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The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
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. Fehr S, et al. Eur J Hum Genet. 2013 Mar;21(3):266-73. doi: 10.1038/ejhg.2012.156. Epub 2012 Aug 8. Eur J Hum Genet. 2013. PMID: 22872100 Free PMC article.
The CDKL5 disorder presents with a distinct clinical profile and a subtle facial, limb and hand phenotype that may assist in differentiation from other early-onset encephalopathies. Although mutations in the CDKL5 gene have been de …
The CDKL5 disorder presents with a distinct clinical profile and a subtle facial, limb and hand phenotype that may assi …
Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.
Kluckova D, Kolnikova M, Medova V, Bognar C, Foltan T, Svecova L, Gnip A, Kadasi L, Soltysova A, Ficek A. Kluckova D, et al. Epilepsy Res. 2021 Oct;176:106699. doi: 10.1016/j.eplepsyres.2021.106699. Epub 2021 Jun 23. Epilepsy Res. 2021. PMID: 34229227
CDKL5 deficiency disorder (CDD) is an independent clinical entity associated with early-onset encephalopathy, which is often considered the type of epileptic encephalopathy with CDKL5 mutation als
CDKL5 deficiency disorder (CDD) is an independent clinical entity associated with early