ReviewEpilepsia2025
Operational definition of developmental and epileptic encephalopathies to underpin the design of therapeutic trials.
Review in Epilepsia, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 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
26 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- SUDEP and mortality in developmental and epileptic encephalopathies: A meta-analysis of randomized clinical trials and extension studies.Epilepsia · 2026Pooled it
- Pooled it
- A phase 3, randomized clinical trial of soticlestat as adjunctive therapy for Lennox-Gastaut syndrome.Epilepsia · 2026Trial
- Bexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC).Epilepsia · 2026Trial
- Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Multiple Ascending Doses and Dose Titration of Bexicaserin in Healthy Participants in a Randomized, Double-Blind, Placebo-Controlled Study.Clinical pharmacology in drug development · 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
- Observational
- Impaired gephyrin G-domain trimerization and phase separation in a patient with developmental epileptic encephalopathy.EMBO molecular medicine · 2026Article
- Cognitive and behavioral clinical outcome assessments in children with developmental and epileptic encephalopathies: Issues and instruments.Epilepsia · 2026Review
- 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
- Holistic management of epilepsy in adults with intellectual development disorders.Epileptic disorders : international epilepsy journal with videotape · 2026Article
- [Associations Between Genetic Causes of Psychiatric Disorders and Rare Monogenic Epilepsies].Der Nervenarzt · 2026Review
- KCNQ2 Gain-of-Function Mutation Presenting as Respiratory Dysfunction and Non-epileptic Myoclonus.Cureus · 2026Article
- Article
- Population-Based Study of Drug-Resistant Epilepsy Before Age Two: Predominance of Developmental and Epileptic Encephalopathies.Neurology international · 2026Article
- Efficacy and Safety of Zonisamide Addition in Children With Developmental Epileptic Encephalopathy/Epileptic Encephalopathy: A Real-World Study.CNS neuroscience & therapeutics · 2026Article
- Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE.Epilepsia open · 2026Article
- Article
- Ketogenic diet therapy in developmental and epileptic encephalopathies: toward syndrome- and gene-informed precision therapy.Frontiers in pediatrics · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies, characterized by drug-resistant seizures and developmental slowing or regression. DEEs encompass many epilepsy syndromes, although not all patients with a DEE can be classified into a specific syndrome. Our understanding of the etiologies of DEEs has been revolutionized with next-generation sequencing, with more than 900 genes implicated, in addition to structural causes. It is therefore now possible to consider precision medicine and novel therapeutic approaches for these devastating diseases with trials of repurposed and new drugs, including gene therapies. Trials are being designed to target either DEE diseases more broadly, specific DEE syndromes, or specific genetic DEEs. To serve this purpose, a clear operational definition of DEEs is needed to ensure that appropriate patients are selected for trials with precisely defined, targeted outcome measures. Herein we propose the operational definition of DEEs to set the stage for the development of DEE therapies.
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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.