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Journal Abstract Search


252 related items for PubMed ID: 31715021

  • 1. Distinct functional alterations in SCN8A epilepsy mutant channels.
    Pan Y, Cummins TR.
    J Physiol; 2020 Jan; 598(2):381-401. PubMed ID: 31715021
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  • 2. 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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  • 6. SCN8A epileptic encephalopathy mutations display a gain-of-function phenotype and divergent sensitivity to antiepileptic drugs.
    Guo QB, Zhan L, Xu HY, Gao ZB, Zheng YM.
    Acta Pharmacol Sin; 2022 Dec 09; 43(12):3139-3148. PubMed ID: 35902765
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  • 7. 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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  • 8. Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol.
    Patel RR, Barbosa C, Brustovetsky T, Brustovetsky N, Cummins TR.
    Brain; 2016 Aug 02; 139(Pt 8):2164-81. PubMed ID: 27267376
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  • 9. A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
    Estacion M, O'Brien JE, Conravey A, Hammer MF, Waxman SG, Dib-Hajj SD, Meisler MH.
    Neurobiol Dis; 2014 Sep 02; 69():117-23. PubMed ID: 24874546
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  • 11. R1617Q epilepsy mutation slows NaV 1.6 sodium channel inactivation and increases the persistent current and neuronal firing.
    Poulin H, Chahine M.
    J Physiol; 2021 Mar 02; 599(5):1651-1664. PubMed ID: 33442870
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  • 13. 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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  • 14. Somatostatin-Positive Interneurons Contribute to Seizures in SCN8A Epileptic Encephalopathy.
    Wengert ER, Miralles RM, Wedgwood KCA, Wagley PK, Strohm SM, Panchal PS, Idrissi AM, Wenker IC, Thompson JA, Gaykema RP, Patel MK.
    J Neurosci; 2021 Nov 03; 41(44):9257-9273. PubMed ID: 34544834
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  • 15. Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy.
    Quinn S, Zhang N, Fenton TA, Brusel M, Muruganandam P, Peleg Y, Giladi M, Haitin Y, Lerche H, Bassan H, Liu Y, Ben-Shalom R, Rubinstein M.
    Biochim Biophys Acta Mol Basis Dis; 2024 Jun 03; 1870(5):167127. PubMed ID: 38519006
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  • 16. 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 03; 52(5):330-7. PubMed ID: 25725044
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  • 17. Astrocyte reactivity in a mouse model of SCN8A epileptic encephalopathy.
    Thompson JA, Miralles RM, Wengert ER, Wagley PK, Yu W, Wenker IC, Patel MK.
    Epilepsia Open; 2022 Jun 03; 7(2):280-292. PubMed ID: 34826216
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  • 18. SCN8A encephalopathy: Mechanisms and models.
    Meisler MH.
    Epilepsia; 2019 Dec 03; 60 Suppl 3(Suppl 3):S86-S91. PubMed ID: 31904118
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  • 19. A comprehensive approach to identifying repurposed drugs to treat SCN8A epilepsy.
    Atkin TA, Maher CM, Gerlach AC, Gay BC, Antonio BM, Santos SC, Padilla KM, Rader J, Krafte DS, Fox MA, Stewart GR, Petrovski S, Devinsky O, Might M, Petrou S, Goldstein DB.
    Epilepsia; 2018 Apr 03; 59(4):802-813. PubMed ID: 29574705
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  • 20. SCN8A Epilepsy, Developmental Encephalopathy, and Related Disorders.
    Talwar D, Hammer MF.
    Pediatr Neurol; 2021 Sep 03; 122():76-83. PubMed ID: 34353676
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