Evidence map›Paper›PMID 41319129›Full record

ArticleEpilepsia2026

Genetic risk factor identification for common epilepsies guided by integrative omics data analysis.

Ashwini Mushunuri, Oluyomi Adesoji, Roland Krause, Patrick May, Holger Lerche, Albert Becker, Daniela Grimm, International League Against Epilepsy Consortium on Complex Epilepsies, Michael Nothnagel, Herbert Schulz

Abstract read
In one paragraph

Article in Epilepsia, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Ashwini MushunuriDepartment of Microgravity and Translational Regenerative Medicine, Medical Faculty, University Hospital Magdeburg, Otto von Guericke University, Magdeburg, Germany.ORCID https://orcid.org/0009-0000-7756-5876
Oluyomi AdesojiCologne Center for Genomics, University of Cologne, Cologne, Germany.ORCID https://orcid.org/0000-0002-8583-7170
Roland KrauseLuxembourg Center for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.ORCID https://orcid.org/0000-0001-9938-7126
Patrick MayLuxembourg Center for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.ORCID https://orcid.org/0000-0001-8698-3770
Holger LercheDepartment of Epileptology, Eberhard Karls University, Tübingen, Germany.ORCID https://orcid.org/0000-0002-1783-8710
Albert BeckerInstitute for Cellular Neurosciences II, Medical Faculty, University of Bonn, Bonn, Germany.ORCID https://orcid.org/0000-0003-2661-3705
Daniela GrimmDepartment of Microgravity and Translational Regenerative Medicine, Medical Faculty, University Hospital Magdeburg, Otto von Guericke University, Magdeburg, Germany.ORCID https://orcid.org/0000-0002-4991-3105
International League Against Epilepsy Consortium on Complex Epilepsies
Michael NothnagelCologne Center for Genomics, University of Cologne, Cologne, Germany.ORCID https://orcid.org/0000-0001-8305-7114
Herbert SchulzDepartment of Microgravity and Translational Regenerative Medicine, Medical Faculty, University Hospital Magdeburg, Otto von Guericke University, Magdeburg, Germany.ORCID https://orcid.org/0000-0002-0226-964X

Funding

The German Research Foundation (DFG) and the Luxembourg Fond Nationale de Recherche (FNR) as a part of the research unit FOR-2715 BE2078/10-2The German Research Foundation (DFG) and the Luxembourg Fond Nationale de Recherche (FNR) as a part of the research unit FOR-2715 BE2078/5-1The German Research Foundation (DFG) and the Luxembourg Fond Nationale de Recherche (FNR) as a part of the research unit FOR-2715 INTER/DFG/21/16394868 MechEPI2The German Research Foundation (DFG) and the Luxembourg Fond Nationale de Recherche (FNR) as a part of the research unit FOR-2715 Le1030/16-2The German Research Foundation (DFG) and the Luxembourg Fond Nationale de Recherche (FNR) as a part of the research unit FOR-2715 NO755/13-1The German Research Foundation (DFG) and the Luxembourg Fond Nationale de Recherche (FNR) as a part of the research unit FOR-2715 NO755/6-1The German Research Foundation (DFG) and the Luxembourg Fond Nationale de Recherche (FNR) as a part of the research unit FOR-2715 SHU3585/1.1
6 · The paper itself

Abstract

objectiveGenetic generalized epilepsies (GGEs) comprise the most common genetically determined epilepsy syndromes, following a complex mode of inheritance. Although many important common and rare genetic factors causing or contributing to these epilepsies have been identified in the past decades, many features of the genetic architecture are still insufficiently understood. This study integrates genome-wide association study (GWAS) data from the International League Against Epilepsy Consortium on Complex Epilepsies with transcriptome-wide association studies to identify genes whose genetically regulated expression levels are associated with epilepsy.

methodsTo achieve this, we used multiple computational approaches, including MAGMA, a tool for gene analysis of GWAS data, and its derivatives E-MAGMA and H-MAGMA, to improve gene mapping accuracy by utilizing tissue-specific expression and chromatin interaction data. Furthermore, we developed ME-MAGMA to incorporate methylation quantitative trait loci data, providing insights into epigenetic factors.

resultsWe identified a total of 897 false discovery rate-corrected (<.05) candidates. These include voltage-gated calcium channels, voltage-gated potassium channels, and other genes such as NPRL2, CACNB2, and KCNT1 associated with epilepsy pathogenesis that act as key players in neuronal communication and signaling in the brain. SIGNIFICANCE: In this study, we propose new candidate genes to expand the dataset of potential epilepsy-causing genes. Further research on these genes may enhance our understanding of the complex regulatory mechanisms underlying GGE and other types of epilepsy, potentially revealing targets for therapeutic intervention.

Indexed as

EpilepsyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMultiomicsQuantitative Trait LociRisk FactorsTranscriptomeepigeneticsepilepsygenetic generalized epilepsyGWASILAEMAGMAtranscriptomics

Identifiers

PMID41319129
PMCPMC13007835

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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.