ReviewBrain sciences2020
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Review in Brain sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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
10 citing papers in PubMed, 13 citations in OpenAlex.
- POLG-related disorders: Clinical and molecular Spectrum in the Saudi population.Molecular genetics and metabolism reports · 2026Article
- Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature.Epileptic disorders : international epilepsy journal with videotape · 2025Review
- Article
- Article
- POLG epilepsy presenting as new-onset refractory status epilepticus (NORSE) in pregnancy.Practical neurology · 2025Article
- Differentiating rhythmic high-amplitude delta with superimposed (poly) spikes from extreme delta brushes: limitations of standardized nomenclature and implications for patient management.World journal of pediatrics : WJP · 2024Review
- Article
- A new pathogenic POLG variant.Molecular genetics and metabolism reports · 2022Article
- Clinico-Genetic Spectrum of POLG1 Mutation Carriers from India.Journal of molecular neuroscience : MN · 2022Article
- Seizure Semiology, EEG, and Imaging Findings in Epilepsy Secondary to Mitochondrial Disease.Frontiers in neurology · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe clinical spectrum associated with
methodsThe articles for review were identified through a systematic research on PubMed and EMBASE databases from January 2003 to April 2020, searching for the terms "Epilepsy AND
resultsForty-eight articles were selected for review, which included 195 patients. Two main peaks of age at epilepsy onset were found: at ages 1 and 13 years. The most frequent seizure type was myoclonic. The occurrence of Status Epilepticus was reported in 46.4% of cases. Epileptiform and slow abnormalities were most frequently seen over occipital regions. Brain Magnetic Resonance Imaging (MRI) revealed increased T2 signal intensities in thalamic regions. Genetic analysis revealed a prevalence of A467T, W748S and G848S (74.2% of patients) mutations. Survival at 5 years was estimated at very low levels (30.2% of patients).
conclusionIn this review, we included cases with both pediatric and adult epilepsy onset. The analysis of data regarding prognosis showed that survival is related to age at onset of epilepsy.
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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.