AI Article Synopsis
- Inherited metabolic epilepsies (IMEs) are genetic disorders that primarily present with seizures, and some can be treated with specific therapies if diagnosed early.
- Current management mainly focuses on symptom relief, but certain targeted treatments can significantly reduce seizures and enhance neurodevelopmental outcomes if initiated soon after symptom onset.
- These targeted treatments vary and can include specialized diets, vitamins, organic compound supplements, synthetic drugs, and innovative genetic therapies that aim to correct the underlying biochemical dysfunctions.
Article Abstract
Inherited metabolic epilepsies (IMEs) represent inherited metabolic disorders predominately presenting with seizures. While most IMEs are currently managed with symptomatic and supportive therapies, some are amenable to disorder-specific targeted treatments. In most cases, these treatments are effective only if given in a narrow time window early in the lives of affected patients. Hence, prompt recognition of treatable inherited metabolic epilepsies at an early age and as soon as symptoms appear has paramount importance. Herein, we provide an overview of inherited metabolic epilepsies, which presently have established targeted treatments showing clinical efficacy in reducing seizure burden and improving neurodevelopmental outcomes. These therapeutic modalities range from specific diets, vitamins, and supplementation of organic compounds to synthetic pharmacological agents and novel genetic-based therapies that alter the biochemical pathways of these disorders at the cellular or molecular level, steering them to their normal function.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.yebeh.2024.109621 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!