):1073-6. PubMed ID: 23933818
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  • 15. Epilepsy: GRIN2A mutations identified as key genetic drivers of epilepsy-aphasia spectrum disorders.
    Kingwell K.
    Nat Rev Neurol; 2013 Oct; 9(10):541. PubMed ID: 23999465
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  • 17. 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.
    Brain; 2019 Jan 01; 142(1):80-92. PubMed ID: 30544257
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  • 18. Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit.
    Sibarov DA, Bruneau N, Antonov SM, Szepetowski P, Burnashev N, Giniatullin R.
    Front Cell Neurosci; 2017 Jan 01; 11():155. PubMed ID: 28611597
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  • 19. Transient microstructural brain anomalies and epileptiform discharges in mice defective for epilepsy and language-related NMDA receptor subunit gene Grin2a.
    Salmi M, Bolbos R, Bauer S, Minlebaev M, Burnashev N, Szepetowski P.
    Epilepsia; 2018 Oct 01; 59(10):1919-1930. PubMed ID: 30146685
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  • 20. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
    Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S.
    Nat Genet; 2013 Sep 01; 45(9):1067-72. PubMed ID: 23933819
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