ReviewPhysiological reviews2023
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Review in Physiological reviews, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 110 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
110 citing papers in PubMed, 1 synthesis or guideline pooled it, 161 citations in OpenAlex.
- SUDEP and mortality in developmental and epileptic encephalopathies: A meta-analysis of randomized clinical trials and extension studies.Epilepsia · 2026Pooled it
- Bexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC).Epilepsia · 2026Trial
- Associations of Cortical and Subcortical White Matter Morphometric Abnormalities With Clinical and Genetic Findings inNeurology. Genetics · 2026Article
- Terfa Safeguards GABAergic Inhibition and Neuronal Excitability in Zebrafish Through a Foxj3-Linked Transcriptional Mechanism.Neuroscience bulletin · 2026Article
- Silence around SUDEP and its impact on caregivers of individuals with developmental and epileptic encephalopathies: An international survey.Epilepsia open · 2026Article
- A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels.Annals of clinical and translational neurology · 2026Article
- ARX mutation-associated interneuron defects provide insights into mechanisms underlying developmental epilepsies.Brain : a journal of neurology · 2026Article
- A potential therapeutic role of unilateral anterior thalamic deep brain stimulation in epileptic spasms: A case report.Epilepsy & behavior reports · 2026Article
- From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.Human genetics · 2026Article
- RNA-Based Therapeutics in Genetic Neurodevelopmental Disorders: Bridging Molecular Genetics and Precision Medicine.International journal of molecular sciences · 2026Review
- Targeting the Complement-Microglia Axis for Neuroprotection in Pediatric Epilepsy.Biomedicines · 2026Review
- Disrupted inhibitory interneuron development in SCN1A Dravet syndrome revealed by patient-derived subpallial organoids.Epilepsia · 2026Article
- Impaired gephyrin G-domain trimerization and phase separation in a patient with developmental epileptic encephalopathy.EMBO molecular medicine · 2026Article
- Expanding the electroclinical spectrum of TANC2-related disorders: Lennox-Gastaut syndrome and related developmental epileptic phenotypes.Epilepsia open · 2026Article
- Review
- Long-lasting remodeling of astrocytes in an Scna1Epilepsia · 2026Article
- The importance of genetic testing in managing developmental epileptic encephalopathy in resource-limited settings: a case report.Journal of medical case reports · 2026Article
- Early-Onset and Syndromic Pediatric Epilepsy in Kazakhstan: Clinical, Molecular, and Phenotypic Spectrum.Journal of clinical medicine · 2026Article
- Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures.Journal of human genetics · 2026Article
- Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.medRxiv : the preprint server for health sciences · 2026Article
50 more citing papers are in PubMed but not listed here.
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 at 4 institutions in 3 countries.
Funding
Abstract
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of disorders characterized by early-onset, often severe epileptic seizures and EEG abnormalities on a background of developmental impairment that tends to worsen as a consequence of epilepsy. DEEs may result from both nongenetic and genetic etiologies. Genetic DEEs have been associated with mutations in many genes involved in different functions including cell migration, proliferation, and organization, neuronal excitability, and synapse transmission and plasticity. Functional studies performed in different animal models and clinical trials on patients have contributed to elucidate pathophysiological mechanisms underlying many DEEs and have explored the efficacy of different treatments. Here, we provide an extensive review of the phenotypic spectrum included in the DEEs and of the genetic determinants and pathophysiological mechanisms underlying these conditions. We also provide a brief overview of the most effective treatment now available and of the emerging therapeutic approaches.
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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.