Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression

Sara Larivière (), Jessica Royer, Raúl Rodríguez-Cruces, Casey Paquola, Maria Eugenia Caligiuri, Antonio Gambardella, Luis Concha, Simon S. Keller, Fernando Cendes, Clarissa L. Yasuda, Leonardo Bonilha, Ezequiel Gleichgerrcht, Niels K. Focke, Martin Domin, Felix Podewills, Soenke Langner, Christian Rummel, Roland Wiest, Pascal Martin, Raviteja Kotikalapudi, Terence J. O’Brien, Benjamin Sinclair, Lucy Vivash, Patricia M. Desmond, Elaine Lui, Anna Elisabetta Vaudano, Stefano Meletti, Manuela Tondelli, Saud Alhusaini, Colin P. Doherty, Gianpiero L. Cavalleri, Norman Delanty, Reetta Kälviäinen, Graeme D. Jackson, Magdalena Kowalczyk, Mario Mascalchi, Mira Semmelroch, Rhys H. Thomas, Hamid Soltanian-Zadeh, Esmaeil Davoodi-Bojd, Junsong Zhang, Gavin P. Winston, Aoife Griffin, Aditi Singh, Vijay K. Tiwari, Barbara A. K. Kreilkamp, Matteo Lenge, Renzo Guerrini, Khalid Hamandi, Sonya Foley, Theodor Rüber, Bernd Weber, Chantal Depondt, Julie Absil, Sarah J. A. Carr, Eugenio Abela, Mark P. Richardson, Orrin Devinsky, Mariasavina Severino, Pasquale Striano, Domenico Tortora, Erik Kaestner, Sean N. Hatton, Sjoerd B. Vos, Lorenzo Caciagli, John S. Duncan, Christopher D. Whelan, Paul M. Thompson, Sanjay M. Sisodiya, Andrea Bernasconi, Angelo Labate, Carrie R. McDonald, Neda Bernasconi and Boris C. Bernhardt ()
Additional contact information
Sara Larivière: McGill University
Jessica Royer: McGill University
Raúl Rodríguez-Cruces: McGill University
Casey Paquola: Forschungszentrum Jülich
Maria Eugenia Caligiuri: University Magna Græcia
Antonio Gambardella: University Magna Græcia
Luis Concha: Universidad Nacional Autónoma de México
Simon S. Keller: University of Liverpool
Fernando Cendes: University of Campinas–UNICAMP, Campinas
Clarissa L. Yasuda: University of Campinas–UNICAMP, Campinas
Leonardo Bonilha: Emory University
Ezequiel Gleichgerrcht: Medical University of South Carolina
Niels K. Focke: University of Medicine Göttingen
Martin Domin: Functional Imaging Unit, University Medicine Greifswald
Felix Podewills: University Medicine Greifswald
Soenke Langner: University Medicine Greifswald
Christian Rummel: University Institute of Diagnostic and Interventional Neuroradiology, University Hospital Bern
Roland Wiest: University Institute of Diagnostic and Interventional Neuroradiology, University Hospital Bern
Pascal Martin: Hertie Institute for Clinical Brain Research, University of Tübingen
Raviteja Kotikalapudi: Hertie Institute for Clinical Brain Research, University of Tübingen
Terence J. O’Brien: Monash University, Melbourne
Benjamin Sinclair: Monash University, Melbourne
Lucy Vivash: Monash University, Melbourne
Patricia M. Desmond: The University of Melbourne
Elaine Lui: The University of Melbourne
Anna Elisabetta Vaudano: Azienda Ospedaliera-Universitaria
Stefano Meletti: Azienda Ospedaliera-Universitaria
Manuela Tondelli: University of Modena and Reggio Emilia
Saud Alhusaini: The Royal College of Surgeons in Ireland
Colin P. Doherty: St James’ Hospital
Gianpiero L. Cavalleri: The Royal College of Surgeons in Ireland
Norman Delanty: The Royal College of Surgeons in Ireland
Reetta Kälviäinen: Kuopio University Hospital, Member of the European Reference Network for Rare and Complex Epilepsies EpiCARE
Graeme D. Jackson: University of Melbourne
Magdalena Kowalczyk: University of Melbourne
Mario Mascalchi: University of Florence
Mira Semmelroch: University of Melbourne
Rhys H. Thomas: Newcastle University
Hamid Soltanian-Zadeh: University of Tehran
Esmaeil Davoodi-Bojd: Henry Ford Health System
Junsong Zhang: Xiamen University
Gavin P. Winston: Queen’s University
Aoife Griffin: Queens University Belfast
Aditi Singh: Queens University Belfast
Vijay K. Tiwari: Queens University Belfast
Barbara A. K. Kreilkamp: University of Medicine Göttingen
Matteo Lenge: Children’s Hospital A. Meyer-University of Florence
Renzo Guerrini: Children’s Hospital A. Meyer-University of Florence
Khalid Hamandi: University Hospital of Whales
Sonya Foley: Cardiff University Brain Research Imaging Centre (CUBRIC), College of Biomedical Sciences, Cardiff University
Theodor Rüber: University of Bonn Medical Center
Bernd Weber: University Hospital Bonn
Chantal Depondt: Université Libre de Bruxelles
Julie Absil: Université Libre de Bruxelles
Sarah J. A. Carr: King’s College London
Eugenio Abela: King’s College London
Mark P. Richardson: King’s College London
Orrin Devinsky: NYU Grossman School of Medicine
Mariasavina Severino: IRCCS Istituto Giannina Gaslini
Pasquale Striano: IRCCS Istituto Giannina Gaslini
Domenico Tortora: University of Genova
Erik Kaestner: University of California San Diego
Sean N. Hatton: University of California San Diego
Sjoerd B. Vos: UCL Institute of Neurology
Lorenzo Caciagli: UCL Institute of Neurology
John S. Duncan: UCL Institute of Neurology
Christopher D. Whelan: The Royal College of Surgeons in Ireland
Paul M. Thompson: University of Southern California
Sanjay M. Sisodiya: UCL Institute of Neurology
Andrea Bernasconi: McGill University
Angelo Labate: University of Messina
Carrie R. McDonald: University of California San Diego
Neda Bernasconi: McGill University
Boris C. Bernhardt: McGill University

Nature Communications, 2022, vol. 13, issue 1, 1-16

Abstract: Abstract Epilepsy is associated with genetic risk factors and cortico-subcortical network alterations, but associations between neurobiological mechanisms and macroscale connectomics remain unclear. This multisite ENIGMA-Epilepsy study examined whole-brain structural covariance networks in patients with epilepsy and related findings to postmortem epilepsy risk gene expression patterns. Brain network analysis included 578 adults with temporal lobe epilepsy (TLE), 288 adults with idiopathic generalized epilepsy (IGE), and 1328 healthy controls from 18 centres worldwide. Graph theoretical analysis of structural covariance networks revealed increased clustering and path length in orbitofrontal and temporal regions in TLE, suggesting a shift towards network regularization. Conversely, people with IGE showed decreased clustering and path length in fronto-temporo-parietal cortices, indicating a random network configuration. Syndrome-specific topological alterations reflected expression patterns of risk genes for hippocampal sclerosis in TLE and for generalized epilepsy in IGE. These imaging-transcriptomic signatures could potentially guide diagnosis or tailor therapeutic approaches to specific epilepsy syndromes.

Date: 2022
References: View references in EconPapers View complete reference list from CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/s41467-022-31730-5 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-31730-5

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/s41467-022-31730-5

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().