Evidence map›Paper›PMID 37653029›Full record

SynthesisNature genetics2023

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.

International League Against Epilepsy Consortium on Complex Epilepsies

Open access · hybridAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 144 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
144citing papers in PubMed, 6 pooled it
60.1field-weighted citation impact, top 1% of its field
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

144 citing papers in PubMed, 6 syntheses or guidelines pooled it, 189 citations in OpenAlex.

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  16. Polygenic risk scores in neurological disorders: restless legs syndrome as a translational model.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
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84 more citing papers are in PubMed but not listed here.

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

1 author at 20 institutions in 31 countries.

International League Against Epilepsy Consortium on Complex Epilepsies
Broad Institute · USChildren's Hospital of Philadelphia · USUniversity of Bonn · DEIstituto delle Scienze Neurologiche di Bologna · ITIstituto Giannina Gaslini · ITNational Hospital for Neurology and Neurosurgery · GBGoethe University Frankfurt · DEMeyer Children's Hospital · ITHertie Institute for Clinical Brain Research · DEChristian-Albrechts-Universität zu Kiel · DEFondazione IRCCS Istituto Neurologico Carlo Besta · ITRoyal College of Surgeons in Ireland · IEThe University of Melbourne · AUIstanbul University · TRUniversity Medical Center Utrecht · NLUniversity of Hong Kong · HKVanderbilt University Medical Center · USCleveland Clinic · USCyprus Institute of Neurology and Genetics · CYdeCODE Genetics (Iceland) · IS

Funding

Center for Common Disease GeneticsUM1HG008895 · NHGRI · BROAD INSTITUTE, INC. · PI DALY, MARK JOSEPH, GABRIEL, STACEY · 2016 to 2020
$111.2M
Whole Genome Sequencing for Schizophrenia and Bipolar Disorder in the GPCU01MH105641 · NIMH · BROAD INSTITUTE, INC. · PI MCCARROLL, STEVEN ANDREW · 2014 to 2018
$13.6M
Overall: Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center at VanderbiltP50HD103537 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Jeffrey L Neul · 2020 to 2026
$10.3M
Powering whole genome sequence-based genetic discovery for common human diseases- Extended 2021-2022.U01HG009088 · NHGRI · HARVARD SCHOOL OF PUBLIC HEALTH · PI LIN, XIHONG, NEALE, BENJAMIN MICHAEL · 2016 to 2021
$5.1M
ClinGen Expert Curation Panel for the EpilepsiesU24NS120854 · NINDS · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI Ingo Helbig, HEATHER C. MEFFORD · 2021 to 2026
$2.0M
Medical Research Council MR/S02638X/1NHGRI NIH HHS U01 HG009088NHGRI NIH HHS UM1 HG008895NICHD NIH HHS P50 HD103537NIMH NIH HHS U01 MH105641NINDS NIH HHS U24 NS120854Wellcome Trust
6 · The paper itself

Abstract

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment.

Indexed as

EpilepsyGenome-Wide Association StudyBrainHumansNeurons

Identifiers

PMID37653029
PMCPMC10484785
OpenAlexW4386332807

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.