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PUBMED FOR HANDHELDS

Journal Abstract Search


229 related items for PubMed ID: 14738421

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  • 4. Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy.
    Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, Ogawa A, Yasumoto S, Oguni H, Kure S, Fujii T, Ito M, Okuno T, Shirasaka Y, Natsume J, Hasegawa A, Konagaya A, Kaneko S, Hirose S.
    Epilepsia; 2008 Sep; 49(9):1528-34. PubMed ID: 18479393
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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; 27(6):424-30. PubMed ID: 16122630
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  • 7. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.
    Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, Inoue Y, Yamakawa K.
    Neurology; 2002 Apr 09; 58(7):1122-4. PubMed ID: 11940708
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  • 11. 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 09; 68(6):1327-32. PubMed ID: 11359211
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  • 12. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.
    Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K.
    Biochem Biophys Res Commun; 2002 Jul 05; 295(1):17-23. PubMed ID: 12083760
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  • 15. Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
    Wang JW, Shi XY, Kurahashi H, Hwang SK, Ishii A, Higurashi N, Kaneko S, Hirose S, Epilepsy Genetic Study Group Japan.
    Epilepsy Res; 2012 Dec 05; 102(3):195-200. PubMed ID: 23195492
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  • 18. Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: a case report.
    Stefanaki E, Aggelakou V, Orfanou M, Kokori E, Boutoufianakis S.
    Acta Paediatr; 2006 Dec 05; 95(12):1703-6. PubMed ID: 17129991
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  • 19. 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 05; 65(4):489-94. PubMed ID: 18413471
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  • 20. 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 05; 126(Pt 3):531-46. PubMed ID: 12566275
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