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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 clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. ...The CDKL5 disorder presents with a distinct clinical profile and a subtle facia …
The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patien …
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 also found
CDKL5 deficiency disorder (CDD) is an independent clinical entity associated with early