The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

CDKL5  -  cyclin-dependent kinase-like 5

Homo sapiens

Synonyms: Cyclin-dependent kinase-like 5, EIEE2, ISSX, STK9, Serine/threonine-protein kinase 9
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of CDKL5


Psychiatry related information on CDKL5


High impact information on CDKL5

  • These results also suggest that mutations in CDKL5 can lead to a clinical phenotype that overlaps RTT [1].
  • The ARX and CDKL5 genes, both of which are located within the Xp22 region, were sequenced in the affected family members, and a deletion of nucleotide 183 of the coding sequence (c.183delT) was identified in CDKL5 in the affected family members [1].
  • Recently, we showed that truncation of the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene caused mental retardation and severe neurological symptoms in two female patients [5].
  • We show that STK9 is subject to X-inactivation in normal female somatic cells and is functionally absent in the two patients, because of preferential inactivation of the normal X [6].
  • Furthermore, this paper contributes to the clarification of the phenotype associated with CDKL5 mutations and indicates that CDKL5 should be analyzed in each patient showing a clinical course similar to RTT but characterized by a lack of an early normal period due to the presence of seizures [7].

Biological context of CDKL5


Other interactions of CDKL5


Analytical, diagnostic and therapeutic context of CDKL5


  1. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P., Watson, C., Lahooti, H., Ellaway, C.J., Bennetts, B., Leonard, H., Gécz, J. Am. J. Hum. Genet. (2004) [Pubmed]
  2. 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) [Pubmed]
  3. Myoclonic encephalopathy in the CDKL5 gene mutation. Buoni, S., Zannolli, R., Colamaria, V., Macucci, F., di Bartolo, R.M., Corbini, L., Orsi, A., Zappella, M., Hayek, J. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. (2006) [Pubmed]
  4. Early onset seizures and Rett-like features associated with mutations in CDKL5. Evans, J.C., Archer, H.L., Colley, J.P., Ravn, K., Nielsen, J.B., Kerr, A., Williams, E., Christodoulou, J., Gécz, J., Jardine, P.E., Wright, M.J., Pilz, D.T., Lazarou, L., Cooper, D.N., Sampson, J.R., Butler, R., Whatley, S.D., Clarke, A.J. Eur. J. Hum. Genet. (2005) [Pubmed]
  5. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Tao, J., Van Esch, H., Hagedorn-Greiwe, M., Hoffmann, K., Moser, B., Raynaud, M., Sperner, J., Fryns, J.P., Schwinger, E., Gécz, J., Ropers, H.H., Kalscheuer, V.M. Am. J. Hum. Genet. (2004) [Pubmed]
  6. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Kalscheuer, V.M., Tao, J., Donnelly, A., Hollway, G., Schwinger, E., Kübart, S., Menzel, C., Hoeltzenbein, M., Tommerup, N., Eyre, H., Harbord, M., Haan, E., Sutherland, G.R., Ropers, H.H., Gécz, J. Am. J. Hum. Genet. (2003) [Pubmed]
  7. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Mari, F., Azimonti, S., Bertani, I., Bolognese, F., Colombo, E., Caselli, R., Scala, E., Longo, I., Grosso, S., Pescucci, C., Ariani, F., Hayek, G., Balestri, P., Bergo, A., Badaracco, G., Zappella, M., Broccoli, V., Renieri, A., Kilstrup-Nielsen, C., Landsberger, N. Hum. Mol. Genet. (2005) [Pubmed]
  8. Functional Consequences of Mutations in CDKL5, an X-linked Gene Involved in Infantile Spasms and Mental Retardation. Bertani, I., Rusconi, L., Bolognese, F., Forlani, G., Conca, B., De Monte, L., Badaracco, G., Landsberger, N., Kilstrup-Nielsen, C. J. Biol. Chem. (2006) [Pubmed]
  9. Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Montini, E., Andolfi, G., Caruso, A., Buchner, G., Walpole, S.M., Mariani, M., Consalez, G., Trump, D., Ballabio, A., Franco, B. Genomics (1998) [Pubmed]
  10. Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2. Huppke, P., Ohlenbusch, A., Brendel, C., Laccone, F., Gärtner, J. Am. J. Med. Genet. A (2005) [Pubmed]
  11. Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. Van Esch, H., Jansen, A., Bauters, M., Froyen, G., Fryns, J.P. Am. J. Med. Genet. A (2007) [Pubmed]
  12. MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. Li, M.R., Pan, H., Bao, X.H., Zhang, Y.Z., Wu, X.R. J. Hum. Genet. (2007) [Pubmed]
WikiGenes - Universities