Associated Papers
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
Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.
Pang N et al.
Gene, 2024
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
Nakhleh Francis Y et al.
Genetics in Medicine Open, 2023
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.
Yao R et al.
Frontiers in Genetics, 2021
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 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
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
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
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.
Mei D et al.
Epilepsia, 2010
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
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
Russo S et al.
Neurogenetics, 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
Rett syndrome: clinical review and genetic update.
Weaving LS et al.
Journal of Medical Genetics, 2005