Associated Papers
CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.
Paul SK et al.
International Journal of Molecular Sciences, 2025
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B et al.
Epilepsia Open, 2023
CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases.
Darra F et al.
Epilepsy Research, 2023
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
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.
Yamamoto T et al.
Human Genome Variation, 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
Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.
Sartori S et al.
Journal of Child Neurology, 2011
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