ReviewMolecular syndromology2016
Understanding Genotypes and Phenotypes in Epileptic Encephalopathies.
Review in Molecular syndromology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
58 citing papers in PubMed, 1 synthesis or guideline pooled it, 115 citations in OpenAlex.
- Pooled it
- Review
- The ketogenic diet alters microbiome-metabolome profiles to improve West syndrome therapy.Pediatric investigation · 2026Article
- National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.Journal of medical genetics · 2024Article
- Article
- Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood.Epilepsia open · 2024Article
- A Zebrafish-Based Platform for High-Throughput Epilepsy Modeling and Drug Screening in F0.International journal of molecular sciences · 2024Article
- Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue.Neurology · 2024Observational
- Splice-switching antisense oligonucleotides for pediatric neurological disorders.Frontiers in molecular neuroscience · 2024Review
- Article
- Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.Annals of neurology · 2023Observational
- Pathogenic variants of human GABRA1 gene associated with epilepsy: A computational approach.Heliyon · 2023Article
- Distinct Features of Interictal Activity Predict Seizure Localization and Burden in a Mouse Model of Childhood Epilepsy.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.Epilepsia open · 2023Review
- A disease concept model for STXBP1-related disorders.Epilepsia open · 2023Article
- Article
- The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population.European journal of human genetics : EJHG · 2023Article
- Review
- A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.American journal of human genetics · 2022Article
- A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family.BMC medical genomics · 2022Article
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 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epileptic encephalopathies are severe often intractable seizure disorders where epileptiform abnormalities contribute to a progressive disturbance in brain function. Often, epileptic encephalopathies start in childhood and are accompanied by developmental delay and various neurological and non-neurological comorbidities. In recent years, this concept has become virtually synonymous with a group of severe childhood epilepsies including West syndrome, Lennox-Gastaut syndrome, Dravet syndrome, and several other severe childhood epilepsies for which genetic factors are increasingly recognized. In the last 5 years, the field has seen a virtual explosion of gene discovery, raising the number of bona fide genes and possible candidate genes for epileptic encephalopathies to more than 70 genes, explaining 20-25% of all cases with severe early-onset epilepsies that had otherwise no identifiable causes. This review will focus on the phenotypic variability as a characteristic aspect of genetic epilepsies. For many genetic epilepsies, the phenotypic presentation can be broad, even in patients with identical genetic alterations. Furthermore, patients with different genetic etiologies can have seemingly similar clinical presentations, such as in Dravet syndrome. While most patients carry mutations in
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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.