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- W2916172020 abstract "Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene CDKL5. This unique disorder includes early infantile onset refractory epilepsy, hypotonia, developmental intellectual and motor disabilities, and cortical visual impairment. We review the clinical presentations and genetic variations in CDD based on a systematic literature review and experience in the CDKL5 Centers of Excellence. We propose minimum diagnostic criteria. Pathogenic variants include deletions, truncations, splice variants, and missense variants. Pathogenic missense variants occur exclusively within the kinase domain or affect splice sites. The CDKL5 protein is widely expressed in the brain, predominantly in neurons, with roles in cell proliferation, neuronal migration, axonal outgrowth, dendritic morphogenesis, and synapse development. The molecular biology of CDD is revealing opportunities in precision therapy, with phase 2 and 3 clinical trials underway or planned to assess disease specific and disease modifying treatments." @default.
- W2916172020 created "2019-03-02" @default.
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- W2916172020 date "2019-08-01" @default.
- W2916172020 modified "2023-10-17" @default.
- W2916172020 title "Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review" @default.
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- W2916172020 doi "https://doi.org/10.1016/j.pediatrneurol.2019.02.015" @default.
- W2916172020 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7120929" @default.
- W2916172020 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30928302" @default.
- W2916172020 hasPublicationYear "2019" @default.
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