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PUBMED FOR HANDHELDS

Journal Abstract Search


172 related items for PubMed ID: 17049193

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  • 4. CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.
    Melani F, Mei D, Pisano T, Savasta S, Franzoni E, Ferrari AR, Marini C, Guerrini R.
    Dev Med Child Neurol; 2011 Apr; 53(4):354-60. PubMed ID: 21309761
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  • 5. Clinical phenotype of 5 females with a CDKL5 mutation.
    Stalpers XL, Spruijt L, Yntema HG, Verrips A.
    J Child Neurol; 2012 Jan; 27(1):90-3. PubMed ID: 21765152
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  • 6. [Clinical usefulness of serial EEG examinations in the diagnostic of hereditary epileptic encephalopathies case of severe epileptic encephalopathy type 2].
    Terczyńska I, Mierzewska H, Szczepanik E, Antczak-Marach D.
    Przegl Lek; 2010 Jan; 67(9):757-61. PubMed ID: 21387820
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  • 7. Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
    Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C.
    Clin Genet; 2009 Oct; 76(4):357-71. PubMed ID: 19793311
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  • 13. Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.
    Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'Guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T.
    J Med Genet; 2008 Mar; 45(3):172-8. PubMed ID: 17993579
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  • 15. CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
    Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M.
    Neurology; 2008 Sep 23; 71(13):997-9. PubMed ID: 18809835
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  • 16. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
    Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.
    J Med Genet; 2006 Sep 23; 43(9):729-34. PubMed ID: 16611748
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  • 19. A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.
    Psoni S, Willems PJ, Kanavakis E, Mavrou A, Frissyra H, Traeger-Synodinos J, Sofokleous C, Makrythanassis P, Kitsiou-Tzeli S.
    Eur J Paediatr Neurol; 2010 Mar 23; 14(2):188-91. PubMed ID: 19428276
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