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Journal Abstract Search

238 related items for PubMed ID: 26252990

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  • 3. The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin.
    Barker BS, Ottolini M, Wagnon JL, Hollander RM, Meisler MH, Patel MK.
    Epilepsia; 2016 Sep; 57(9):1458-66. PubMed ID: 27375106
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  • 4. Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons.
    Tidball AM, Lopez-Santiago LF, Yuan Y, Glenn TW, Margolis JL, Clayton Walker J, Kilbane EG, Miller CA, Martina Bebin E, Scott Perry M, Isom LL, Parent JM.
    Brain; 2020 Oct 01; 143(10):3025-3040. PubMed ID: 32968789
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  • 5. Pharmacotherapy and electroencephalographic evolution in SCN8A encephalopathy: A case report.
    Liao YF, Liao CH, Chu YJ, Fan PC.
    J Formos Med Assoc; 2019 Aug 01; 118(8):1266-1267. PubMed ID: 31010614
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  • 6. SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
    Kong W, Zhang Y, Gao Y, Liu X, Gao K, Xie H, Wang J, Wu Y, Zhang Y, Wu X, Jiang Y.
    Epilepsia; 2015 Mar 01; 56(3):431-8. PubMed ID: 25785782
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  • 7. Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.
    Denis J, Villeneuve N, Cacciagli P, Mignon-Ravix C, Lacoste C, Lefranc J, Napuri S, Damaj L, Villega F, Pedespan JM, Moutton S, Mignot C, Doummar D, Lion-François L, Gataullina S, Dulac O, Martin M, Gueden S, Lesca G, Julia S, Cances C, Journel H, Altuzarra C, Ben Zeev B, Afenjar A, Barth M, Villard L, Milh M.
    Epilepsia; 2019 May 01; 60(5):845-856. PubMed ID: 31026061
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  • 8. NBI-921352, a first-in-class, NaV1.6 selective, sodium channel inhibitor that prevents seizures in Scn8a gain-of-function mice, and wild-type mice and rats.
    Johnson JP, Focken T, Khakh K, Tari PK, Dube C, Goodchild SJ, Andrez JC, Bankar G, Bogucki D, Burford K, Chang E, Chowdhury S, Dean R, de Boer G, Decker S, Dehnhardt C, Feng M, Gong W, Grimwood M, Hasan A, Hussainkhel A, Jia Q, Lee S, Li J, Lin S, Lindgren A, Lofstrand V, Mezeyova J, Namdari R, Nelkenbrecher K, Shuart NG, Sojo L, Sun S, Taron M, Waldbrook M, Weeratunge D, Wesolowski S, Williams A, Wilson M, Xie Z, Yoo R, Young C, Zenova A, Zhang W, Cutts AJ, Sherrington RP, Pimstone SN, Winquist R, Cohen CJ, Empfield JR.
    Elife; 2022 Mar 02; 11():. PubMed ID: 35234610
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  • 10. Genetic and clinical features of SCN8A developmental and epileptic encephalopathy.
    Kim HJ, Yang D, Kim SH, Kim B, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC.
    Epilepsy Res; 2019 Dec 02; 158():106222. PubMed ID: 31675620
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  • 13. Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy.
    Ottolini M, Barker BS, Gaykema RP, Meisler MH, Patel MK.
    J Neurosci; 2017 Aug 09; 37(32):7643-7655. PubMed ID: 28676574
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  • 14. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
    Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jansen A, Scalais E, Srivastava S, Tan WH, Olson HE, Loddenkemper T, Poduri A, Helbig KL, Helbig I, Fitzgerald MP, Goldberg EM, Roser T, Borggraefe I, Brünger T, May P, Lal D, Lederer D, Rubboli G, Heyne HO, Lesca G, Hedrich UBS, Benda J, Gardella E, Lerche H, Møller RS.
    Brain; 2022 Sep 14; 145(9):2991-3009. PubMed ID: 34431999
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  • 15. Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
    Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H.
    Epilepsia; 2014 Jul 14; 55(7):994-1000. PubMed ID: 24888894
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  • 18. A multi-disciplinary clinic for SCN8A-related epilepsy.
    Schreiber JM, Tochen L, Brown M, Evans S, Ball LJ, Bumbut A, Thewamit R, Whitehead MT, Black C, Boutzoukas E, Fanto E, Suslovic W, Berl M, Hammer M, Gaillard WD.
    Epilepsy Res; 2020 Jan 14; 159():106261. PubMed ID: 31887642
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  • 19. Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.
    Gardella E, Møller RS.
    Epilepsia; 2019 Dec 14; 60 Suppl 3():S77-S85. PubMed ID: 31904124
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