ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2021
Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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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
30 citing papers in PubMed, 46 citations in OpenAlex.
- Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care.Epilepsia open · 2026Review
- Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012-2022).European journal of human genetics : EJHG · 2026Article
- Expanding the electroclinical spectrum of TANC2-related disorders: Lennox-Gastaut syndrome and related developmental epileptic phenotypes.Epilepsia open · 2026Article
- Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.Epilepsia · 2026Article
- Neurodegeneration Biomarkers in Epilepsy: A Critical Review of Current Findings.Life (Basel, Switzerland) · 2026Review
- A mouse model of GRIN2D developmental and epileptic encephalopathy recapitulates the human disease.Brain : a journal of neurology · 2026Article
- Integrating rare and common variation in epilepsy genetics: from genetic architecture to penetrance and clinical expressivity.Frontiers in genetics · 2026Review
- Caregiver-reported meaningful change in functional domains for individuals with developmental and epileptic encephalopathy: A convergent mixed-methods design.Developmental medicine and child neurology · 2025Article
- Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study.Annals of medicine · 2025Article
- "Just realising that I wasn't alone… was profound": a mixed-methods evaluation of a pilot peer-to-peer wellbeing program for carers of children with rare epilepsies.Orphanet journal of rare diseases · 2025Article
- Development and Adaptive Function in Individuals WithNeurology · 2025Article
- Clinical signatures of SYNGAP1-related disorders through data integration.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Precision therapies for genetic epilepsies in 2025: Promises and pitfalls.Epilepsia open · 2025Article
- International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.NPJ genomic medicine · 2025Review
- Dimensionality reduction of quantitative EEG and clinical profiles uncover associations with monogenic neurodevelopmental phenotypes in SNAREopathies.Frontiers in neuroscience · 2025Article
- Adult phenotypes of genetic developmental and epileptic encephalopathies.Brain communications · 2025Article
- Add-on ketogenic diet versus antiseizure medications alone in children with developmental and epileptic encephalopathies: a prospective comparative cohort study.Frontiers in neurology · 2025Article
- Characterisation and automated quantification of induced seizure-related behaviours in Xenopus laevis tadpoles.Journal of neurochemistry · 2024Article
- Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 2024Review
- Quality of life in caregivers of a child with a developmental and epileptic encephalopathy.Developmental medicine and child neurology · 2024Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies. They usually begin in infancy or childhood with drug-resistant seizures, epileptiform EEG patterns, developmental slowing or regression, and cognitive impairment. DEEs have a high mortality and profound morbidity; comorbidities are common including autism spectrum disorders. With advances in genetic sequencing, over 400 genes have been implicated in DEEs, with a genetic cause now identified in over 50% patients. Each genetic DEE typically has a broad genotypic-phenotypic spectrum, based on the underlying pathophysiology. There is a pressing need to improve health outcomes by developing novel targeted therapies for specific genetic DEE phenotypes that not only improve seizure control, but also developmental outcomes and comorbidities. Clinical trial readiness relies firstly on a deep understanding of phenotype-genotype correlation and evolution of a condition over time, in order to select appropriate patients for clinical trials. Understanding the natural history of the disorder informs assessment of treatment efficacy in terms of both clinical outcome and biomarker utility. Natural history studies (NHS) provide a high quality, integrated, comprehensive approach to understanding a complex disease and underpin clinical trial design for novel therapies. NHS are pre-planned observational studies designed to track the course of a disease and identify demographic, genetic, environmental, and other variables, including biomarkers, that correlate with the disease's evolution and outcomes. Due to the rarity of individual genetic DEEs, appropriately funded high-quality DEE NHS will be required, with sustainable frameworks and equitable access to affected individuals globally.
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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.