ArticleFrontiers in biology2017
Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder.
Article in Frontiers in biology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 21 citations in OpenAlex.
- Independent genetic strategies define the scope and limits of CDKL5 deficiency disorder reversal.Cell reports. Medicine · 2025Article
- Cell type-specific expression, regulation and compensation of CDKL5 activity in mouse brain.Molecular psychiatry · 2024Article
- Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability.Nature communications · 2023Article
- CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Loss of CDKL5 Causes Synaptic GABAergic Defects That Can Be Restored with the Neuroactive Steroid Pregnenolone-Methyl-Ether.International journal of molecular sciences · 2022Article
- CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development.Biochemical Society transactions · 2022Review
- X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder.Neurobiology of disease · 2021Article
- Cyclin-dependent-like kinase 5 is required for pain signaling in human sensory neurons and mouse models.Science translational medicine · 2020Article
- Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.Pediatric neurology · 2019Review
- Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder.Nature communications · 2019Article
- NGL-1/LRRC4C-Mutant Mice Display Hyperactivity and Anxiolytic-Like Behavior Associated With Widespread Suppression of Neuronal Activity.Frontiers in molecular neuroscience · 2019Article
- Chemical genetic identification of CDKL5 substrates reveals its role in neuronal microtubule dynamics.The EMBO journal · 2018Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundThe discovery that mutations in cyclin-dependent kinase-like 5 (
methodsA systematic review process was conducted using the PubMed search engine focusing on CDKL5 studies in the recent ten years. We analyzed these publications and summarized the findings into four sections: genetic studies, CDKL5 expression patterns, molecular functions, and animal models. We also discussed challenges and future directions in each section.
resultsOn the clinical side, CDKL5 disorder is characterized by early onset epileptic seizures, intellectual disability, and stereotypical behaviors. On the research side, a series of molecular and genetic studies in human patients, cell cultures and animal models have established the causality of CDKL5 to the infantile epileptic encephalopathy, and pointed to a key role for CDKL5 in regulating neuronal function in the brain. Mouse models of CDKL5 disorder have also been developed, and notably, manifest behavioral phenotypes, mimicking numerous clinical symptoms of CDKL5 disorder and advancing CDKL5 research to the preclinical stage.
conclusionsGiven what we have learned thus far, future identification of robust, quantitative, and sensitive outcome measures would be the key in animal model studies, particularly in heterozygous females. In the meantime, molecular and cellular studies of CDKL5 should focus on mechanism-based investigation and aim to uncover druggable targets that offer the potential to rescue or ameliorate CDKL5 disorder-related phenotypes.
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Registered trials
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