ReviewEpilepsia open2025
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes.
Review in Epilepsia open, 2025. 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.
- Identification of a Novel homozygous Splice-Site Deletion inPakistan journal of medical sciences · 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
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self-limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities. Advances in genetic research over the past decade have uncovered novel mechanisms underlying these disorders, including single-gene mutations, copy number variations (CNVs), and non-coding repeat expansions. These findings not only deepen our understanding of their pathophysiology but also highlight potential avenues for precision medicine. This review provides a comprehensive overview of myoclonic epilepsies linked to pathogenic gene variants, exploring genetic mechanisms and discussing their clinical implications. PLAIN LANGUAGE SUMMARY: In this work, we describe genetic epilepsies mainly characterized by myoclonic seizures, their genetic defects and disease mechanisms, and considerations of precision medicine treatment.
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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.