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1397 related items for PubMed ID: 28379373

  • 1. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
    Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS.
    Brain; 2017 May 01; 140(5):1316-1336. PubMed ID: 28379373
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  • 2. Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.
    Wolff M, Brunklaus A, Zuberi SM.
    Epilepsia; 2019 Dec 01; 60 Suppl 3():S59-S67. PubMed ID: 31904126
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  • 3. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
    Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, Schorge S, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, Zuberi SM, Sanders S, Sheidley BR, Craiu D, Olson HE, Weckhuysen S, DeJonge P, Helbig I, Van Esch H, Busa T, Milh M, Isidor B, Depienne C, Poduri A, Campbell AJ, Dimidschstein J, Møller RS, Lal D.
    Epilepsia; 2020 Mar 01; 61(3):387-399. PubMed ID: 32090326
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  • 4. The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.
    Kim HJ, Yang D, Kim SH, Kim B, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC.
    Epileptic Disord; 2020 Oct 01; 22(5):563-570. PubMed ID: 33000761
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  • 6. Ketogenic diet as a successful early treatment modality for SCN2A mutation.
    Turkdogan D, Thomas G, Demirel B.
    Brain Dev; 2019 Apr 01; 41(4):389-391. PubMed ID: 30415926
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  • 7. [Phenotype study of SCN2A gene related epilepsy].
    Zeng Q, Zhang YH, Yang XL, Zhang J, Liu AJ, Liu XY, Jiang YW, Wu XR.
    Zhonghua Er Ke Za Zhi; 2018 Jul 02; 56(7):518-523. PubMed ID: 29996185
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  • 8. 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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  • 10. Neonatal SCN2A encephalopathy: A peculiar recognizable electroclinical sequence.
    Melikishvili G, Dulac O, Gataullina S.
    Epilepsy Behav; 2020 Oct 14; 111():107187. PubMed ID: 32603808
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  • 18. Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy.
    Miao P, Tang S, Ye J, Wang J, Lou Y, Zhang B, Xu X, Chen X, Li Y, Feng J.
    Mol Genet Genomic Med; 2020 Jul 14; 8(7):e1250. PubMed ID: 32400968
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  • 19. Cacna1g is a genetic modifier of epilepsy caused by mutation of voltage-gated sodium channel Scn2a.
    Calhoun JD, Hawkins NA, Zachwieja NJ, Kearney JA.
    Epilepsia; 2016 Jun 14; 57(6):e103-7. PubMed ID: 27112236
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  • 20. De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
    Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K.
    Neurology; 2009 Sep 29; 73(13):1046-53. PubMed ID: 19786696
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