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There are 30268 results for: content related to: Recurrent mutations in the CDKL5 gene: Genotype–phenotype relationships

  1. Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

    Clinical Genetics

    Volume 76, Issue 4, October 2009, Pages: 357–371, C Nemos, L Lambert, F Giuliano, B Doray, A Roubertie, A Goldenberg, B Delobel, V Layet, MA N’guyen, A Saunier, F Verneau, P Jonveaux and C Philippe

    Version of Record online : 24 SEP 2009, DOI: 10.1111/j.1399-0004.2009.01194.x

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    CDKL5 alterations lead to early epileptic encephalopathy in both genders

    Epilepsia

    Volume 52, Issue 10, October 2011, Pages: 1835–1842, Jao-Shwann Liang, Keiko Shimojima, Rumiko Takayama, Jun Natsume, Minobu Shichiji, Kyoko Hirasawa, Kaoru Imai, Tohru Okanishi, Seiji Mizuno, Akihisa Okumura, Midori Sugawara, Tomoshiro Ito, Hiroko Ikeda, Yukitoshi Takahashi, Hirokazu Oguni, Katsumi Imai, Makiko Osawa and Toshiyuki Yamamoto

    Version of Record online : 19 JUL 2011, DOI: 10.1111/j.1528-1167.2011.03174.x

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    Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

    Epilepsia

    Volume 51, Issue 4, April 2010, Pages: 647–654, Davide Mei, Carla Marini, Francesca Novara, Bernardo D. Bernardina, Tiziana Granata, Elena Fontana, Elena Parrini, Anna R. Ferrari, Alessandra Murgia, Orsetta Zuffardi and Renzo Guerrini

    Version of Record online : 22 SEP 2009, DOI: 10.1111/j.1528-1167.2009.02308.x

  4. Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 153B, Issue 1, January 2010, Pages: 202–207, Nadia Bahi-Buisson, Benoit Girard, Agnes Gautier, Juliette Nectoux, Yann Fichou, Yoann Saillour, Karine Poirier, Jamel Chelly and Thierry Bienvenu

    Version of Record online : 19 MAY 2009, DOI: 10.1002/ajmg.b.30974

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    CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life

    Developmental Medicine & Child Neurology

    Volume 53, Issue 4, April 2011, Pages: 354–360, FEDERICO MELANI, DAVIDE MEI, TIZIANA PISANO, SALVATORE SAVASTA, EMILIO FRANZONI, ANNA RITA FERRARI, CARLA MARINI and RENZO GUERRINI

    Version of Record online : 11 FEB 2011, DOI: 10.1111/j.1469-8749.2010.03889.x

  6. A CDKL5 mutated child with precocious puberty

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 1046–1051, Veronica Saletti, Laura Canafoglia, Paola Cambiaso, Silvia Russo, Margherita Marchi and Daria Riva

    Version of Record online : 24 APR 2009, DOI: 10.1002/ajmg.a.32806

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    MeCP2 deficiency is associated with impaired microtubule stability

    FEBS Letters

    Volume 587, Issue 2, January 16, 2013, Pages: 245–253, Chloé Delépine, Juliette Nectoux, Nadia Bahi-Buisson, Jamel Chelly and Thierry Bienvenu

    Version of Record online : 10 DEC 2012, DOI: 10.1016/j.febslet.2012.11.033

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    Optimizing the molecular diagnosis of CDKL5 gene–related epileptic encephalopathy in boys

    Epilepsia

    Volume 55, Issue 11, November 2014, Pages: 1748–1753, Davide Mei, Francesca Darra, Carmen Barba, Carla Marini, Elena Fontana, Laura Chiti, Elena Parrini, Bernardo Dalla Bernardina and Renzo Guerrini

    Version of Record online : 29 SEP 2014, DOI: 10.1111/epi.12803

  9. A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 4, April 2009, Pages: 722–725, T. Sprovieri, F.L. Conforti, A. Fiumara, R. Mazzei, C. Ungaro, L. Citrigno, M. Muglia, A. Arena and A. Quattrone

    Version of Record online : 27 FEB 2009, DOI: 10.1002/ajmg.a.32711

  10. The neuropathological consequences of CDKL5 mutation

    Neuropathology and Applied Neurobiology

    Volume 38, Issue 7, December 2012, Pages: 744–747, S. M. L. Paine, P. Munot, J. Carmichael, K. Das, M. A. Weber, P. Prabhakar and T. S. Jacques

    Version of Record online : 14 NOV 2012, DOI: 10.1111/j.1365-2990.2012.01292.x

  11. Functional abilities in children and adults with the CDKL5 disorder

    American Journal of Medical Genetics Part A

    Stephanie Fehr, Jenny Downs, Gladys Ho, Nick de Klerk, David Forbes, John Christodoulou, Simon Williams and Helen Leonard

    Version of Record online : 16 AUG 2016, DOI: 10.1002/ajmg.a.37851

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    Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene–related encephalopathies

    Epilepsia

    Volume 53, Issue 12, December 2012, Pages: 2067–2078, Renzo Guerrini and Elena Parrini

    Version of Record online : 21 SEP 2012, DOI: 10.1111/j.1528-1167.2012.03656.x

  13. A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 2, February 2009, Pages: 232–236, Stefano Sartori, Gabriella Di Rosa, Roberta Polli, Elisa Bettella, Giovanni Tricomi, Gaetano Tortorella and Alessandra Murgia

    Version of Record online : 22 JAN 2009, DOI: 10.1002/ajmg.a.32606

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    The three stages of epilepsy in patients with CDKL5 mutations

    Epilepsia

    Volume 49, Issue 6, June 2008, Pages: 1027–1037, Nadia Bahi-Buisson, Anna Kaminska, Nathalie Boddaert, Marlène Rio, Alexandra Afenjar, Marion Gérard, Fabienne Giuliano, Jacques Motte, Delphine Héron, Marie Ange N'Guyen Morel, Perrine Plouin, Christian Richelme, Vincent Des Portes, Olivier Dulac, Christophe Philippe, Catherine Chiron, Rima Nabbout and Thierry Bienvenu

    Version of Record online : 7 FEB 2008, DOI: 10.1111/j.1528-1167.2007.01520.x

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    Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene

    Developmental Medicine & Child Neurology

    Volume 55, Issue 5, May 2013, Pages: 480–484, EVELINE E O HAGEBEUK, RENILDE A S VAN DEN BOSSCHE and AL W DE WEERD

    Version of Record online : 14 NOV 2012, DOI: 10.1111/j.1469-8749.2012.04432.x

  16. CDKL5 knockout leads to altered inhibitory transmission in the cerebellum of adult mice

    Genes, Brain and Behavior

    Volume 15, Issue 5, June 2016, Pages: 491–502, S. Sivilia, C. Mangano, S. Beggiato, A. Giuliani, R. Torricella, V. A. Baldassarro, M. Fernandez, L. Lorenzini, L. Giardino, A. C. Borelli, L. Ferraro and L. Calzà

    Version of Record online : 3 MAY 2016, DOI: 10.1111/gbb.12292

  17. Inactivation of the CDKL3 gene at 5q31.1 by a balanced t(X;5) translocation associated with nonspecific mild mental retardation

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 10, 15 May 2008, Pages: 1267–1279, Aline Dubos, Solange Pannetier and André Hanauer

    Version of Record online : 15 APR 2008, DOI: 10.1002/ajmg.a.32274

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    STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients

    Epilepsia

    Volume 52, Issue 10, October 2011, Pages: 1820–1827, Cyril Mignot, Marie-Laure Moutard, Oriane Trouillard, Isabelle Gourfinkel-An, Aurélia Jacquette, Benoit Arveiler, Fanny Morice-Picard, Didier Lacombe, Catherine Chiron, Dorothée Ville, Perrine Charles, Eric LeGuern, Christel Depienne and Delphine Héron

    Version of Record online : 18 JUL 2011, DOI: 10.1111/j.1528-1167.2011.03163.x

  19. Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 354–362, Anna Urbanowicz, Jenny Downs, Sonya Girdler, Natalie Ciccone and Helen Leonard

    Version of Record online : 26 NOV 2014, DOI: 10.1002/ajmg.a.36871

  20. Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 713–719, Roksana Armani, Hayley Archer, Angus Clarke, Pradeep Vasudevan, Christiane Zweier, Gladys Ho, Sarah Williamson, Desiree Cloosterman, Nan Yang and John Christodoulou

    Version of Record online : 1 MAR 2012, DOI: 10.1002/ajmg.a.34206