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853 related items for PubMed ID: 19099883

  • 1. [Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy].
    Zhang YH, Sun HH, Liu XY, Ma XW, Yang ZX, Xiong H, Qin J, Lin Q, Wu XR.
    Zhonghua Er Ke Za Zhi; 2008 Oct; 46(10):769-73. PubMed ID: 19099883
    [Abstract] [Full Text] [Related]

  • 2. [Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases].
    Siegler Z, Neuwirth M, Hegyi M, Paraicz E, Pálmafy B, Tegzes A, Barsi P, Karcagi V, Claes L, De Jonghe P, Herczegfalvi A, Fogarasi A.
    Ideggyogy Sz; 2008 Nov 30; 61(11-12):402-8. PubMed ID: 19070316
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  • 3. Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
    Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R.
    Epilepsia; 2007 Sep 30; 48(9):1678-1685. PubMed ID: 17561957
    [Abstract] [Full Text] [Related]

  • 4. A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.
    Kimura K, Sugawara T, Mazaki-Miyazaki E, Hoshino K, Nomura Y, Tateno A, Hachimori K, Yamakawa K, Segawa M.
    Brain Dev; 2005 Sep 30; 27(6):424-30. PubMed ID: 16122630
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  • 7. Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.
    Kim YO, Bellows S, McMahon JM, Iona X, Damiano J, Dibbens L, Kelley K, Gill D, Cross JH, Berkovic SF, Scheffer IE.
    Dev Med Child Neurol; 2014 Jan 30; 56(1):85-90. PubMed ID: 24328833
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  • 10. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies.
    Fujiwara T.
    Epilepsy Res; 2006 Aug 30; 70 Suppl 1():S223-30. PubMed ID: 16806826
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  • 12. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
    Claes L, Ceulemans B, Audenaert D, Smets K, Löfgren A, Del-Favero J, Ala-Mello S, Basel-Vanagaite L, Plecko B, Raskin S, Thiry P, Wolf NI, Van Broeckhoven C, De Jonghe P.
    Hum Mutat; 2003 Jun 30; 21(6):615-21. PubMed ID: 12754708
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  • 13. Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?
    Lim BC, Hwang H, Kim H, Chae JH, Choi J, Kim KJ, Hwang YS, Yum MS, Ko TS.
    Epilepsy Res; 2015 Jan 30; 109():34-9. PubMed ID: 25524840
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  • 14. Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy.
    Sakakibara T, Nakagawa E, Saito Y, Sakuma H, Komaki H, Sugai K, Sasaki M, Kurahashi H, Hirose S.
    Epilepsia; 2009 Sep 30; 50(9):2158-62. PubMed ID: 19563349
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  • 15. Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients.
    Ragona F, Brazzo D, De Giorgi I, Morbi M, Freri E, Teutonico F, Gennaro E, Zara F, Binelli S, Veggiotti P, Granata T.
    Brain Dev; 2010 Jan 30; 32(1):71-7. PubMed ID: 19854600
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  • 16. The core Dravet syndrome phenotype.
    Dravet C.
    Epilepsia; 2011 Apr 30; 52 Suppl 2():3-9. PubMed ID: 21463272
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  • 17. Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.
    Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Wada K, Iwasa H, Yasumoto S, Matsuo M, Ito M, Mitsudome A, Kaneko S.
    Neurology; 2004 Jul 27; 63(2):329-34. PubMed ID: 15277629
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  • 18. SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.
    Ebach K, Joos H, Doose H, Stephani U, Kurlemann G, Fiedler B, Hahn A, Hauser E, Hundt K, Holthausen H, Müller U, Neubauer BA.
    Neuropediatrics; 2005 Jun 27; 36(3):210-3. PubMed ID: 15944908
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  • 19. The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.
    Martin MS, Tang B, Papale LA, Yu FH, Catterall WA, Escayg A.
    Hum Mol Genet; 2007 Dec 01; 16(23):2892-9. PubMed ID: 17881658
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  • 20. Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study.
    McIntosh AM, McMahon J, Dibbens LM, Iona X, Mulley JC, Scheffer IE, Berkovic SF.
    Lancet Neurol; 2010 Jun 01; 9(6):592-8. PubMed ID: 20447868
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