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Journal Abstract Search

736 related items for PubMed ID: 18632234

  • 1. 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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  • 2. 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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  • 3. 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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  • 4. 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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  • 7. [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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  • 8. Clinical spectrum of SCN1A mutations.
    Gambardella A, Marini C.
    Epilepsia; 2009 May 30; 50 Suppl 5():20-3. PubMed ID: 19469841
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  • 12. 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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  • 16. Focal epilepsy resulting from a de novo SCN1A mutation.
    Okumura A, Kurahashi H, Hirose S, Okawa N, Watanabe K.
    Neuropediatrics; 2007 Oct 30; 38(5):253-6. PubMed ID: 18330841
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  • 17. A novel de novo SCN1A missense mutation in Severe Myoclonic Epilepsy Borderland.
    Specchio N, Trivisano M, Balestri M, Gennaro E, Specchio LM, Fusco L, Zara F, Vigevano F.
    Acta Neurol Belg; 2010 Sep 30; 110(3):281-3. PubMed ID: 21114141
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  • 18. One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene.
    Yordanova I, Todorov T, Dimova P, Hristova D, Tincheva R, Litvinenko I, Yotovska O, Kremensky I, Todorova A.
    Neurosci Lett; 2011 Apr 25; 494(2):180-3. PubMed ID: 21396429
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  • 19. Novel de novo mutation of a conserved SCN1A amino-acid residue (R1596).
    Dlugos DJ, Ferraro TN, Buono RJ.
    Pediatr Neurol; 2007 Oct 25; 37(4):303-5. PubMed ID: 17903680
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