CDKL5 Gene

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1		Vicky Zhou	+ 518 word(s)	518	2020-12-15 07:47:10

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Zhou, V. CDKL5 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5089 (accessed on 22 September 2026).

Zhou V. CDKL5 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5089. Accessed September 22, 2026.

Zhou, Vicky. "CDKL5 Gene" Encyclopedia, https://encyclopedia.pub/entry/5089 (accessed September 22, 2026).

Zhou, V. (2020, December 24). CDKL5 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5089

Zhou, Vicky. "CDKL5 Gene." Encyclopedia. Web. 24 December, 2020.

CDKL5 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/cdkl5

cyclin dependent kinase like 5

genes

References

Bahi-Buisson N, Bienvenu T. CDKL5-Related Disorders: From Clinical Descriptionto Molecular Genetics. Mol Syndromol. 2012 Apr;2(3-5):137-152.
Bahi-Buisson N, Villeneuve N, Caietta E, Jacquette A, Maurey H, Matthijs G,Van Esch H, Delahaye A, Moncla A, Milh M, Zufferey F, Diebold B, Bienvenu T.Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. Am J MedGenet A. 2012 Jul;158A(7):1612-9. doi: 10.1002/ajmg.a.35401.
Barbiero I, Valente D, Chandola C, Magi F, Bergo A, Monteonofrio L, TramarinM, Fazzari M, Soddu S, Landsberger N, Rinaldo C, Kilstrup-Nielsen C. CDKL5localizes at the centrosome and midbody and is required for faithful celldivision. Sci Rep. 2017 Jul 24;7(1):6228. doi: 10.1038/s41598-017-05875-z.
Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, Vecchi M, Ho G,Polli R, Psoni S, Bao X, de Klerk N, Leonard H, Christodoulou J. The CDKL5disorder is an independent clinical entity associated with early-onsetencephalopathy. Eur J Hum Genet. 2013 Mar;21(3):266-73. doi:10.1038/ejhg.2012.156.
Hector RD, Dando O, Landsberger N, Kilstrup-Nielsen C, Kind PC, Bailey ME,Cobb SR. Characterisation of CDKL5 Transcript Isoforms in Human and Mouse. PLoSOne. 2016 Jun 17;11(6):e0157758. doi: 10.1371/journal.pone.0157758.
Hector RD, Kalscheuer VM, Hennig F, Leonard H, Downs J, Clarke A, Benke TA,Armstrong J, Pineda M, Bailey MES, Cobb SR. CDKL5 variants: Improving ourunderstanding of a rare neurologic disorder. Neurol Genet. 2017 Dec 15;3(6):e200.doi: 10.1212/NXG.0000000000000200.
Valli E, Trazzi S, Fuchs C, Erriquez D, Bartesaghi R, Perini G, Ciani E.CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotesdifferentiation of neuronal cells. Biochim Biophys Acta. 2012Nov-Dec;1819(11-12):1173-85. doi: 10.1016/j.bbagrm.2012.08.001.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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