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 *

254 related articles for article (PubMed ID: 20493745)

  • 1. Epilepsy caused by CDKL5 mutations.
    Castrén M; Gaily E; Tengström C; Lähdetie J; Archer H; Ala-Mello S
    Eur J Paediatr Neurol; 2011 Jan; 15(1):65-9. PubMed ID: 20493745
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5.
    Saitsu H; Osaka H; Nishiyama K; Tsurusaki Y; Doi H; Miyake N; Matsumoto N
    Brain Dev; 2012 May; 34(5):364-7. PubMed ID: 21802232
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
    Fichou Y; Bieth E; Bahi-Buisson N; Nectoux J; Girard B; Chelly J; Chaix Y; Bienvenu T
    Neurology; 2009 Jul; 73(1):77-8; author reply 78. PubMed ID: 19564592
    [No Abstract]   [Full Text] [Related]  

  • 13. Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
    Hadzsiev K; Polgar N; Bene J; Komlosi K; Karteszi J; Hollody K; Kosztolanyi G; Renieri A; Melegh B
    J Hum Genet; 2011 Mar; 56(3):183-7. PubMed ID: 21160487
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [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]  

  • 15. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
    Zweier M; Gregor A; Zweier C; Engels H; Sticht H; Wohlleber E; Bijlsma EK; Holder SE; Zenker M; Rossier E; Grasshoff U; Johnson DS; Robertson L; Firth HV; ; Ekici AB; Reis A; Rauch A
    Hum Mutat; 2010 Jun; 31(6):722-33. PubMed ID: 20513142
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
    Mei D; Darra F; Barba C; Marini C; Fontana E; Chiti L; Parrini E; Dalla Bernardina B; Guerrini R
    Epilepsia; 2014 Nov; 55(11):1748-53. PubMed ID: 25266480
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 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. CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.
    Maortua H; Martínez-Bouzas C; Calvo MT; Domingo MR; Ramos F; García-Ribes A; Martínez MJ; López-Aríztegui MA; Puente N; Rubio I; Tejada MI
    BMC Med Genet; 2012 Aug; 13():68. PubMed ID: 22867051
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.