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@ARTICLE{Ngo:285041,
      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 N 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 Hatton, Sean N and Caciagli, Lorenzo and
                      Kirschner, Matthias and Duncan, John S and Thompson, Paul M
                      and McDonald, Carrie R and Sisodiya, Sanjay M and
                      Bernasconi, Neda and Bernasconi, Andrea and Gan-Or, Ziv and
                      Bernhardt, Boris C},
      collaboration = {Group, ENIGMA Consortium Epilepsy Working},
      othercontributors = {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},
      title        = {{A}ssociations between epilepsy-related polygenic risk and
                      brain morphology in childhood.},
      journal      = {Brain},
      volume       = {149},
      number       = {2},
      issn         = {0006-8950},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DZNE-2026-00165},
      pages        = {519 - 533},
      year         = {2026},
      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 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.},
      keywords     = {Humans / Male / Female / Child / Adolescent /
                      Multifactorial Inheritance: genetics / Magnetic Resonance
                      Imaging / Brain: pathology / Brain: diagnostic imaging /
                      Epilepsy, Temporal Lobe: genetics / Epilepsy, Temporal Lobe:
                      pathology / Epilepsy, Temporal Lobe: diagnostic imaging /
                      Atrophy / Genetic Predisposition to Disease / Genome-Wide
                      Association Study / Hippocampus: pathology / Hippocampus:
                      diagnostic imaging / Epilepsy: genetics / Epilepsy:
                      pathology / Epilepsy: diagnostic imaging / Case-Control
                      Studies / Sclerosis: pathology / Risk Factors / brain
                      structure (Other) / childhood (Other) / genetic risk (Other)
                      / imaging-genetics (Other) / temporal lobe epilepsy (Other)},
      cin          = {AG Stöcker},
      ddc          = {610},
      cid          = {I:(DE-2719)1013026},
      pnm          = {354 - Disease Prevention and Healthy Aging (POF4-354)},
      pid          = {G:(DE-HGF)POF4-354},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40811581},
      doi          = {10.1093/brain/awaf259},
      url          = {https://pub.dzne.de/record/285041},
}