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Journal Abstract Search

472 related items for PubMed ID: 31625145

  • 1. Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy.
    Wengert ER, Tronhjem CE, Wagnon JL, Johannesen KM, Petit H, Krey I, Saga AU, Panchal PS, Strohm SM, Lange J, Kamphausen SB, Rubboli G, Lemke JR, Gardella E, Patel MK, Meisler MH, Møller RS.
    Epilepsia; 2019 Nov; 60(11):2277-2285. PubMed ID: 31625145
    [Abstract] [Full Text] [Related]

  • 2. Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.
    Gardella E, Møller RS.
    Epilepsia; 2019 Dec; 60 Suppl 3():S77-S85. PubMed ID: 31904124
    [Abstract] [Full Text] [Related]

  • 3. Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.
    Wagnon JL, Mencacci NE, Barker BS, Wengert ER, Bhatia KP, Balint B, Carecchio M, Wood NW, Patel MK, Meisler MH.
    Hum Mutat; 2018 Jul; 39(7):965-969. PubMed ID: 29726066
    [Abstract] [Full Text] [Related]

  • 4. De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.
    Stringer RN, Jurkovicova-Tarabova B, Souza IA, Ibrahim J, Vacik T, Fathalla WM, Hertecant J, Zamponi GW, Lacinova L, Weiss N.
    Mol Brain; 2021 Aug 16; 14(1):126. PubMed ID: 34399820
    [Abstract] [Full Text] [Related]

  • 5. De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.
    Butler KM, da Silva C, Shafir Y, Weisfeld-Adams JD, Alexander JJ, Hegde M, Escayg A.
    Epilepsy Res; 2017 Jan 16; 129():17-25. PubMed ID: 27875746
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

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  • 8. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
    Blanchard MG, Willemsen MH, Walker JB, Dib-Hajj SD, Waxman SG, Jongmans MC, Kleefstra T, van de Warrenburg BP, Praamstra P, Nicolai J, Yntema HG, Bindels RJ, Meisler MH, Kamsteeg EJ.
    J Med Genet; 2015 May 14; 52(5):330-7. PubMed ID: 25725044
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  • 10. 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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  • 12. 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. Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
    Hebbar M, Al-Taweel N, Gill I, Boelman C, Dean RA, Goodchild SJ, Mezeyova J, Shuart NG, Johnson JP, Lee J, Michoulas A, Huh LL, Armstrong L, Connolly MB, Demos MK.
    BMC Neurol; 2024 Jan 17; 24(1):31. PubMed ID: 38233770
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  • 17. The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy.
    Baker EM, Thompson CH, Hawkins NA, Wagnon JL, Wengert ER, Patel MK, George AL, Meisler MH, Kearney JA.
    Epilepsia; 2018 Jun 17; 59(6):1166-1176. PubMed ID: 29782051
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  • 19. SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.
    Wang J, Gao H, Bao X, Zhang Q, Li J, Wei L, Wu X, Chen Y, Yu S.
    BMC Med Genet; 2017 Sep 18; 18(1):104. PubMed ID: 28923014
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