SynthesisPloS one2017
Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.
Synthesis in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 32 citations in OpenAlex.
- Pooled it
- A systematic review of resting-state and task-based fmri in juvenile myoclonic epilepsy.Brain imaging and behavior · 2022Pooled it
- Transcriptional and neurotransmitter signatures associated with regional gray matter alterations in juvenile myoclonic epilepsy.Frontiers in molecular neuroscience · 2026Article
- Juvenile Myoclonic Epilepsy Imaging Endophenotypes and Relationship With Cognition and Resting-State EEG.Human brain mapping · 2025Article
- Women With Genetic Epilepsies.Neurology. Genetics · 2025Review
- Association of variants in the ABCB1, CYP2C19 and CYP2C9 genes for Juvenile Myoclonic Epilepsy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy.NPJ genomic medicine · 2023Article
- Photo-Dependent Reflex Seizures-A Scoping Review with Proposal of Classification.Journal of clinical medicine · 2022Article
- Imaging Genetics in Epilepsy: Current Knowledge and New Perspectives.Frontiers in molecular neuroscience · 2022Review
- Analysis of Clinical Characteristics, Background, and Paroxysmal Activity in EEG of Patients with Juvenile Myoclonic Epilepsy.Brain sciences · 2021Article
- Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients.BioMed research international · 2021Article
- Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.International journal of molecular sciences · 2020Review
- Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report.Medicine · 2019Article
- Juvenile myoclonic epilepsy has hyper dynamic functional connectivity in the dorsolateral frontal cortex.NeuroImage. Clinical · 2019Article
- Association of GABAA Receptor Gene with Epilepsy Syndromes.Journal of molecular neuroscience : MN · 2018Article
- DNA methylation of the BRD2 promoter is associated with juvenile myoclonic epilepsy in Caucasians.Epilepsia · 2018Article
- Article
- Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.PloS one · 2018Article
- Safety and Efficacy of Clonazepam in the Treatment of Juvenile Myoclonic Epilepsy: A Meta-Analysis.Journal of pharmacy & bioallied sciencesArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSeveral genetic association investigations have been performed over the last three decades to identify variants underlying Juvenile Myoclonic Epilepsy (JME). Here, we evaluate the accumulating findings and provide an updated perspective of these studies. METHODOLOGY: A systematic literature search was conducted using the PubMed, Embase, Scopus, Lilacs, epiGAD, Google Scholar and Sigle up to February 12, 2016. The quality of the included studies was assessed by a score and classified as low and high quality. Beyond outcome measures, information was extracted on the setting for each study, characteristics of population samples and polymorphisms.
resultsFifty studies met eligibility criteria and were used for data extraction. With a single exception, all studies used a candidate gene approach, providing data on 229 polymorphisms in or near 55 different genes. Of variants investigating in independent data sets, only rs2029461 SNP in GRM4, rs3743123 in CX36 and rs3918149 in BRD2 showed a significant association with JME in at least two different background populations. The lack of consistent associations might be due to variations in experimental design and/or limitations of the approach.
conclusionsThus, despite intense research evidence established, specific genetic variants in JME susceptibility remain inconclusive. We discussed several issues that may compromise the quality of the results, including methodological bias, endophenotype and potential involvement of epigenetic factors. PROSPERO REGISTRATION NUMBER: CRD42016036063.
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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.