ArticleFrontiers in neurology2022
International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.
Article in Frontiers in neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 35 citations in OpenAlex.
- Cognitive and behavioral clinical outcome assessments in children with developmental and epileptic encephalopathies: Issues and instruments.Epilepsia · 2026Review
- Comprehensive High-Depth Proteomic Analysis of Plasma Extracellular Vesicle-Containing Preparations in CDKL5 Deficiency Disorder.Biomedicines · 2026Article
- Genetic Diagnosis and Discovery Enabled by Large Language Models.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Highly purified cannabidiol (CBD) in CDKL5 deficiency disorder (CDD): Open-label prospective study.Epilepsia open · 2026Article
- Time-resolved phenotyping of seizure evolution in developmental and epileptic encephalopathy: insights and gaps from the CYFIP2 Arg87Cys mouse model.Frontiers in synaptic neuroscience · 2026Review
- Altered Short Non-Coding RNA Landscape in the Hippocampus of a Mouse Model of CDKL5 Deficiency Disorder.Biomolecules · 2025Article
- CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.International journal of molecular sciences · 2025Article
- Caregivers' Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey.JMIR formative research · 2025Article
- Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.American journal of medical genetics. Part A · 2025Article
- Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database.CNS drugs · 2024Article
- Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report.Neurology. Clinical practice · 2024Article
- Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.Epilepsia open · 2024Review
- Gut microbiota profile in CDKL5 deficiency disorder patients.Scientific reports · 2024Article
- CDKL5 Deficiency Disorder: Some Lessons Learned 20 Years After the First Description.American journal on intellectual and developmental disabilities · 2024Article
- Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder.Genetics in medicine open · 2024Article
- Review
- Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders.Seminars in neurology · 2023Review
- Ganaxolone: A New Treatment for CDKL5 Deficiency Disorder.Epilepsy currentsArticle
Corrections and comments
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Authors and funding
17 authors at 14 institutions in 6 countries.
Funding
Abstract
CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in
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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.