ArticleEpilepsy currents2020
A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies.
Article in Epilepsy currents, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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
36 citing papers in PubMed, 70 citations in OpenAlex.
- Review
- Accurately fitting biophysical neuron models to experimental voltage data enabled by meta-learning.Research square · 2026Article
- Caregiver-reported quality of life in individuals with developmental and epileptic encephalopathy and other severe neurodevelopmental encephalopathies.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026Article
- 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
- Article
- Article
- Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome.JCI insight · 2025Article
- Navigating Uncertainty: Assessing Variants of Uncertain Significance in the CDKL5 Gene for Developmental and Epileptic Encephalopathy Using In Silico Prediction Tools and Computational Analysis.Journal of molecular neuroscience : MN · 2025Article
- Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies.Biomolecules · 2025Review
- A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient.Annals of clinical and translational neurology · 2025Article
- Organizational and behavioral models in the management of patients with developmental and epileptic encephalopathy, Lennox-Gastaut syndrome and Dravet syndrome in Italy: a focus on the transition from pediatric to adult care.Frontiers in health services · 2025Article
- National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.Journal of medical genetics · 2024Article
- Effective knockdown-replace gene therapy in a novel mouse model of DNM1 developmental and epileptic encephalopathy.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71.Neurogenetics · 2024Article
- Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.Brain : a journal of neurology · 2024Article
- Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali.Frontiers in genetics · 2024Article
- Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability.Nature communications · 2023Article
- Serious Game for Fine Motor Control Rehabilitation for Children With Epileptic Encephalopathy: Development and Usability Study.JMIR formative research · 2023Article
- RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report.Journal of pediatric genetics · 2023Article
- Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics.Children (Basel, Switzerland) · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Developmental and epileptic encephalopathies (DEEs) can be primarily attributed to genetic causes. The genetic landscape of DEEs has been largely shaped by the rise of high-throughput sequencing, which led to the discovery of new DEE-associated genes and helped identify
Indexed as
Identifiers
What 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.