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. ...Seizures and sleep disturbances were more common than in those with MECP2 mutations whereas features …
The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patien …