Associated Papers
CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.
Paul SK et al.
International Journal of Molecular Sciences, 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
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
MacKay CI et al.
Clinical Genetics, 2021
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
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
A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome.
Christianto A et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.
Yamamoto T et al.
Human Genome Variation, 2015
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
Bahi-Buisson N et al.
American Journal of Medical Genetics. Part A, 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
Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.
Masliah-Plachon J et al.
American Journal of Medical Genetics. Part A, 2010
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
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
Elia M et al.
Neurology, 2008
[Molecular basis of Rett syndrome: A current look].
Pantaleón F G et al.
Revista Chilena De Pediatria, 0