Associated Papers
Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.
Sanri A et al.
Brain & Development, 2026
Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children.
Chen Y et al.
Seizure, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
A Novel Mouse Model Unveils Protein Deficiency in Truncated CDKL5 Mutations.
Feng X et al.
Neuroscience Bulletin, 2025
Identification of Genetic Variants in Status Epilepticus Associated With Fever.
Hanafusa H et al.
Brain and Behavior, 2025
Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies.
Sun D et al.
Frontiers in Pediatrics, 2021
Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.
Zhang Q et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A et al.
Frontiers in Neuroscience, 2019
Functional abilities in children and adults with the CDKL5 disorder.
Fehr S et al.
American Journal of Medical Genetics. Part A, 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
Mutations in the C-terminus of CDKL5: proceed with caution.
Diebold B et al.
European Journal of Human Genetics : Ejhg, 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
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
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
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.
Erez A et al.
Neurogenetics, 2009
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
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
Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized.
Bienvenu T et al.
Nature Reviews. Genetics, 2006
Early onset seizures and Rett-like features associated with mutations in CDKL5.
Evans JC et al.
European Journal of Human Genetics : Ejhg, 2005
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
Scala E et al.
Journal of Medical Genetics, 2005
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