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@ARTICLE{Ngo:1052164,
      author       = {Ngo, Alexander and Liu, Lang and Larivière, Sara and
                      Kebets, Valeria and Fett, Serena and Weber, Clara F and
                      Royer, Jessica and Yu, Eric and Rodríguez-Cruces, Raúl and
                      Zhang, Zhiqiang and Ooi, Leon Qi Rong and Yeo, B T Thomas
                      and Frauscher, Birgit and Paquola, Casey and Caligiuri,
                      Maria Eugenia and Gambardella, Antonio and Concha, Luis and
                      Keller, Simon S and Cendes, Fernando and Yasuda, Clarissa L
                      and Bonilha, Leonardo and Gleichgerrcht, Ezequiel and Focke,
                      Niels K and Kotikalapudi, Raviteja and O’Brien, Terence J
                      and Sinclair, Benjamin and Vivash, Lucy and Desmond,
                      Patricia M and Lui, Elaine and Vaudano, Anna Elisabetta and
                      Meletti, Stefano and Kälviäinen, Reetta and
                      Soltanian-Zadeh, Hamid and Winston, Gavin P and Tiwari,
                      Vijay K and Kreilkamp, Barbara A K and Lenge, Matteo and
                      Guerrini, Renzo and Hamandi, Khalid and Rüber, Theodor and
                      Bauer, Tobias and Devinsky, Orrin and Striano, Pasquale and
                      Kaestner, Erik and Caciagli, Lorenzo and Hatton, Sean N and
                      Kirschner, Matthias and Duncan, John S and Thompson, Paul M
                      and Abela, Eugenio and Absil, Julie and Alhusaini, Saud and
                      Carr, Sarah J A and Cavalleri, Gianpiero L and Davoodi-Bojd,
                      Esmaeil and Delanty, Norman and Depondt, Chantal and
                      Doherty, Colin P and Domin, Martin and Foley, Sonya and
                      Griffin, Aoife and Jackson, Graeme D and Kowalczyk,
                      Magdalena and Labate, Angelo and Langner, Soenke and
                      Mascalchi, Mario and Martin, Pascal and Richardson, Mark P
                      and Rummel, Christian and Semmelroch, Mira and Severino,
                      Mariasavina and Singh, Aditi and Thomas, Rhys H and
                      Tondelli, Manuela and Tortora, Domenico and von Podewills,
                      Felix and Vos, Sjoerd B and Whelan, Christopher D and Wiest,
                      Roland and Zhang, Junsong and McDonald, Carrie R and
                      Sisodiya, Sanjay M and Bernasconi, Neda and Bernasconi,
                      Andrea and Gan-Or, Ziv and Bernhardt, Boris C},
      title        = {{A}ssociations between epilepsy-related polygenic risk and
                      brain morphology in childhood},
      journal      = {Brain},
      volume       = {.},
      issn         = {0006-8950},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {FZJ-2026-00802},
      pages        = {awaf259},
      year         = {2025},
      abstract     = {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 individualsWe used
                      genome-wide genotyping and structural T1-weighted magnetic
                      resonance imaging (MRI) of 3,826 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 1,512 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 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.},
      cin          = {INM-7},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-7-20090406},
      pnm          = {5251 - Multilevel Brain Organization and Variability
                      (POF4-525)},
      pid          = {G:(DE-HGF)POF4-5251},
      typ          = {PUB:(DE-HGF)16},
      doi          = {10.1093/brain/awaf259},
      url          = {https://juser.fz-juelich.de/record/1052164},
}