{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T22:57:51Z","timestamp":1792709871896,"version":"4.5.0"},"reference-count":136,"publisher":"MDPI AG","issue":"20","license":[{"start":{"date-parts":[[2019,10,15]],"date-time":"2019-10-15T00:00:00Z","timestamp":1571097600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R01HD090884 (SDK)"],"award-info":[{"award-number":["R01HD090884 (SDK)"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Rett syndrome (RTT) and CDKL5 deficiency disorder (CDD) are two rare X-linked developmental brain disorders with overlapping but distinct phenotypic features. This review examines the impact of loss of methyl-CpG-binding protein 2 (MeCP2) and cyclin-dependent kinase-like 5 (CDKL5) on clinical phenotype, deficits in synaptic- and circuit-homeostatic mechanisms, seizures, and sleep. In particular, we compare the overlapping and contrasting features between RTT and CDD in clinic and in preclinical studies. Finally, we discuss lessons learned from recent clinical trials while reviewing the findings from pre-clinical studies.<\/jats:p>","DOI":"10.3390\/ijms20205098","type":"journal-article","created":{"date-parts":[[2019,10,16]],"date-time":"2019-10-16T03:32:54Z","timestamp":1571196774000},"page":"5098","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":52,"title":["Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic"],"prefix":"10.3390","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5136-9594","authenticated-orcid":false,"given":"Shilpa D.","family":"Kadam","sequence":"first","affiliation":[{"name":"The Hugo Moser Research Institute at Kennedy Krieger, Baltimore, MD 21205, USA"},{"name":"Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4023-1324","authenticated-orcid":false,"given":"Brennan J.","family":"Sullivan","sequence":"additional","affiliation":[{"name":"The Hugo Moser Research Institute at Kennedy Krieger, Baltimore, MD 21205, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Archita","family":"Goyal","sequence":"additional","affiliation":[{"name":"The Hugo Moser Research Institute at Kennedy Krieger, Baltimore, MD 21205, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8322-9972","authenticated-orcid":false,"given":"Mary E.","family":"Blue","sequence":"additional","affiliation":[{"name":"The Hugo Moser Research Institute at Kennedy Krieger, Baltimore, MD 21205, USA"},{"name":"Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA"},{"name":"The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constance","family":"Smith-Hicks","sequence":"additional","affiliation":[{"name":"The Hugo Moser Research Institute at Kennedy Krieger, Baltimore, MD 21205, USA"},{"name":"Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,10,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/mrdd.10020","article-title":"Clinical manifestations and stages of Rett syndrome","volume":"8","author":"Hagberg","year":"2002","journal-title":"Ment. Retard. Dev. Disabil. Res. 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