Radiology - Research Publications

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Author: Desmond, Patricia × Author: Jackson, Graeme × Author: Kowalczyk, Magdalena × Author: O'Brien, Terence × Start date: 2022 ×

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    Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression
    Lariviere, S ; Royer, J ; Rodriguez-Cruces, R ; Paquola, C ; Caligiuri, ME ; Gambardella, A ; Concha, L ; Keller, SS ; Cendes, F ; Yasuda, CL ; Bonilha, L ; Gleichgerrcht, E ; Focke, NK ; Domin, M ; von Podewills, F ; Langner, S ; Rummel, C ; Wiest, R ; Martin, P ; Kotikalapudi, R ; O'Brien, TJ ; Sinclair, B ; Vivash, L ; Desmond, PM ; Lui, E ; Vaudano, AE ; Meletti, S ; Tondelli, M ; Alhusaini, S ; Doherty, CP ; Cavalleri, GL ; Delanty, N ; Kalviainen, R ; Jackson, GD ; Kowalczyk, M ; Mascalchi, M ; Semmelroch, M ; Thomas, RH ; Soltanian-Zadeh, H ; Davoodi-Bojd, E ; Zhang, J ; Winston, GP ; Griffin, A ; Singh, A ; Tiwari, VK ; Kreilkamp, BAK ; Lenge, M ; Guerrini, R ; Hamandi, K ; Foley, S ; Ruber, T ; Weber, B ; Depondt, C ; Absil, J ; Carr, SJA ; Abela, E ; Richardson, MP ; Devinsky, O ; Severino, M ; Striano, P ; Tortora, D ; Kaestner, E ; Hatton, SN ; Vos, SB ; Caciagli, L ; Duncan, JS ; Whelan, CD ; Thompson, PM ; Sisodiya, SM ; Bernasconi, A ; Labate, A ; McDonald, CR ; Bernasconi, N ; Bernhardt, BC (NATURE PORTFOLIO, 2022-07-27)
    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.
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    The ENIGMA-Epilepsy working group: Mapping disease from large data sets
    Sisodiya, SM ; Whelan, CD ; Hatton, SN ; Huynh, K ; Altmann, A ; Ryten, M ; Vezzani, A ; Caligiuri, ME ; Labate, A ; Gambardella, A ; Ives-Deliperi, V ; Meletti, S ; Munsell, BC ; Bonilha, L ; Tondelli, M ; Rebsamen, M ; Rummel, C ; Vaudano, AE ; Wiest, R ; Balachandra, AR ; Bargallo, N ; Bartolini, E ; Bernasconi, A ; Bernasconi, N ; Bernhardt, B ; Caldairou, B ; Carr, SJA ; Cavalleri, GL ; Cendes, F ; Concha, L ; Desmond, PM ; Domin, M ; Duncan, JS ; Focke, NK ; Guerrini, R ; Hamandi, K ; Jackson, GD ; Jahanshad, N ; Kalviainen, R ; Keller, SS ; Kochunov, P ; Kowalczyk, MA ; Kreilkamp, BAK ; Kwan, P ; Lariviere, S ; Lenge, M ; Lopez, SM ; Martin, P ; Mascalchi, M ; Moreira, JCV ; Morita-Sherman, ME ; Pardoe, HR ; Pariente, JC ; Raviteja, K ; Rocha, CS ; Rodriguez-Cruces, R ; Seeck, M ; Semmelroch, MKHG ; Sinclair, B ; Soltanian-Zadeh, H ; Stein, DJ ; Striano, P ; Taylor, PN ; Thomas, RH ; Thomopoulos, SI ; Velakoulis, D ; Vivash, L ; Weber, B ; Yasuda, CL ; Zhang, J ; Thompson, PM ; McDonald, CR (WILEY, 2022-01)
    Epilepsy is a common and serious neurological disorder, with many different constituent conditions characterized by their electro clinical, imaging, and genetic features. MRI has been fundamental in advancing our understanding of brain processes in the epilepsies. Smaller-scale studies have identified many interesting imaging phenomena, with implications both for understanding pathophysiology and improving clinical care. Through the infrastructure and concepts now well-established by the ENIGMA Consortium, ENIGMA-Epilepsy was established to strengthen epilepsy neuroscience by greatly increasing sample sizes, leveraging ideas and methods established in other ENIGMA projects, and generating a body of collaborating scientists and clinicians to drive forward robust research. Here we review published, current, and future projects, that include structural MRI, diffusion tensor imaging (DTI), and resting state functional MRI (rsfMRI), and that employ advanced methods including structural covariance, and event-based modeling analysis. We explore age of onset- and duration-related features, as well as phenomena-specific work focusing on particular epilepsy syndromes or phenotypes, multimodal analyses focused on understanding the biology of disease progression, and deep learning approaches. We encourage groups who may be interested in participating to make contact to further grow and develop ENIGMA-Epilepsy.