ArticlebioRxiv : the preprint server for biology2025
ASSOCIATIONS BETWEEN EPILEPSY-RELATED POLYGENIC RISK AND BRAIN MORPHOLOGY IN CHILDHOOD.
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Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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56 authors.
Alexander NgoMontreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.ORCID 0000-0002-8999-9388
Lang LiuMontreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.ORCID 0000-0002-0348-2258
Sara LarivièreCentre de Recherche du CHUS, Université de Sherbrooke, Sherbrooke, Québec, Canada.ORCID 0000-0001-5701-1307
Valeria KebetsMontreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.ORCID 0000-0003-1707-7437
Serena FettMontreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
Clara F WeberMontreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.ORCID 0000-0002-0836-8833
Jessica RoyerMontreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.ORCID 0000-0002-4448-8998
Eric YuMontreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.ORCID 0000-0003-3525-4564
Raúl Rodríguez-CrucesMontreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.ORCID 0000-0002-2917-1212
Zhiqiang ZhangDepartment of Medical Imaging, Nanjing University School of Medicine, Nanjing, China.ORCID 0000-0002-3993-7330
Leon Qi Rong OoiCentre for Sleep and Cognition, National University of Singapore, Singapore, Singapore.ORCID 0000-0002-3546-4580
B T Thomas YeoCentre for Sleep and Cognition, National University of Singapore, Singapore, Singapore.ORCID 0000-0002-0119-3276
Birgit FrauscherDepartment of Neurology, Duke University, Durham, United States.ORCID 0000-0001-6064-1529
Casey PaquolaInstitute of Neuroscience and Medicine (INM-7), Forschungszentrum Ju lich, Ju lich, Germany.ORCID 0000-0002-0190-4103
Maria Eugenia CaligiuriNeuroscience Research Center, University Magna Græcia, Catanzaro, Italy.ORCID 0000-0002-2030-5552
Antonio GambardellaInstitute of Neurology, University Magna Græcia, Catanzaro, Italy.ORCID 0000-0001-7384-3074
Luis ConchaInstitute of Neurobiology, Universidad Nacional Autónoma de México, Querétaro, México.ORCID 0000-0002-7842-3869
Simon S KellerInstitute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, United Kingdom.ORCID 0000-0001-5247-9795
Fernando CendesDepartment of Neurology, University of Campinas-UNICAMP, Campinas, São Paulo, Brazil.ORCID 0000-0001-9336-9568
Clarissa L YasudaDepartment of Neurology, University of Campinas-UNICAMP, Campinas, São Paulo, Brazil.ORCID 0000-0001-9084-7173
Leonardo BonilhaDepartment of Neurology, Emory University, Atlanta, United States.ORCID 0000-0002-6153-8942
Ezequiel GleichgerrchtDepartment of Neurology, Medical University of South Carolina, Charleston, SC, USA.ORCID 0000-0002-4212-4146
Niels K FockeDepartment of Neurology, University of Medicine Göttingen, Göttingen, Germany.ORCID 0000-0001-5486-6289
Raviteja KotikalapudiDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.ORCID 0000-0003-4604-3367
Terence J O'BrienDepartment of Neuroscience, Central Clinical School, Alfred Hospital, Monash University, Melbourne, Melbourne, Australia.ORCID 0000-0002-7198-8621
Benjamin SinclairDepartment of Neuroscience, Central Clinical School, Alfred Hospital, Monash University, Melbourne, Melbourne, Australia.ORCID 0009-0007-3009-3761
Lucy VivashDepartment of Neuroscience, Central Clinical School, Alfred Hospital, Monash University, Melbourne, Melbourne, Australia.ORCID 0000-0002-1182-0907
Patricia M DesmondDepartments of Medicine and Radiology, The Royal Melbourne Hospital, University of Melbourne, Parkville, Australia.ORCID 0000-0002-4803-6323
Elaine LuiDepartments of Medicine and Radiology, The Royal Melbourne Hospital, University of Melbourne, Parkville, Australia.
Anna Elisabetta VaudanoNeurology Unit, OCB Hospital, Azienda Ospedaliera-Universitaria, Modena, Italy.ORCID 0000-0002-6280-7526
Stefano MelettiNeurology Unit, OCB Hospital, Azienda Ospedaliera-Universitaria, Modena, Italy.ORCID 0000-0003-0334-539X
Reetta KälviäinenEpilepsy Center, Neuro Center, Kuopio University Hospital, Member of the European Reference Network for Rare and Complex Epilepsies EpiCARE, Kuopio, Finland.
Hamid Soltanian-ZadehControl and Intelligent Processing Center of Excellence (CIPCE), School of Electrical and Computer Engineering, University of Tehran, Tehran, Iran.ORCID 0000-0002-7302-6856
Gavin P WinstonDivision of Neurology, Department of Medicine, Queen's University, Kingston, Ontario, Canada.ORCID 0000-0001-9395-1478
Vijay K TiwariWellcome-Wolfson Institute for Experimental Medicine, School of Medicine, Dentistry & Biomedical Science, Queens University Belfast, Belfast, United Kingdom.ORCID 0000-0003-0292-6635
Barbara A K KreilkampDepartment of Neurology, University of Medicine Göttingen, Göttingen, Germany.ORCID 0000-0001-6881-5191
Matteo LengeChild Neurology Unit and Laboratories, Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy.ORCID 0000-0003-2848-621X
Renzo GuerriniChild Neurology Unit and Laboratories, Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy.ORCID 0000-0002-7272-7079
Khalid HamandiThe Welsh Epilepsy Unit, Department of Neurology, University Hospital of Whales, Cardiff, United Kingdom.ORCID 0000-0001-7116-262X
Theodor RüberDepartment of Epileptology, University of Bonn Medical Center, Bonn, Germany.ORCID 0000-0002-6180-7671
Tobias BauerDepartment of Epileptology, University of Bonn Medical Center, Bonn, Germany.ORCID 0000-0002-0555-6214
Orrin DevinskyDepartment of Neurology, NYU Grossman School of Medicine, New York, United States.ORCID 0000-0003-0044-4632
Pasquale StrianoIRCCS Istituto Giannina Gaslini, Genova, Italy.ORCID 0000-0002-6065-1476
Erik KaestnerDepartment of Radiation Medicine and Applied Sciences, University of California San Diego, La Jolla, United States.ORCID 0000-0003-3252-5365
Sean N HattonDepartment of Neurosciences, Center for Multimodal Imaging and Genetics, University of California San Diego, La Jolla, United States.ORCID 0000-0002-9149-8726
Lorenzo CaciagliDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.ORCID 0000-0001-7189-9699
Matthias KirschnerDepartment of Psychiatry, Psychotherapy and Psychosomatics, Psychiatric Hospital University of Zurich, Zurich, Switzerland.ORCID 0000-0002-9486-1439
John S DuncanDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.ORCID 0000-0002-1373-0681
Paul M ThompsonImaging Genetics Center, Mark & Mary Stevens Institute for Neuroimaging and Informatics, Keck School of Medicine, University of Southern California, Los Angeles, United States.ORCID 0000-0002-4720-8867
ENIGMA Consortium Epilepsy Working Group
Carrie R McDonaldDepartment of Radiation Medicine and Applied Sciences, University of California San Diego, La Jolla, United States.
Sanjay M SisodiyaDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.ORCID 0000-0002-1511-5893
Neda BernasconiMontreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
Andrea BernasconiMontreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
Ziv Gan-OrMontreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.ORCID 0000-0003-0332-234X
Boris C BernhardtMontreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.ORCID 0000-0001-9256-6041
Funding
Implementing a Maternal health and PRegnancy Outcomes Vision for Everyone (IMPROVE)UL1TR002378 · NCATS · EMORY UNIVERSITY · PI Andres J Garcia, Elizabeth O. Ofili · 2017 to 2026
$92.1MInstitutional Career Development CoreKL2TR002381 · NCATS · EMORY UNIVERSITY · PI HENRY M BLUMBERG, Anandi Nayan Sheth · 2017 to 2026
$14.1MTR&D3: Intrinsic Surface MappingP41EB015922 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI TOGA, ARTHUR W · 2012 to 2022
$14.1MTraining U54EB020403 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2014 to 2018
$10.1MBRain Aging and Cognition in Epilepsy (BRACE): A longitudinal investigationof vascular, genetic, and biomarker risk profiles in elderly patients with epilepsyR01NS120976 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CARRIE R MCDONALD · 2021 to 2026
$4.1MLifespan Epilepsy Network Signatures (LENS): Leveraging ENIGMA-Epilepsy to Predict Cognitive Aging and Surgical OutcomesR01NS122827 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CARRIE R MCDONALD · 2021 to 2026
$3.8MPredicting Epilepsy Surgery Outcomes Using Neural Network ArchitectureR01NS110347 · NINDS · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI BONILHA, LEONARDO F, DRANE, DANIEL L · 2019 to 2023
$3.6MDefining the Epileptogenic Network and Identifying Which Components Generate SeizuresR01NS106957 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Richard Staba · 2018 to 2026
$3.4MMultimodal imaging of memory in epilepsy from whole brain networks to local neuronal responses: Implications for surgical decision-makingR01NS124585 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI MCDONALD, CARRIE R · 2022 to 2025
$3.3MA mega-analysis framework for delineating autism neurosubtypesR01MH133334 · NIMH · CHILD MIND INSTITUTE, INC. · PI Adriana Di Martino · 2023 to 2026
$2.9MPrediction of seizure lateralization and postoperative outcome through the use of deep learning applied to multi-site MRI/DTI data: An ENIGMA-Epilepsy studyR21NS107739 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BONILHA, LEONARDO F, MCDONALD, CARRIE R · 2019 to 2019
$444kNCATS NIH HHS KL2 TR002381NCATS NIH HHS UL1 TR002378NIBIB NIH HHS P41 EB015922NIBIB NIH HHS U54 EB020403NIMH NIH HHS R01 MH133334NINDS NIH HHS R01 NS106957NINDS NIH HHS R01 NS110347NINDS NIH HHS R01 NS120976NINDS NIH HHS R01 NS122827NINDS NIH HHS R01 NS124585NINDS NIH HHS R21 NS107739
Abstract
Temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) is associated with a complex genetic architecture, but the translation from genetic risk factors to brain vulnerability remains unclear. Here, we examined associations between epilepsy-related polygenic risk scores for HS (PRS-HS) and brain structure in a large sample of neurotypical children, and correlated these signatures with case-control findings in in multicentric cohorts of patients with TLE-HS. Imaging-genetic analyses revealed PRS-related cortical thinning in temporo-parietal and fronto-central regions, strongly anchored to distinct functional and structural network epicentres. Compared to disease-related effects derived from epilepsy case-control cohorts, structural correlates of PRS-HS mirrored atrophy and epicentre patterns in patients with TLE-HS. By identifying a potential pathway between genetic vulnerability and disease mechanisms, our findings provide new insights into the genetic underpinnings of structural alterations in TLE-HS and highlight potential imaging-genetic biomarkers for early risk stratification and personalized interventions.
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brain structurechildhoodgenetic riskImaging-geneticstemporal lobe epilepsy
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