ReviewNature reviews. Disease primers2024
Developmental and epileptic encephalopathies.
Review in Nature reviews. Disease primers, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 65 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
65 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Cannabidiol Use in Developmental and Epileptic Encephalopathies: A Syndrome- and Age-Stratified Systematic Review and Meta-analysis.CNS drugs · 2026Pooled it
- Exploring the landscape of developmental and epileptic encephalopathies and gene research global dynamics via bibliometric study 2001-2025.Frontiers in neurology · 2025Pooled it
- Individualized antisense oligonucleotides for SCN2A-related developmental epileptic encephalopathy.Nature medicine · 2026Trial
- Bexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC).Epilepsia · 2026Trial
- Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Food Effect of Bexicaserin in Healthy Participants: A First-in-Human Randomized, Double-Blind, Placebo-Controlled Single Ascending Dose Escalation Phase 1 Study.Clinical pharmacology in drug development · 2026Trial
- A randomized controlled double-blind study on the brain protection of infantile patients with epileptic spasm syndrome through atomized inhalation of hydrogen-oxygen gas.Frontiers in neurologyTrial
- Beyond Seizure Management in a Developmental Epileptic Encephalopathy: Expanding the SLC6A1 Neurodevelopmental Disorder Phenotype.Neurology. Genetics · 2026Article
- Neuron-specific WWOX gene therapy produces dose-dependent, durable rescue in a model of WWOX-related epileptic encephalopathy.Molecular therapy. Advances · 2026Article
- Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy.Epilepsia · 2026Article
- The Burden of Epilepsy: The Contribution of Seizures (AES 2025 Presidential Symposium).Epilepsy currents · 2026Article
- Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications.Annals of clinical and translational neurology · 2026Article
- Efficacy and safety of fenfluramine in Dravet syndrome: The impact of patient clinical characteristics.Epilepsia open · 2026Article
- A de novo NR2F1 c.330 C > A variant in Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with early-onset developmental and epileptic encephalopathy.Molecular biology reports · 2026Article
- Real-world-data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy.Epilepsia open · 2026Article
- Phenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy.Epilepsia open · 2026Article
- Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?Journal of neuroscience research · 2026Review
- Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep: Pathophysiological insights and treatment options.Epilepsia · 2026Review
- Cognitive and behavioral clinical outcome assessments in children with developmental and epileptic encephalopathies: Issues and instruments.Epilepsia · 2026Review
- Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.The Journal of clinical investigation · 2026Article
- Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
5 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are characterized by seizures and frequent epileptiform activity associated with developmental slowing or regression. Onset typically occurs in infancy or childhood and includes many well-defined epilepsy syndromes. Patients have wide-ranging comorbidities including intellectual disability, psychiatric features, such as autism spectrum disorder and behavioural problems, movement and musculoskeletal disorders, gastrointestinal and sleep problems, together with an increased mortality rate. Problems change with age and patients require substantial support throughout life, placing a high psychosocial burden on parents, carers and the community. In many patients, the aetiology can be identified, and a genetic cause is found in >50% of patients using next-generation sequencing technologies. More than 900 genes have been identified as monogenic causes of developmental and epileptic encephalopathies and many cell components and processes have been implicated in their pathophysiology, including ion channels and transporters, synaptic proteins, cell signalling and metabolism and epigenetic regulation. Polygenic risk score analyses have shown that common variants also contribute to phenotypic variability. Holistic management, which encompasses antiseizure therapies and care for multimorbidities, is determined both by epilepsy syndrome and aetiology. Identification of the underlying aetiology enables the development of precision medicines to improve the long-term outcome of patients with these devastating diseases.
Indexed as
Identifiers
39237642What OpenQuestion holds
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.