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Open AccessReview

Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic

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The Hugo Moser Research Institute at Kennedy Krieger, Baltimore, MD 21205, USA
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Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
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The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
*
Authors to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(20), 5098; https://doi.org/10.3390/ijms20205098
Received: 19 August 2019 / Revised: 8 October 2019 / Accepted: 11 October 2019 / Published: 15 October 2019
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. View Full-Text
Keywords: glutamate toxicity; interneurons; seizures; sleep; preclinical modeling; clinical trials glutamate toxicity; interneurons; seizures; sleep; preclinical modeling; clinical trials
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MDPI and ACS Style

Kadam, S.D.; Sullivan, B.J.; Goyal, A.; Blue, M.E.; Smith-Hicks, C. Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic. Int. J. Mol. Sci. 2019, 20, 5098.

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