Associated Papers
CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.
Paul SK et al.
International Journal of Molecular Sciences, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.
Pang N et al.
Gene, 2024
Epilepsy-Related CDKL5 Deficiency Slows Synaptic Vesicle Endocytosis in Central Nerve Terminals.
Kontaxi C et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2023
Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies.
Hieu NLT et al.
American Journal of Medical Genetics. Part A, 2022
CDKL5 deficiency disorder: clinical features, diagnosis, and management.
Leonard H et al.
The Lancet. Neurology, 2022
International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.
Amin S et al.
Frontiers in Neurology, 2022
CDKL5 kinase controls transcription-coupled responses to DNA damage.
Khanam T et al.
The Embo Journal, 2021
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
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 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
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 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
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N et al.
Journal of Medical Genetics, 2016
Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.
Gürsoy S et al.
Journal of Child Neurology, 2016
There is variability in the attainment of developmental milestones in the CDKL5 disorder.
Fehr S et al.
Journal of Neurodevelopmental Disorders, 2015
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.
Yamamoto T et al.
Human Genome Variation, 2015
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
Zhao Y et al.
Bmc Medical Genetics, 2014
Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.
Das DK et al.
Neuromolecular Medicine, 2013
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.
Raymond L et al.
Gene, 2013
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
Bahi-Buisson N et al.
American Journal of Medical Genetics. Part A, 2012
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
[Molecular basis of Rett syndrome: A current look].
Pantaleón F G et al.
Revista Chilena De Pediatria, 0
Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene.
Gökben S et al.
The Turkish Journal of Pediatrics, 0