These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 17049193)

  • 1. Seizures and electroencephalographic findings in CDKL5 mutations: case report and review.
    Grosso S; Brogna A; Bazzotti S; Renieri A; Morgese G; Balestri P
    Brain Dev; 2007 May; 29(4):239-42. PubMed ID: 17049193
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Key clinical features to identify girls with CDKL5 mutations.
    Bahi-Buisson N; Nectoux J; Rosas-Vargas H; Milh M; Boddaert N; Girard B; Cances C; Ville D; Afenjar A; Rio M; Héron D; N'guyen Morel MA; Arzimanoglou A; Philippe C; Jonveaux P; Chelly J; Bienvenu T
    Brain; 2008 Oct; 131(Pt 10):2647-61. PubMed ID: 18790821
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 87(1):25-30. PubMed ID: 19734009
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 67(9):757-61. PubMed ID: 21387820
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Myoclonic encephalopathy in the CDKL5 gene mutation.
    Buoni S; Zannolli R; Colamaria V; Macucci F; di Bartolo RM; Corbini L; Orsi A; Zappella M; Hayek J
    Clin Neurophysiol; 2006 Jan; 117(1):223-7. PubMed ID: 16326141
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The three stages of epilepsy in patients with CDKL5 mutations.
    Bahi-Buisson N; Kaminska A; Boddaert N; Rio M; Afenjar A; Gérard M; Giuliano F; Motte J; Héron D; Morel MA; Plouin P; Richelme C; des Portes V; Dulac O; Philippe C; Chiron C; Nabbout R; Bienvenu T
    Epilepsia; 2008 Jun; 49(6):1027-37. PubMed ID: 18266744
    [TBL] [Abstract][Full Text] [Related]  

  • 10. CDKL5 alterations lead to early epileptic encephalopathy in both genders.
    Liang JS; Shimojima K; Takayama R; Natsume J; Shichiji M; Hirasawa K; Imai K; Okanishi T; Mizuno S; Okumura A; Sugawara M; Ito T; Ikeda H; Takahashi Y; Oguni H; Imai K; Osawa M; Yamamoto T
    Epilepsia; 2011 Oct; 52(10):1835-42. PubMed ID: 21770923
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Early onset seizures and Rett-like features associated with mutations in CDKL5.
    Evans JC; Archer HL; Colley JP; Ravn K; Nielsen JB; Kerr A; Williams E; Christodoulou J; Gécz J; Jardine PE; Wright MJ; Pilz DT; Lazarou L; Cooper DN; Sampson JR; Butler R; Whatley SD; Clarke AJ
    Eur J Hum Genet; 2005 Oct; 13(10):1113-20. PubMed ID: 16015284
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature.
    Pintaudi M; Baglietto MG; Gaggero R; Parodi E; Pessagno A; Marchi M; Russo S; Veneselli E
    Epilepsy Behav; 2008 Feb; 12(2):326-31. PubMed ID: 18063413
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.
    Nectoux J; Heron D; Tallot M; Chelly J; Bienvenu T
    Clin Genet; 2006 Jul; 70(1):29-33. PubMed ID: 16813600
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 71(13):997-9. PubMed ID: 18809835
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 43(9):729-34. PubMed ID: 16611748
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations.
    Moseley BD; Dhamija R; Wirrell EC; Nickels KC
    Pediatr Neurol; 2012 Feb; 46(2):101-5. PubMed ID: 22264704
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.
    Intusoma U; Hayeeduereh F; Plong-On O; Sripo T; Vasiknanonte P; Janjindamai S; Lusawat A; Thammongkol S; Visudtibhan A; Limprasert P
    Eur J Paediatr Neurol; 2011 Sep; 15(5):432-8. PubMed ID: 21775177
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 14(2):188-91. PubMed ID: 19428276
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.
    Das DK; Mehta B; Menon SR; Raha S; Udani V
    Neuromolecular Med; 2013 Mar; 15(1):218-25. PubMed ID: 23242510
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.