Evidence map›Paper›PMID 40085371›Full record

ReviewMetabolic brain disease2025

Metabolic pathways and genes involved in treatable and non-treatable metabolic epilepsies. A comprehensive review and metabolic pathway analysis.

Athanasia Sesse, Paris Ladias, Charilaos Kostoulas, Dimitrios Chatzistefanidis, Ioannis Georgiou, Sofia Markoula

Abstract readReview
In one paragraph

Review in Metabolic brain disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Athanasia SesseLaboratory of Medical Genetics in Clinical Practice, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina, 45110, Greece.ORCID 0009-0003-2434-6217
Paris LadiasLaboratory of Medical Genetics in Clinical Practice, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina, 45110, Greece.ORCID 0000-0002-8752-8910
Charilaos KostoulasLaboratory of Medical Genetics in Clinical Practice, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina, 45110, Greece.ORCID 0000-0002-0769-0257
Dimitrios ChatzistefanidisDepartment of Neurology, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina, 45110, Greece.ORCID 0000-0002-1021-6273
Ioannis GeorgiouLaboratory of Medical Genetics in Clinical Practice, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina, 45110, Greece.ORCID 0000-0002-0308-5703
Sofia MarkoulaDepartment of Neurology, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina, 45110, Greece. smarkoula@uoi.gr.ORCID 0000-0001-8958-9090

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

More than 600 different metabolic disorders can lead to a clinical picture, where seizures are a main neurological manifestation, either as the primary clinical finding or as a part of a more complex phenotype. For these metabolic disorders, the term "metabolic epilepsy" is commonly used. About one in six metabolic epilepsies is treatable, constituting a well-defined subset of metabolic disorders, which is amenable to treatment targeting the primary cause of the seizures and reducing or preventing associated complications. However, the majority of metabolic disorders currently lack effective treatment, making them a major challenge both in clinical practice and in research. Herein, we provide an overview of both treatable and non-treatable metabolic epilepsies and discuss our current understanding of these disorders. We also perform pathway analysis in order to compare the pathways in which the genes associated with treatable and non-treatable metabolic epilepsies take part. This approach may orientate the research to particular pathways and explore novel treatment algorithms.

Indexed as

EpilepsyMetabolic DiseasesMetabolic Networks and PathwaysAnimalsHumansInborn errors of metabolismMetabolic epilepsyNeurometabolicPathway analysisSeizuresTreatment

Identifiers

PMID40085371
PMCPMC11909059

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

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.