Associated Papers
Long-term outcome in children with infantile epileptic spasms syndrome: a multicenter retrospective study in Korea.
Choi SA et al.
Clinical and Experimental Pediatrics, 2026
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
A Novel Mouse Model Unveils Protein Deficiency in Truncated CDKL5 Mutations.
Feng X et al.
Neuroscience Bulletin, 2025
Whole Exome Sequencing and Panel-Based Analysis in 176 Spanish Children with Neurodevelopmental Disorders: Focus on Autism Spectrum Disorder and/or Intellectual Disability/Global Developmental Delay.
Sánchez Suárez A et al.
Genes, 2024
Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder.
Ivaniuk A et al.
Genetics in Medicine Open, 2024
CDKL5 Deficiency Disorder Without Epilepsy.
Aznar-Laín G et al.
Pediatric Neurology, 2023
Genetic and clinical variations of developmental epileptic encephalopathies.
Kaya Özçora GD et al.
Neurological Research, 2023
CDKL5 deficiency disorder: clinical features, diagnosis, and management.
Leonard H et al.
The Lancet. Neurology, 2022
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.
Liu L et al.
Molecular Genetics & Genomic Medicine, 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
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.
Olson HE et al.
Pediatric Neurology, 2019
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
Stosser MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
CDKL5 variants: Improving our understanding of a rare neurologic disorder.
Hector RD et al.
Neurology. Genetics, 2017
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 2017
Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation.
Baba S et al.
Brain & Development, 2017
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
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.
Raymond L et al.
Gene, 2013
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
CDKL5 alterations lead to early epileptic encephalopathy in both genders.
Liang JS et al.
Epilepsia, 2011
Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.
Sartori S et al.
Journal of Child Neurology, 2011
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.
Sartori S et al.
American Journal of Medical Genetics. Part A, 2009