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Journal Abstract Search

393 related items for PubMed ID: 15277629

  • 1.
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  • 2. 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; 48(9):1678-1685. PubMed ID: 17561957
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  • 4. Clinical spectrum of SCN1A mutations.
    Gambardella A, Marini C.
    Epilepsia; 2009 May; 50 Suppl 5():20-3. PubMed ID: 19469841
    [Abstract] [Full Text] [Related]

  • 5. 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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  • 6. 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 01; 27(6):424-30. PubMed ID: 16122630
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  • 7. 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 01; 65(4):489-94. PubMed ID: 18413471
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  • 8. Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.
    Lossin C, Rhodes TH, Desai RR, Vanoye CG, Wang D, Carniciu S, Devinsky O, George AL.
    J Neurosci; 2003 Dec 10; 23(36):11289-95. PubMed ID: 14672992
    [Abstract] [Full Text] [Related]

  • 9. Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.
    Liao WP, Shi YW, Long YS, Zeng Y, Li T, Yu MJ, Su T, Deng P, Lei ZG, Xu SJ, Deng WY, Liu XR, Sun WW, Yi YH, Xu ZC, Duan S.
    Epilepsia; 2010 Sep 10; 51(9):1669-78. PubMed ID: 20550552
    [Abstract] [Full Text] [Related]

  • 10. 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 10; 30(4):236-43. PubMed ID: 15087100
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  • 11. [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 10; 50(8):580-6. PubMed ID: 23158734
    [Abstract] [Full Text] [Related]

  • 12. 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 10; 31(2):179-82. PubMed ID: 18632234
    [Abstract] [Full Text] [Related]

  • 13. Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).
    Fukuma G, Oguni H, Shirasaka Y, Watanabe K, Miyajima T, Yasumoto S, Ohfu M, Inoue T, Watanachai A, Kira R, Matsuo M, Muranaka H, Sofue F, Zhang B, Kaneko S, Mitsudome A, Hirose S.
    Epilepsia; 2004 Feb 10; 45(2):140-8. PubMed ID: 14738421
    [Abstract] [Full Text] [Related]

  • 14. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
    Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P.
    Am J Hum Genet; 2001 Jun 10; 68(6):1327-32. PubMed ID: 11359211
    [Abstract] [Full Text] [Related]

  • 15. 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 10; 126(Pt 3):531-46. PubMed ID: 12566275
    [Abstract] [Full Text] [Related]

  • 16. Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.
    Nabbout R, Kozlovski A, Gennaro E, Bahi-Buisson N, Zara F, Chiron C, Bianchi A, Brice A, Leguern E, Dulac O.
    Epilepsy Res; 2003 Oct 10; 56(2-3):127-33. PubMed ID: 14642997
    [Abstract] [Full Text] [Related]

  • 17. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
    Scheffer IE, Zhang YH, Jansen FE, Dibbens L.
    Brain Dev; 2009 May 10; 31(5):394-400. PubMed ID: 19203856
    [Abstract] [Full Text] [Related]

  • 18. 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 10; 90(1-2):132-9. PubMed ID: 20452746
    [Abstract] [Full Text] [Related]

  • 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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