Associated Papers
A Novel Mouse Model Unveils Protein Deficiency in Truncated CDKL5 Mutations.
Feng X et al.
Neuroscience Bulletin, 2025
The natural history of CDKL5 deficiency disorder into adulthood.
Aledo-Serrano A et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N et al.
Clinical Genetics, 2024
CDKL5 Deficiency Disorder Without Epilepsy.
Aznar-Laín G et al.
Pediatric Neurology, 2023
CDKL5 Deficiency Disorder (CDD)-Rare Presentation in Male.
Rodak M et al.
Children (basel, Switzerland), 2022
Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?
MacKay CI et al.
American Journal of Medical Genetics. Part A, 2020
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.
Fehr S et al.
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
CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.
Bahi-Buisson N et al.
Molecular Syndromology, 2012
Adult Phenotypes in Angelman- and Rett-Like Syndromes.
Willemsen MH 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
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
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
CDKL5 disruption by t(X;18) in a girl with West syndrome.
Nishimura A et al.
Clinical Genetics, 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
Rett syndrome: clinical review and genetic update.
Weaving LS et al.
Journal of Medical Genetics, 2005
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
Weaving LS et al.
American Journal of Human Genetics, 2004
[Molecular basis of Rett syndrome: A current look].
Pantaleón F G et al.
Revista Chilena De Pediatria, 0