ReviewEpileptic disorders : international epilepsy journal with videotape2023
ILAE Genetics Literacy series: Progressive myoclonus epilepsies.
Review in Epileptic disorders : international epilepsy journal with videotape, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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.
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
11 citing papers in PubMed, 20 citations in OpenAlex.
- Polypharmacy's paradox: accelerated decline in a rare case of Lafora body disease.Postepy psychiatrii neurologii · 2026Article
- Recent advances in clinical neurophysiology of myoclonus.Clinical parkinsonism & related disorders · 2026Article
- Autosomal dominant Kufs disease in a Georgian adult woman: A case report.Epilepsy & behavior reports · 2025Article
- Familial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice.Epilepsia · 2025Review
- Assessing the diagnostic performance of investigations in pediatric myoclonic epilepsies: A retrospective cohort study.Epilepsia · 2025Article
- Precision therapies for genetic epilepsies in 2025: Promises and pitfalls.Epilepsia open · 2025Article
- Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment.Current neurology and neuroscience reports · 2025Review
- CLN6-related continuum phenotype caused by aberrant splicing.Epilepsia open · 2025Article
- Identification of a pathogenic NHLRC1 variant in a consanguineous Pakistani family affected with severe and rapidly progressive Lafora disease.Acta epileptologica · 2025Article
- Expanding the spectrum ofFrontiers in genetics · 2025Article
- ILAE Genetics Literacy series: Progressive myoclonus epilepsies.Epileptic disorders : international epilepsy journal with videotape · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 3 countries.
Funding
Abstract
Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterized by the development of progressively worsening myoclonus, ataxia, and seizures. A molecular diagnosis can now be established in approximately 80% of individuals with PME. Almost fifty genetic causes of PME have now been established, although some remain extremely rare. Herein, we provide a review of clinical phenotypes and genotypes of the more commonly encountered PMEs. Using an illustrative case example, we describe appropriate clinical investigation and therapeutic strategies to guide the management of this often relentlessly progressive and devastating epilepsy syndrome. This manuscript in the Genetic Literacy series maps to Learning Objective 1.2 of the ILAE Curriculum for Epileptology (Epileptic Disord. 2019;21:129).
Indexed as
Identifiers
What 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.