Rett syndrome and CDKL5 deficiency disorder: From bench to clinic

Shilpa D. Kadam, Brennan J. Sullivan, Archita Goyal, Mary E. Blue, Constance Smith-Hicks

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Article number5098
JournalInternational journal of molecular sciences
Issue number20
StatePublished - Oct 2 2019


  • Clinical trials
  • Glutamate toxicity
  • Interneurons
  • Preclinical modeling
  • Seizures
  • Sleep

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry


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