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Journal Abstract Search

1324 related items for PubMed ID: 16806826

  • 21. [Molecular genetics of epilepsy].
    Yamakawa K.
    Rinsho Shinkeigaku; 2004 Nov; 44(11):858-60. PubMed ID: 15651314
    [Abstract] [Full Text] [Related]

  • 22. The core Dravet syndrome phenotype.
    Dravet C.
    Epilepsia; 2011 Apr; 52 Suppl 2():3-9. PubMed ID: 21463272
    [Abstract] [Full Text] [Related]

  • 23. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
    Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, Keren B, Abert B, Gautier A, Baulac S, Arzimanoglou A, Cazeneuve C, Nabbout R, LeGuern E.
    J Med Genet; 2009 Mar; 46(3):183-91. PubMed ID: 18930999
    [Abstract] [Full Text] [Related]

  • 24. The genetics of Dravet syndrome.
    Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F, Guerrini R.
    Epilepsia; 2011 Apr; 52 Suppl 2():24-9. PubMed ID: 21463275
    [Abstract] [Full Text] [Related]

  • 25. 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
    [Abstract] [Full Text] [Related]

  • 26. 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 25; 5(1):21-5. PubMed ID: 12773292
    [Abstract] [Full Text] [Related]

  • 27. Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.
    Suls A, Claeys KG, Goossens D, Harding B, Van Luijk R, Scheers S, Deprez L, Audenaert D, Van Dyck T, Beeckmans S, Smouts I, Ceulemans B, Lagae L, Buyse G, Barisic N, Misson JP, Wauters J, Del-Favero J, De Jonghe P, Claes LR.
    Hum Mutat; 2006 Sep 25; 27(9):914-20. PubMed ID: 16865694
    [Abstract] [Full Text] [Related]

  • 28. 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 25; 90(1-2):132-9. PubMed ID: 20452746
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  • 32. CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.
    Nabbout R, Depienne C, Chipaux M, Girard B, Souville I, Trouillard O, Dulac O, Chelly J, Afenjar A, Héron D, Leguern E, Beldjord C, Bienvenu T, Bahi-Buisson N.
    Epilepsy Res; 2009 Nov 25; 87(1):25-30. PubMed ID: 19734009
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  • 34. Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
    Osaka H, Ogiwara I, Mazaki E, Okamura N, Yamashita S, Iai M, Yamada M, Kurosawa K, Iwamoto H, Yasui-Furukori N, Kaneko S, Fujiwara T, Inoue Y, Yamakawa K.
    Epilepsy Res; 2007 Jun 25; 75(1):46-51. PubMed ID: 17507202
    [Abstract] [Full Text] [Related]

  • 35. A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A.
    Mulley JC, Nelson P, Guerrero S, Dibbens L, Iona X, McMahon JM, Harkin L, Schouten J, Yu S, Berkovic SF, Scheffer IE.
    Neurology; 2006 Sep 26; 67(6):1094-5. PubMed ID: 17000989
    [Abstract] [Full Text] [Related]

  • 36. Parental SCN1A mutation mosaicism in familial Dravet syndrome.
    Selmer KK, Eriksson AS, Brandal K, Egeland T, Tallaksen C, Undlien DE.
    Clin Genet; 2009 Oct 26; 76(4):398-403. PubMed ID: 19673951
    [Abstract] [Full Text] [Related]

  • 37. Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.
    Møller RS, Schneider LM, Hansen CP, Bugge M, Ullmann R, Tommerup N, Tümer Z.
    Epilepsia; 2008 Jun 26; 49(6):1091-4. PubMed ID: 18294202
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  • 39. Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy.
    Sakakibara T, Nakagawa E, Saito Y, Sakuma H, Komaki H, Sugai K, Sasaki M, Kurahashi H, Hirose S.
    Epilepsia; 2009 Sep 26; 50(9):2158-62. PubMed ID: 19563349
    [Abstract] [Full Text] [Related]

  • 40. Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy.
    Marini C, Mei D, Helen Cross J, Guerrini R.
    Epilepsia; 2006 Oct 26; 47(10):1737-40. PubMed ID: 17054697
    [Abstract] [Full Text] [Related]

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