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Yang, C. CDKL5 Deficiency Disorder. Encyclopedia. Available online: https://encyclopedia.pub/entry/5057 (accessed on 22 September 2026).
Yang C. CDKL5 Deficiency Disorder. Encyclopedia. Available at: https://encyclopedia.pub/entry/5057. Accessed September 22, 2026.
Yang, Catherine. "CDKL5 Deficiency Disorder" Encyclopedia, https://encyclopedia.pub/entry/5057 (accessed September 22, 2026).
Yang, C. (2020, December 24). CDKL5 Deficiency Disorder. In Encyclopedia. https://encyclopedia.pub/entry/5057
Yang, Catherine. "CDKL5 Deficiency Disorder." Encyclopedia. Web. 24 December, 2020.
CDKL5 Deficiency Disorder
Edit

CDKL5 deficiency disorder is characterized by seizures that begin in infancy, followed by significant delays in many aspects of development.

genetic conditions

References

  1. Bahi-Buisson N, Bienvenu T. CDKL5-Related Disorders: From Clinical Descriptionto Molecular Genetics. Mol Syndromol. 2012 Apr;2(3-5):137-152.
  2. Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gérard M, GiulianoF, Motte J, Héron D, Morel MA, Plouin P, Richelme C, des Portes V, Dulac O,Philippe C, Chiron C, Nabbout R, Bienvenu T. The three stages of epilepsy inpatients with CDKL5 mutations. Epilepsia. 2008 Jun;49(6):1027-37. doi:10.1111/j.1528-1167.2007.01520.x.
  3. 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.
  4. Demarest ST, Olson HE, Moss A, Pestana-Knight E, Zhang X, Parikh S, SwansonLC, Riley KD, Bazin GA, Angione K, Niestroj LM, Lal D, Juarez-Colunga E, BenkeTA. CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. Epilepsia. 2019 Aug;60(8):1733-1742. doi:10.1111/epi.16285.
  5. Fehr S, Downs J, Ho G, de Klerk N, Forbes D, Christodoulou J, Williams S,Leonard H. Functional abilities in children and adults with the CDKL5 disorder.Am J Med Genet A. 2016 Nov;170(11):2860-2869. doi: 10.1002/ajmg.a.37851.
  6. 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.
  7. 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.
  8. Jähn J, Caliebe A, von Spiczak S, Boor R, Stefanova I, Stephani U, Helbig I,Muhle H. CDKL5 mutations as a cause of severe epilepsy in infancy: clinical andelectroencephalographic long-term course in 4 patients. J Child Neurol. 2013Jul;28(7):937-41. doi: 10.1177/0883073812451497.
  9. Mangatt M, Wong K, Anderson B, Epstein A, Hodgetts S, Leonard H, Downs J.Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rettsyndrome. Orphanet J Rare Dis. 2016 Apr 14;11:39. doi: 10.1186/s13023-016-0418-y.
  10. Mori Y, Downs J, Wong K, Anderson B, Epstein A, Leonard H. Impacts of caringfor a child with the CDKL5 disorder on parental wellbeing and family quality oflife. Orphanet J Rare Dis. 2017 Jan 19;12(1):16. doi: 10.1186/s13023-016-0563-3.
  11. Moseley BD, Dhamija R, Wirrell EC, Nickels KC. Historic, clinical, andprognostic features of epileptic encephalopathies caused by CDKL5 mutations.Pediatr Neurol. 2012 Feb;46(2):101-5. doi: 10.1016/j.pediatrneurol.2011.11.007.
  12. Müller A, Helbig I, Jansen C, Bast T, Guerrini R, Jähn J, Muhle H, Auvin S,Korenke GC, Philip S, Keimer R, Striano P, Wolf NI, Püst B, Thiels Ch, FogarasiA, Waltz S, Kurlemann G, Kovacevic-Preradovic T, Ceulemans B, Schmitt B, PhilippiH, Tarquinio D, Buerki S, von Stülpnagel C, Kluger G. Retrospective evaluation oflow long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patientswith CDKL5-related epilepsy. Eur J Paediatr Neurol. 2016 Jan;20(1):147-51. doi:10.1016/j.ejpn.2015.09.001.
  13. Olson HE, Demarest ST, Pestana-Knight EM, Swanson LC, Iqbal S, Lal D, Leonard H, Cross JH, Devinsky O, Benke TA. Cyclin-Dependent Kinase-Like 5 DeficiencyDisorder: Clinical Review. Pediatr Neurol. 2019 Aug;97:18-25. doi:10.1016/j.pediatrneurol.2019.02.015.
  14. Symonds JD, Zuberi SM, Stewart K, McLellan A, O'Regan M, MacLeod S, JollandsA, Joss S, Kirkpatrick M, Brunklaus A, Pilz DT, Shetty J, Dorris L, Abu-Arafeh I,Andrew J, Brink P, Callaghan M, Cruden J, Diver LA, Findlay C, Gardiner S,Grattan R, Lang B, MacDonnell J, McKnight J, Morrison CA, Nairn L, Slean MM,Stephen E, Webb A, Vincent A, Wilson M. Incidence and phenotypes ofchildhood-onset genetic epilepsies: a prospective population-based nationalcohort. Brain. 2019 Aug 1;142(8):2303-2318. doi: 10.1093/brain/awz195.
  15. Zhu YC, Xiong ZQ. Molecular and Synaptic Bases of CDKL5 Disorder. DevNeurobiol. 2019 Jan;79(1):8-19. doi: 10.1002/dneu.22639.Review.
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