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Journal Abstract Search

634 related items for PubMed ID: 15944908

  • 1. 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; 36(3):210-3. PubMed ID: 15944908
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  • 3. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.
    Ceulemans BP, Claes LR, Lagae LG.
    Pediatr Neurol; 2004 Apr; 30(4):236-43. PubMed ID: 15087100
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  • 5. Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
    Zucca C, Redaelli F, Epifanio R, Zanotta N, Romeo A, Lodi M, Veggiotti P, Airoldi G, Panzeri C, Romaniello R, De Polo G, Bonanni P, Cardinali S, Baschirotto C, Martorell L, Borgatti R, Bresolin N, Bassi MT.
    Arch Neurol; 2008 Apr; 65(4):489-94. PubMed ID: 18413471
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  • 9. Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients.
    Herini ES, Gunadi, Harahap IS, Yusoff S, Morikawa S, Patria SY, Nishimura N, Sunartini, Sutaryo, Takada S, Matsuo M, Nishio H.
    Epilepsy Res; 2010 Jun; 90(1-2):132-9. PubMed ID: 20452746
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  • 11. Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.
    Kearney JA, Wiste AK, Stephani U, Trudeau MM, Siegel A, RamachandranNair R, Elterman RD, Muhle H, Reinsdorf J, Shields WD, Meisler MH, Escayg A.
    Pediatr Neurol; 2006 Feb; 34(2):116-20. PubMed ID: 16458823
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  • 12. 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; 27(6):424-30. PubMed ID: 16122630
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  • 13. Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.
    Dimova PS, Yordanova I, Bojinova V, Jordanova A, Kremenski I.
    Pediatr Neurol; 2010 Feb; 42(2):137-40. PubMed ID: 20117752
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  • 14. Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus.
    Kumakura A, Ito M, Hata D, Oh N, Kurahashi H, Wang JW, Hirose S.
    Brain Dev; 2009 Feb; 31(2):179-82. PubMed ID: 18632234
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  • 15. 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; 21(6):615-21. PubMed ID: 12754708
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  • 16. [Severe myoclonic epilepsy in infancy (Dravet's syndrome). Some genetic aspects].
    Herranz JL.
    Rev Neurol; 2003 Jun; 37(1):60-3. PubMed ID: 12861511
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  • 17. [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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  • 18. Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.
    Gennaro E, Veggiotti P, Malacarne M, Madia F, Cecconi M, Cardinali S, Cassetti A, Cecconi I, Bertini E, Bianchi A, Gobbi G, Zara F.
    Epileptic Disord; 2003 Mar 30; 5(1):21-5. PubMed ID: 12773292
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  • 19. Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI).
    Arlier Z, Bayri Y, Kolb LE, Erturk O, Ozturk AK, Bayrakli F, Bilguvar K, Moliterno JA, Dervent A, Demirbilek V, Yalcinkaya C, Korkmaz B, Tuysuz B, Gunel M.
    J Child Neurol; 2010 Oct 30; 25(10):1265-8. PubMed ID: 20110217
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  • 20. Novel de novo mutation of a conserved SCN1A amino-acid residue (R1596).
    Dlugos DJ, Ferraro TN, Buono RJ.
    Pediatr Neurol; 2007 Oct 30; 37(4):303-5. PubMed ID: 17903680
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