Rett syndrome and CDKL5 deficiency disorder: From bench to clinic

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

doi:10.3390/ijms20205098

Rett syndrome and CDKL5 deficiency disorder: From bench to clinic

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

Kennedy Krieger Institute

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Abstract

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 language	English (US)
Article number	5098
Journal	International journal of molecular sciences
Volume	20
Issue number	20
DOIs	https://doi.org/10.3390/ijms20205098
State	Published - Oct 2 2019

Keywords

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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10.3390/ijms20205098

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title = "Rett syndrome and CDKL5 deficiency disorder: From bench to clinic",

abstract = "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.",

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AU - Kadam, Shilpa D.

AU - Sullivan, Brennan J.

AU - Goyal, Archita

AU - Blue, Mary E.

AU - Smith-Hicks, Constance

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AB - 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.

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KW - Seizures

KW - Sleep

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Rett syndrome and CDKL5 deficiency disorder: From bench to clinic

Abstract

Keywords

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