ReviewCurrent neurology and neuroscience reports2017
Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.
Review in Current neurology and neuroscience reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Exploring role of genetics in diagnosing, management, and outcome of infantile epilepsy: A case series of three interesting cases.Journal of family medicine and primary care · 2025Article
- A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy.Internal medicine (Tokyo, Japan) · 2025Article
- Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort.Frontiers in neurology · 2023Article
- Advances toward precision therapeutics for developmental and epileptic encephalopathies.Frontiers in neuroscience · 2023Review
- Concise Review: Stem Cell Models ofCells · 2022Review
- Review
- Screening Platforms for Genetic Epilepsies-Zebrafish, iPSC-Derived Neurons, and Organoids.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Dyshomeostatic modulation of CaeLife · 2021Article
- Recent advances in epilepsy genomics and genetic testing.F1000Research · 2020Review
- Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.JAMA neurology · 2019Article
- A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.American journal of human genetics · 2018Article
- [Trends and expectations the research on the molecular background of epileptic encephalopathies - state of the art in 2017].Developmental period medicineReview
- Modeling Pediatric Epilepsy Through iPSC-Based Technologies.Epilepsy currentsArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
Epileptic encephalopathies account for a large proportion of the intractable early-onset epilepsies and are characterized by frequent seizures and poor developmental outcome. The epileptic encephalopathies can be loosely divided into two related groups of named syndromes. The first comprises epilepsies where continuous EEG changes directly result in cognitive and developmental dysfunction. The second includes patients where cognitive impairment is present at seizure onset and is due to the underlying etiology but the epileptic activity may then worsen the cognitive abilities over time. Recent, large-scale exome studies have begun to establish the genetic architecture of the epileptic encephalopathies, resulting in a re-consideration of the boundaries of these named syndromes. The emergence of this genetic architecture has lead to three main pathophysiological concepts to provide a mechanistic framework for these disorders. In this article, we will review the classic syndromes, the most significant genetic findings, and relate both to the pathophysiological understanding of epileptic encephalopathies.
Indexed as
Identifiers
28229394What 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.