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Journal Abstract Search

422 related items for PubMed ID: 12566275

  • 1. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
    Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, Hara K, Morikawa T, Yagi K, Yamakawa K, Inoue Y.
    Brain; 2003 Mar; 126(Pt 3):531-46. PubMed ID: 12566275
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  • 3. Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.
    Rhodes TH, Vanoye CG, Ohmori I, Ogiwara I, Yamakawa K, George AL.
    J Physiol; 2005 Dec 01; 569(Pt 2):433-45. PubMed ID: 16210358
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  • 4. 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 01; 48(9):1678-1685. PubMed ID: 17561957
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  • 7. 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 01; 30(4):236-43. PubMed ID: 15087100
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  • 9. [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 01; 46(10):769-73. PubMed ID: 19099883
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  • 10. Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.
    Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE.
    Neurology; 2003 Sep 23; 61(6):765-9. PubMed ID: 14504318
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  • 12. Clinical spectrum of SCN1A mutations.
    Gambardella A, Marini C.
    Epilepsia; 2009 May 23; 50 Suppl 5():20-3. PubMed ID: 19469841
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  • 13. Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.
    Sugawara T, Tsurubuchi Y, Fujiwara T, Mazaki-Miyazaki E, Nagata K, Montal M, Inoue Y, Yamakawa K.
    Epilepsy Res; 2003 May 23; 54(2-3):201-7. PubMed ID: 12837571
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  • 14. Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A.
    Ito M, Nagafuji H, Okazawa H, Yamakawa K, Sugawara T, Mazaki-Miyazaki E, Hirose S, Fukuma G, Mitsudome A, Wada K, Kaneko S.
    Epilepsy Res; 2002 Jan 23; 48(1-2):15-23. PubMed ID: 11823106
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  • 15. 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 23; 36(3):210-3. PubMed ID: 15944908
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  • 17. [Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus].
    Xu XJ, Zhang YH, Sun HH, Liu XY, Wu HS, Wu XR.
    Zhonghua Er Ke Za Zhi; 2012 Aug 23; 50(8):580-6. PubMed ID: 23158734
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  • 18. 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 23; 31(2):179-82. PubMed ID: 18632234
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  • 19. 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 23; 21(6):615-21. PubMed ID: 12754708
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  • 20. 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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