Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression
Journal article
Larivière, Sara, Royer, Jessica, Rodríguez-Cruces, Raúl, Paquola, Casey, Caligiuri, Maria Eugenia, Gambardella, Antonio, Concha, Luis, Keller, Simon S., Cendes, Fernando, Yasuda, Clarissa L., Bonilha, Leonardo, Gleichgerrcht, Ezequiel, Focke, Niels K., Domin, Martin, von Podewills, Felix, Langner, Soenke, Rummel, Christian, Wiest, Roland, Martin, Pascal, ... Bernhardt, Boris C.. (2022). Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression. Nature Communications. 13(1), p. Article 4320. https://doi.org/10.1038/s41467-022-31730-5
Authors | Larivière, Sara, Royer, Jessica, Rodríguez-Cruces, Raúl, Paquola, Casey, Caligiuri, Maria Eugenia, Gambardella, Antonio, Concha, Luis, Keller, Simon S., Cendes, Fernando, Yasuda, Clarissa L., Bonilha, Leonardo, Gleichgerrcht, Ezequiel, Focke, Niels K., Domin, Martin, von Podewills, Felix, Langner, Soenke, Rummel, Christian, Wiest, Roland, Martin, Pascal, Kotikalapudi, Raviteja, O’Brien, Terence J., Sinclair, Benjamin, Vivash, Lucy, Desmond, Patricia M., Lui, Elaine, Vaudano, Anna Elisabetta, Meletti, Stefano, Tondelli, Manuela, Alhusaini, Saud, Doherty, Colin P., Cavalleri, Gianpiero L., Delanty, Norman, Kälviäinen, Reetta, Jackson, Graeme D., Kowalczyk, Magdalena, Mascalchi, Mario, Semmelroch, Mira, Thomas, Rhys H., Soltanian-Zadeh, Hamid, Davoodi-Bojd, Esmaeil, Zhang, Junsong, Winston, Gavin P., Griffin, Aoife, Singh, Aditi, Tiwari, Vijay K., Kreilkamp, Barbara A. K., Lenge, Matteo, Guerrini, Renzo, Hamandi, Khalid, Foley, Sonya, Rüber, Theodor, Weber, Bernd, Depondt, Chantal, Absil, Julie, Carr, Sarah J. A., Abela, Eugenio, Richardson, Mark P., Devinsky, Orrin, Severino, Mariasavina, Striano, Pasquale, Tortora, Domenico, Kaestner, Erik, Hatton, Sean N., Vos, Sjoerd B., Caciagli, Lorenzo, Duncan, John S., Whelan, Christopher D., Thompson, Paul M., Sisodiya, Sanjay M., Bernasconi, Andrea, Labate, Angelo, McDonald, Carrie R., Bernasconi, Neda and Bernhardt, Boris C. |
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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. |
Year | 2022 |
Journal | Nature Communications |
Journal citation | 13 (1), p. Article 4320 |
Publisher | Nature Publishing Group |
ISSN | 2041-1723 |
Digital Object Identifier (DOI) | https://doi.org/10.1038/s41467-022-31730-5 |
PubMed ID | 35896547 |
Scopus EID | 2-s2.0-85134892469 |
PubMed Central ID | PMC9329287 |
Open access | Published as ‘gold’ (paid) open access |
Page range | 1-16 |
Funder | Biogen, Inc |
Publisher's version | License File Access Level Open |
Output status | Published |
Publication dates | |
Online | 27 Jul 2022 |
Publication process dates | |
Accepted | 30 Jun 2022 |
Deposited | 18 Aug 2023 |
https://acuresearchbank.acu.edu.au/item/8z8qz/structural-network-alterations-in-focal-and-generalized-epilepsy-assessed-in-a-worldwide-enigma-study-follow-axes-of-epilepsy-risk-gene-expression
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Publisher's version
OA_Larivière_2022_Structural_network_alterations_in_focal_and.pdf | |
License: CC BY 4.0 | |
File access level: Open |
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