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Journal Abstract Search

224 related items for PubMed ID: 31149903

  • 1. Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations.
    Lesca G, Møller RS, Rudolf G, Hirsch E, Hjalgrim H, Szepetowski P.
    Epileptic Disord; 2019 Jun 01; 21(S1):41-47. PubMed ID: 31149903
    [Abstract] [Full Text] [Related]

  • 2. 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 01; 40(3):205-210. PubMed ID: 29056244
    [Abstract] [Full Text] [Related]

  • 3. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
    Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, Salmi M, Tsintsadze T, Addis L, Motte J, Wright S, Tsintsadze V, Michel A, Doummar D, Lascelles K, Strug L, Waters P, de Bellescize J, Vrielynck P, de Saint Martin A, Ville D, Ryvlin P, Arzimanoglou A, Hirsch E, Vincent A, Pal D, Burnashev N, Sanlaville D, Szepetowski P.
    Nat Genet; 2013 Sep 01; 45(9):1061-6. PubMed ID: 23933820
    [Abstract] [Full Text] [Related]

  • 4. 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 01; 45(9):1073-6. PubMed ID: 23933818
    [Abstract] [Full Text] [Related]

  • 5. From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors.
    Rudolf G, Valenti MP, Hirsch E, Szepetowski P.
    Epilepsia; 2009 Aug 01; 50 Suppl 7():25-8. PubMed ID: 19682046
    [Abstract] [Full Text] [Related]

  • 6. Clinical genetic study of the epilepsy-aphasia spectrum.
    Tsai MH, Vears DF, Turner SJ, Smith RL, Berkovic SF, Sadleir LG, Scheffer IE.
    Epilepsia; 2013 Feb 01; 54(2):280-7. PubMed ID: 23294109
    [Abstract] [Full Text] [Related]

  • 7. [Study of GRIN2A mutation in epilepsy-aphasia spectrum disorders].
    Qian P, Yang X, Xu X, Liu X, Zhang Y, Yang Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Jun 10; 35(3):314-318. PubMed ID: 29896722
    [Abstract] [Full Text] [Related]

  • 8. 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 10; 59(10):1919-1930. PubMed ID: 30146685
    [Abstract] [Full Text] [Related]

  • 9. 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 10; 51(9):1870-3. PubMed ID: 20384727
    [Abstract] [Full Text] [Related]

  • 10. Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant.
    De Bernardi ML, Di Stazio A, Romano A, Minardi R, Bisulli F, Licchetta L, Aiello S, Carelli V, Brunetti-Pierri N, Cappuccio G, Terrone G.
    Eur J Med Genet; 2022 May 10; 65(5):104500. PubMed ID: 35367634
    [Abstract] [Full Text] [Related]

  • 11. Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.
    Lesca G, Rudolf G, Labalme A, Hirsch E, Arzimanoglou A, Genton P, Motte J, de Saint Martin A, Valenti MP, Boulay C, De Bellescize J, Kéo-Kosal P, Boutry-Kryza N, Edery P, Sanlaville D, Szepetowski P.
    Epilepsia; 2012 Sep 10; 53(9):1526-38. PubMed ID: 22738016
    [Abstract] [Full Text] [Related]

  • 12. GRIN2A-related epilepsy and speech disorders: A comprehensive overview with a focus on the role of precision therapeutics.
    Samanta D.
    Epilepsy Res; 2023 Jan 10; 189():107065. PubMed ID: 36516565
    [Abstract] [Full Text] [Related]

  • 13. 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 10; 45(9):1067-72. PubMed ID: 23933819
    [Abstract] [Full Text] [Related]

  • 14. 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 Sep 10; 12(2):e0170818. PubMed ID: 28182669
    [Abstract] [Full Text] [Related]

  • 15. Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder.
    Li X, Xie LL, Han W, Hong SQ, Ma JN, Wang J, Jiang L.
    Front Pediatr; 2020 Sep 10; 8():574803. PubMed ID: 33240831
    [Abstract] [Full Text] [Related]

  • 16. Immunotherapy for GRIN2A and GRIN2D-related epileptic encephalopathy.
    Hausman-Kedem M, Menascu S, Greenstein Y, Fattal-Valevski A.
    Epilepsy Res; 2020 Jul 10; 163():106325. PubMed ID: 32289570
    [Abstract] [Full Text] [Related]

  • 17. Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation.
    Fainberg N, Harper A, Tchapyjnikov D, Mikati MA.
    Epileptic Disord; 2016 Mar 10; 18(1):97-100. PubMed ID: 26806548
    [Abstract] [Full Text] [Related]

  • 18. Epilepsy: GRIN2A mutations identified as key genetic drivers of epilepsy-aphasia spectrum disorders.
    Kingwell K.
    Nat Rev Neurol; 2013 Oct 10; 9(10):541. PubMed ID: 23999465
    [No Abstract] [Full Text] [Related]

  • 19. Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a "pure" model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study.
    Pavlidis E, Møller RS, Nikanorova M, Kölmel MS, Stendevad P, Beniczky S, Tassinari CA, Rubboli G, Gardella E.
    Epilepsy Behav; 2019 Aug 10; 97():244-252. PubMed ID: 31254844
    [Abstract] [Full Text] [Related]

  • 20. [Speech and language neurodevelopmental disorders in epilepsy: pathophysiologic mechanisms and therapeutic approaches].
    Zavadenko NN, Kholin AA, Zavadenko AN, Michurina ES.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2018 Aug 10; 118(8):118-125. PubMed ID: 30251989
    [Abstract] [Full Text] [Related]

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