Associated Papers
CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.
Paul SK et al.
International Journal of Molecular Sciences, 2025
Navigating Uncertainty: Assessing Variants of Uncertain Significance in the CDKL5 Gene for Developmental and Epileptic Encephalopathy Using In Silico Prediction Tools and Computational Analysis.
Yalçın Çapan Ö
Journal of Molecular Neuroscience : Mn, 2025
Comprehensive In Silico Functional Prediction Analysis of CDKL5 by Single Amino Acid Substitution in the Catalytic Domain.
Yoshimura Y et al.
International Journal of Molecular Sciences, 2022
36293137 (PubMed )
Supplement: ijms-23-12281-s001.zip › ijms-1934913-supplementary.pdf
CDKL5 deficiency disorder: clinical features, diagnosis, and management.
Leonard H et al.
The Lancet. Neurology, 2022
CDKL5 kinase controls transcription-coupled responses to DNA damage.
Khanam T et al.
The Embo Journal, 2021
Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?
MacKay CI et al.
American Journal of Medical Genetics. Part A, 2020
Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder.
Katayama S et al.
Neural Plasticity, 2020
In Silico Study of Rett Syndrome Treatment-Related Genes, MECP2, CDKL5, and FOXG1, by Evolutionary Classification and Disordered Region Assessment.
Fahmi M et al.
International Journal of Molecular Sciences, 2019
31717404 (PubMed )
Supplement: ijms-20-05593-s001.zip › supplementary_table.xlsx › Table_S4
Aminoglycoside drugs induce efficient read-through of CDKL5 nonsense mutations, slightly restoring its kinase activity.
Fazzari M et al.
Rna Biology, 2019
Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.
Muñoz IM et al.
The Embo Journal, 2018
CDKL5 variants: Improving our understanding of a rare neurologic disorder.
Hector RD et al.
Neurology. Genetics, 2017
There is variability in the attainment of developmental milestones in the CDKL5 disorder.
Fehr S et al.
Journal of Neurodevelopmental Disorders, 2015
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