ArticleNeurogenetics2009
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
Article in Neurogenetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.International journal of molecular sciences · 2021Pooled it
- Clinical and Evolutionary Aspects of CDKL5-Related Developmental Epileptic Encephalopathy: A Case Report.Cureus · 2026Article
- Base editing restores CDKL5 expression and rescues neuronal deficits in a patient-derived model of CDKL5 deficiency disorder.Scientific reports · 2026Article
- A Novel Mouse Model Unveils Protein Deficiency in Truncated CDKL5 Mutations.Neuroscience bulletin · 2025Article
- A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication.Human genome variation · 2024Article
- First report of Tunisian patients with CDKL5-related encephalopathy.Epilepsia open · 2024Article
- CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Comprehensive In Silico Functional Prediction Analysis of CDKL5 by Single Amino Acid Substitution in the Catalytic Domain.International journal of molecular sciences · 2022Article
- Cdkl5 mutant zebrafish shows skeletal and neuronal alterations mimicking human CDKL5 deficiency disorder.Scientific reports · 2022Article
- Novel preclinical model for CDKL5 deficiency disorder.Disease models & mechanisms · 2022Article
- International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.Frontiers in neurology · 2022Article
- CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy.Brain sciences · 2020Article
- Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder.Neural plasticity · 2020Review
- Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy.International journal of molecular sciences · 2019Article
- Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder?International journal of molecular sciences · 2019Review
- Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.Pediatric neurology · 2019Review
- High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.Scientific reports · 2017Article
- Autism spectrum disorder and epileptic encephalopathy: common causes, many questions.Journal of neurodevelopmental disorders · 2017Review
- Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome.Orphanet journal of rare diseases · 2016Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
It has been found that CDKL5 gene mutations are responsible for early-onset epilepsy and drug resistance. We screened a population of 92 patients with classic/atypical Rett syndrome, 17 Angelman/Angelman-like patients and six idiopathic autistic patients for CDKL5 mutations and exon deletions and identified seven novel mutations: six in the Rett subset and one in an Angelman patient. This last, an insertion in exon 11, c.903_904 dupGA, p.Leu302Aspfx49X, is associated with a relatively mild clinical presentation as the patient is the only one capable of sitting and walking alone. Of the six mutations, two are de novo missense changes affecting highly conserved aminoacid residues, c.215 T > C p.Ile72Thr and c.380A > G p.His127Arg (present in a mosaic condition) found in two girls with the most severe clinical presentation, while the remaining are the splicing c.145 + 2 T > C and c.2376 + 5G > A, the c.1648C > T p.Arg550X and the MPLA-identified c.162_99del261 mutation. RNA characterisation of four mutations revealed the aberrant transcript of the missense allele (case 2) and not the stop mutation (case 3), but also allowed the splicing mutation (case 1) and the c.-162_99del261 (case 4) to be categorised as truncating. The obtained data reinforce the view that a more severe phenotype is due more to an altered protein than haploinsufficiency. Furthermore, the mutational repertoire of the CDKL5 gene is shown to be expanded by testing patients with phenotypical overlap to Rett syndrome and applying multiplex ligation-dependent probe amplification.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.