ReviewEpilepsia open2024
Inherited metabolic epilepsies-established diseases, new approaches.
Review in Epilepsia open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
- Holistic management of epilepsy in adults with intellectual development disorders.Epileptic disorders : international epilepsy journal with videotape · 2026Article
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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity. These characteristics make it particularly challenging to establish their targeted therapies, and many of the IMEs are treated nowadays only symptomatically and supportively. However, owing to immense molecular and genetic progress in the last decades, important features of their pathomechanisms have been elucidated. This has led to advancements in the development of novel diagnostic approaches and specific therapies for a considerable number of these unique disorders. This review provides an overview of the broad approach to the diagnosis and management of IMEs, along with their eminent and new individual treatment options, ranging from dietary therapies and vitamins to enzyme and gene replacement therapies. PLAIN LANGUAGE SUMMARY: Inherited metabolic disorders (IMDs) in which epilepsy is a main symptom are considered inherited metabolic epilepsies (IMEs). It is challenging to develop targeted therapies for IMEs since they are rare and individually different in characteristics. Therefore, many of the IMEs are currently treated only symptomatically. However, scientific progress in the last decades led to the creation of specific treatments for many of these unique disorders. This review provides an overview of the approach to the diagnosis and management of IMEs, including the available newer therapeutic modalities.
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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.