Associated Papers
CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.
Paul SK et al.
International Journal of Molecular Sciences, 2025
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
Marques P et al.
Epilepsy Research, 2024
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Scheffer IE et al.
Developmental Medicine and Child Neurology, 2023
Active human full-length CDKL5 produced in the Antarctic bacterium Pseudoalteromonas haloplanktis TAC125.
Colarusso A et al.
Microbial Cell Factories, 2022
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
Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder.
Katayama S et al.
Neural Plasticity, 2020
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
CDKL Family Kinases Have Evolved Distinct Structural Features and Ciliary Function.
Canning P et al.
Cell Reports, 2018
CDKL5 variants: Improving our understanding of a rare neurologic disorder.
Hector RD et al.
Neurology. Genetics, 2017
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Identification of amphiphysin 1 as an endogenous substrate for CDKL5, a protein kinase associated with X-linked neurodevelopmental disorder.
Sekiguchi M et al.
Archives of Biochemistry and Biophysics, 2013
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
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
Nemos C et al.
Clinical Genetics, 2009
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
Key clinical features to identify girls with CDKL5 mutations.
Bahi-Buisson N et al.
Brain : a Journal of Neurology, 2008
The three stages of epilepsy in patients with CDKL5 mutations.
Bahi-Buisson N et al.
Epilepsia, 2008
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.
Rosas-Vargas H et al.
Journal of Medical Genetics, 2008
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
Archer HL et al.
Journal of Medical Genetics, 2006
[Molecular basis of Rett syndrome: A current look].
Pantaleón F G et al.
Revista Chilena De Pediatria, 0