Associated Papers
Highly purified cannabidiol (CBD) in CDKL5 deficiency disorder (CDD): Open-label prospective study.
Perulli M et al.
Epilepsia Open, 2026
Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.
Sanri A et al.
Brain & Development, 2026
Suppressor tRNAs as personalized therapy for nonsense mutation-associated pathologies.
Ignatova Z et al.
Pharmacology & Therapeutics, 2025
An open-source pipeline for calcium imaging and all-optical physiology in human stem cell-derived neurons.
Afshar-Saber W et al.
Biorxiv : the Preprint Server for Biology, 2025
A Novel Mouse Model Unveils Protein Deficiency in Truncated CDKL5 Mutations.
Feng X et al.
Neuroscience Bulletin, 2025
Engineered tRNAs efficiently suppress CDKL5 premature termination codons.
Pezzini S et al.
Scientific Reports, 2024
Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study.
Pepe G et al.
Genes, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B et al.
International Journal of Molecular Sciences, 2024
From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice.
De Wachter M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM et al.
The Lancet. Neurology, 2023
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder.
Wong K et al.
European Journal of Human Genetics : Ejhg, 2023
CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases.
Darra F et al.
Epilepsy Research, 2023
CDKL5 deficiency disorder: clinical features, diagnosis, and management.
Leonard H et al.
The Lancet. Neurology, 2022
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Fang X et al.
Molecular Genetics & Genomic Medicine, 2022
Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition.
Peron A et al.
Journal of Medical Genetics, 2022
Modeling Epilepsy Using Human Induced Pluripotent Stem Cells-Derived Neuronal Cultures Carrying Mutations in Ion Channels and the Mechanistic Target of Rapamycin Pathway.
Weng OY et al.
Frontiers in Molecular Neuroscience, 2022
Altered network and rescue of human neurons derived from individuals with early-onset genetic epilepsy.
Negraes PD et al.
Molecular Psychiatry, 2021
Effect of fenfluramine on convulsive seizures in CDKL5 deficiency disorder.
Devinsky O et al.
Epilepsia, 2021
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD).
Chen PF et al.
Stem Cell Research, 2021
Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
MacKay CI et al.
Clinical Genetics, 2021
Aminoglycoside drugs induce efficient read-through of CDKL5 nonsense mutations, slightly restoring its kinase activity.
Fazzari M et al.
Rna Biology, 2019
CDKL5 variants: Improving our understanding of a rare neurologic disorder.
Hector RD et al.
Neurology. Genetics, 2017
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Yoo Y et al.
Annals of Neurology, 2017
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
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
A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.
Williamson SL et al.
Human Genetics, 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
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.
Rademacher N et al.
Neurogenetics, 2011
A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.
Psoni S et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2010
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
Russo S et al.
Neurogenetics, 2009
Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature.
Pintaudi M et al.
Epilepsy & Behavior : E&b, 2008