Associated Papers
Highly purified cannabidiol (CBD) in CDKL5 deficiency disorder (CDD): Open-label prospective study.
Perulli M et al.
Epilepsia Open, 2026
CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.
Paul SK et al.
International Journal of Molecular Sciences, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
40160862 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder.
Ivaniuk A et al.
Genetics in Medicine Open, 2024
39669599 (PubMed )
Supplement: mmc1.pdf
Active human full-length CDKL5 produced in the Antarctic bacterium Pseudoalteromonas haloplanktis TAC125.
Colarusso A et al.
Microbial Cell Factories, 2022
36242022 (PubMed )
Supplement: 12934_2022_1939_MOESM1_ESM.docx
CDKL5 kinase controls transcription-coupled responses to DNA damage.
Khanam T et al.
The Embo Journal, 2021
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
Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.
Muñoz IM et al.
The Embo Journal, 2018
There is variability in the attainment of developmental milestones in the CDKL5 disorder.
Fehr S et al.
Journal of Neurodevelopmental Disorders, 2015
CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.
Bahi-Buisson N et al.
Molecular Syndromology, 2012
What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.
Kilstrup-Nielsen C et al.
Neural Plasticity, 2012
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
Russo S et al.
Neurogenetics, 2009
A CDKL5 mutated child with precocious puberty.
Saletti V et al.
American Journal of Medical Genetics. Part A, 2009
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