Home > In process > Associations between epilepsy-related polygenic risk and brain morphology in childhood. > print

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024 7 _ |a 10.1093/brain/awaf259
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024 7 _ |a 1460-2156
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037 _ _ |a DZNE-2026-00165
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Ngo, Alexander
|0 0000-0002-8999-9388
|b 0
245 _ _ |a Associations between epilepsy-related polygenic risk and brain morphology in childhood.
260 _ _ |a Oxford
|c 2026
|b Oxford Univ. Press
336 7 _ |a article
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336 7 _ |a ARTICLE
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520 _ _ |a Extensive neuroimaging research in temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) has identified brain atrophy as a disease phenotype. While it is also related to a complex genetic architecture, the transition from genetic risk factors to brain vulnerabilities remains unclear. Using a population-based approach, we examined the associations between epilepsy-related polygenic risk for HS (PRS-HS) and brain structure in healthy developing children, assessed their relation to brain network architecture, and evaluated its correspondence with case-control findings in TLE-HS diagnosed patients relative to healthy individuals. We used genome-wide genotyping and structural T1-weighted MRI of 3826 neurotypical children from the Adolescent Brain Cognitive Development (ABCD) study. Surface-based linear models related PRS-HS to cortical thickness measures, and subsequently contextualized findings with structural and functional network architecture based on epicentre mapping approaches. Imaging-genetic associations were then correlated to atrophy and disease epicentres in 785 patients with TLE-HS relative to 1512 healthy controls aggregated across multiple sites. Higher PRS-HS was associated with decreases in cortical thickness across temporo-parietal as well as fronto-central regions of neurotypical children. These imaging-genetic effects were anchored to the connectivity profiles of distinct functional and structural epicentres. Compared with disease-related alterations from a separate epilepsy cohort, regional and network correlates of PRS-HS strongly mirrored cortical atrophy and disease epicentres observed in patients with TLE-HS and were highly replicable across different studies. Findings were consistent when using statistical models controlling for spatial autocorrelations and robust to variations in analytic methods. Capitalizing on recent imaging-genetic initiatives, our study provides novel insights into the genetic underpinnings of structural alterations in TLE-HS, revealing common morphological and network pathways between genetic vulnerability and disease mechanisms. These signatures offer a foundation for early risk stratification and personalized interventions targeting genetic profiles in epilepsy.
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650 _ 7 |a brain structure
|2 Other
650 _ 7 |a childhood
|2 Other
650 _ 7 |a genetic risk
|2 Other
650 _ 7 |a imaging-genetics
|2 Other
650 _ 7 |a temporal lobe epilepsy
|2 Other
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Child
|2 MeSH
650 _ 2 |a Adolescent
|2 MeSH
650 _ 2 |a Multifactorial Inheritance: genetics
|2 MeSH
650 _ 2 |a Magnetic Resonance Imaging
|2 MeSH
650 _ 2 |a Brain: pathology
|2 MeSH
650 _ 2 |a Brain: diagnostic imaging
|2 MeSH
650 _ 2 |a Epilepsy, Temporal Lobe: genetics
|2 MeSH
650 _ 2 |a Epilepsy, Temporal Lobe: pathology
|2 MeSH
650 _ 2 |a Epilepsy, Temporal Lobe: diagnostic imaging
|2 MeSH
650 _ 2 |a Atrophy
|2 MeSH
650 _ 2 |a Genetic Predisposition to Disease
|2 MeSH
650 _ 2 |a Genome-Wide Association Study
|2 MeSH
650 _ 2 |a Hippocampus: pathology
|2 MeSH
650 _ 2 |a Hippocampus: diagnostic imaging
|2 MeSH
650 _ 2 |a Epilepsy: genetics
|2 MeSH
650 _ 2 |a Epilepsy: pathology
|2 MeSH
650 _ 2 |a Epilepsy: diagnostic imaging
|2 MeSH
650 _ 2 |a Case-Control Studies
|2 MeSH
650 _ 2 |a Sclerosis: pathology
|2 MeSH
650 _ 2 |a Risk Factors
|2 MeSH
700 1 _ |a Liu, Lang
|b 1
700 1 _ |a Larivière, Sara
|b 2
700 1 _ |a Kebets, Valeria
|b 3
700 1 _ |a Fett, Serena
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700 1 _ |a Weber, Clara F
|b 5
700 1 _ |a Royer, Jessica
|0 0000-0002-4448-8998
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700 1 _ |a Yu, Eric
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700 1 _ |a Rodríguez-Cruces, Raúl
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700 1 _ |a Zhang, Zhiqiang
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700 1 _ |a Ooi, Leon Qi Rong
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700 1 _ |a Yeo, B T Thomas
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700 1 _ |a Frauscher, Birgit
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700 1 _ |a Paquola, Casey
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700 1 _ |a Caligiuri, Maria Eugenia
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700 1 _ |a Gambardella, Antonio
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700 1 _ |a Concha, Luis
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700 1 _ |a Keller, Simon S
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700 1 _ |a Cendes, Fernando
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700 1 _ |a Yasuda, Clarissa L
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700 1 _ |a Bonilha, Leonardo
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700 1 _ |a Gleichgerrcht, Ezequiel
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700 1 _ |a Focke, Niels K N
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700 1 _ |a Kotikalapudi, Raviteja
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700 1 _ |a O'Brien, Terence J
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700 1 _ |a Sinclair, Benjamin
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700 1 _ |a Vivash, Lucy
|0 0000-0002-1182-0907
|b 26
700 1 _ |a Desmond, Patricia M
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700 1 _ |a Lui, Elaine
|b 28
700 1 _ |a Vaudano, Anna Elisabetta
|0 0000-0002-6280-7526
|b 29
700 1 _ |a Meletti, Stefano
|0 0000-0003-0334-539X
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700 1 _ |a Kälviäinen, Reetta
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700 1 _ |a Soltanian-Zadeh, Hamid
|b 32
700 1 _ |a Winston, Gavin P
|b 33
700 1 _ |a Tiwari, Vijay K
|b 34
700 1 _ |a Kreilkamp, Barbara A K
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700 1 _ |a Lenge, Matteo
|0 0000-0003-2848-621X
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700 1 _ |a Guerrini, Renzo
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700 1 _ |a Hamandi, Khalid
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700 1 _ |a Rüber, Theodor
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700 1 _ |a Bauer, Tobias
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700 1 _ |a Devinsky, Orrin
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700 1 _ |a Striano, Pasquale
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700 1 _ |a Kaestner, Erik
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700 1 _ |a Hatton, Sean N
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700 1 _ |a Caciagli, Lorenzo
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700 1 _ |a Kirschner, Matthias
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700 1 _ |a Duncan, John S
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|b 47
700 1 _ |a Thompson, Paul M
|b 48
700 1 _ |a Group, ENIGMA Consortium Epilepsy Working
|b 49
|e Collaboration Author
700 1 _ |a McDonald, Carrie R
|b 50
700 1 _ |a Sisodiya, Sanjay M
|0 0000-0002-1511-5893
|b 51
700 1 _ |a Bernasconi, Neda
|b 52
700 1 _ |a Bernasconi, Andrea
|0 0000-0001-9358-5703
|b 53
700 1 _ |a Gan-Or, Ziv
|0 0000-0003-0332-234X
|b 54
700 1 _ |a Bernhardt, Boris C
|b 55
700 1 _ |a Abela, Eugenio
|b 56
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700 1 _ |a Absil, Julie
|b 57
|e Contributor
700 1 _ |a Alhusaini, Saud
|b 58
|e Contributor
700 1 _ |a Carr, Sarah J A
|b 59
|e Contributor
700 1 _ |a Cavalleri, Gianpiero L
|b 60
|e Contributor
700 1 _ |a Davoodi-Bojd, Esmaeil
|b 61
|e Contributor
700 1 _ |a Delanty, Norman
|b 62
|e Contributor
700 1 _ |a Depondt, Chantal
|b 63
|e Contributor
700 1 _ |a Doherty, Colin P
|b 64
|e Contributor
700 1 _ |a Domin, Martin
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700 1 _ |a Foley, Sonya
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700 1 _ |a Griffin, Aoife
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700 1 _ |a Jackson, Graeme D
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700 1 _ |a Kowalczyk, Magdalena
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700 1 _ |a Labate, Angelo
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700 1 _ |a Langner, Soenke
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700 1 _ |a Mascalchi, Mario
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700 1 _ |a Martin, Pascal
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700 1 _ |a Richardson, Mark P
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|e Contributor
700 1 _ |a Rummel, Christian
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700 1 _ |a Semmelroch, Mira
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700 1 _ |a Severino, Mariasavina
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700 1 _ |a Singh, Aditi
|b 78
|e Contributor
700 1 _ |a Thomas, Rhys H
|b 79
|e Contributor
700 1 _ |a Tondelli, Manuela
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700 1 _ |a Tortora, Domenico
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700 1 _ |a von Podewills, Felix
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700 1 _ |a Vos, Sjoerd B
|b 83
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700 1 _ |a Whelan, Christopher D
|b 84
|e Contributor
700 1 _ |a Wiest, Roland
|b 85
|e Contributor
700 1 _ |a Zhang, Junsong
|b 86
|e Contributor
773 _ _ |a 10.1093/brain/awaf259
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