ArticleNature communications2018
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 244 papers, 14 of them syntheses that pooled it.
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
244 citing papers in PubMed, 14 syntheses or guidelines pooled it, 499 citations in OpenAlex.
- Genetic testing for diagnosing neurodevelopmental disorders and epilepsy: a systematic review and meta-analysis.Systematic reviews · 2025Pooled it
- Genome-wide association meta-analyses of drug-resistant epilepsy.EBioMedicine · 2025Pooled it
- Exploring the Relationship Between Antipsychotic Drug Target Genes and Epilepsy: Evidence From Food and Drug Administration Adverse Event Reporting System Database and Mendelian Randomization.Brain and behavior · 2025Pooled it
- Multi-ancestry genome-wide meta-analysis with 472,819 individuals identifies 32 novel risk loci for psoriasis.Journal of translational medicine · 2025Pooled it
- The impact of serum magnesium and calcium on the risk of epilepsy: A mendelian randomization study.CNS neuroscience & therapeutics · 2023Pooled it
- Causal relationship between gastroesophageal reflux disease, Barrett's esophagus, and epilepsy: A bidirectional Mendelian randomization study.Brain and behavior · 2023Pooled it
- Alzheimer Disease and Epilepsy: A Mendelian Randomization Study.Neurology · 2023Pooled it
- Causal effect of psychiatric disorders on epilepsy: A two-sample Mendelian randomization study.Brain and behavior · 2023Pooled it
- Mendelian randomization study shows a causal effect of asthma on epilepsy risk.Frontiers in immunology · 2023Pooled it
- Assessing the causal association between human blood metabolites and the risk of epilepsy.Journal of translational medicine · 2022Pooled it
- Transethnic meta-analysis of exome-wide variants identifies new loci associated with male-specific metabolic syndrome.Genes & genomics · 2022Pooled it
- Genetic variants associated with longitudinal changes in brain structure across the lifespan.Nature neuroscience · 2022Pooled it
- Potential Pleiotropic Genes and Shared Biological Pathways in Epilepsy and Depression Based on GWAS Summary Statistics.Computational intelligence and neuroscience · 2022Pooled it
- Analysis of GABRG2 C588T polymorphism in genetic epilepsy and evaluation of GABRG2 in drug treatment.Clinical and translational science · 2021Pooled it
- Shared Genetic Architecture Between Common Epilepsies and Subcortical Brain Volumes Is Associated With Cognition and Mental Health.CNS neuroscience & therapeutics · 2026Article
- Genetic Diagnosis in Epilepsy: Implications for Clinical Management.Current neurology and neuroscience reports · 2026Review
- Integrated proteomic, transcriptomic, and epigenomic profiling identifies SRA1 as a novel therapeutic target for postpartum depression.Npj mental health research · 2026Article
- Transfer learning enhances clinical utility of polygenic scores with small, phenotypically refined cohorts.Genome research · 2026Article
- Multi-Omics Dissection of the Shared Genetic Architecture Between Sleep Traits and Epilepsy.Biology · 2026Article
- Deciphering cell type-specific causal genetic effects on brain imaging-derived phenotypes and disorders with single-cell Mendelian randomization.PLoS computational biology · 2026Article
184 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 20 institutions in 20 countries.
Funding
Abstract
The epilepsies affect around 65 million people worldwide and have a substantial missing heritability component. We report a genome-wide mega-analysis involving 15,212 individuals with epilepsy and 29,677 controls, which reveals 16 genome-wide significant loci, of which 11 are novel. Using various prioritization criteria, we pinpoint the 21 most likely epilepsy genes at these loci, with the majority in genetic generalized epilepsies. These genes have diverse biological functions, including coding for ion-channel subunits, transcription factors and a vitamin-B6 metabolism enzyme. Converging evidence shows that the common variants associated with epilepsy play a role in epigenetic regulation of gene expression in the brain. The results show an enrichment for monogenic epilepsy genes as well as known targets of antiepileptic drugs. Using SNP-based heritability analyses we disentangle both the unique and overlapping genetic basis to seven different epilepsy subtypes. Together, these findings provide leads for epilepsy therapies based on underlying pathophysiology.
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.