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8. Event‐based modeling in temporal lobe epilepsy demonstrates progressive atrophy from cross‐sectional data

Author

Lopez, Seymour M, Aksman, Leon M, Oxtoby, Neil P, Vos, Sjoerd B, Rao, Jun, Kaestner, Erik, Alhusaini, Saud, Alvim, Marina, Bender, Benjamin, Bernasconi, Andrea, Bernasconi, Neda, Bernhardt, Boris, Bonilha, Leonardo, Caciagli, Lorenzo, Caldairou, Benoit, Caligiuri, Maria Eugenia, Calvet, Angels, Cendes, Fernando, Concha, Luis, Conde‐Blanco, Estefania, Davoodi‐Bojd, Esmaeil, de Bézenac, Christophe, Delanty, Norman, Desmond, Patricia M, Devinsky, Orrin, Domin, Martin, Duncan, John S, Focke, Niels K, Foley, Sonya, Fortunato, Francesco, Galovic, Marian, Gambardella, Antonio, Gleichgerrcht, Ezequiel, Guerrini, Renzo, Hamandi, Khalid, Ives‐Deliperi, Victoria, Jackson, Graeme D, Jahanshad, Neda, Keller, Simon S, Kochunov, Peter, Kotikalapudi, Raviteja, Kreilkamp, Barbara AK, Labate, Angelo, Larivière, Sara, Lenge, Matteo, Lui, Elaine, Malpas, Charles, Martin, Pascal, Mascalchi, Mario, Medland, Sarah E, Meletti, Stefano, Morita‐Sherman, Marcia E, Owen, Thomas W, Richardson, Mark, Riva, Antonella, Rüber, Theodor, Sinclair, Ben, Soltanian‐Zadeh, Hamid, Stein, Dan J, Striano, Pasquale, Taylor, Peter N, Thomopoulos, Sophia I, Thompson, Paul M, Tondelli, Manuela, Vaudano, Anna Elisabetta, Vivash, Lucy, Wang, Yujiang, Weber, Bernd, Whelan, Christopher D, Wiest, Roland, Winston, Gavin P, Yasuda, Clarissa Lin, McDonald, Carrie R, Alexander, Daniel C, Sisodiya, Sanjay M, Altmann, Andre, Bargalló, Núria, Bartolini, Emanuele, O’Brien, Terence J, and Thomas, Rhys H

Subjects
Brain Disorders, Epilepsy, Neurodegenerative, Neurosciences, Clinical Research, Biomedical Imaging, Aetiology, 2.1 Biological and endogenous factors, Neurological, Good Health and Well Being, Atrophy, Biomarkers, Cross-Sectional Studies, Epilepsy, Temporal Lobe, Hippocampus, Humans, Magnetic Resonance Imaging, Sclerosis, disease progression, duration of illness, event-based model, MTLE, patient staging, ENIGMA-Epilepsy Working Group, Clinical Sciences, Neurology & Neurosurgery
Abstract

ObjectiveRecent work has shown that people with common epilepsies have characteristic patterns of cortical thinning, and that these changes may be progressive over time. Leveraging a large multicenter cross-sectional cohort, we investigated whether regional morphometric changes occur in a sequential manner, and whether these changes in people with mesial temporal lobe epilepsy and hippocampal sclerosis (MTLE-HS) correlate with clinical features.MethodsWe extracted regional measures of cortical thickness, surface area, and subcortical brain volumes from T1-weighted (T1W) magnetic resonance imaging (MRI) scans collected by the ENIGMA-Epilepsy consortium, comprising 804 people with MTLE-HS and 1625 healthy controls from 25 centers. Features with a moderate case-control effect size (Cohen d ≥ .5) were used to train an event-based model (EBM), which estimates a sequence of disease-specific biomarker changes from cross-sectional data and assigns a biomarker-based fine-grained disease stage to individual patients. We tested for associations between EBM disease stage and duration of epilepsy, age at onset, and antiseizure medicine (ASM) resistance.ResultsIn MTLE-HS, decrease in ipsilateral hippocampal volume along with increased asymmetry in hippocampal volume was followed by reduced thickness in neocortical regions, reduction in ipsilateral thalamus volume, and finally, increase in ipsilateral lateral ventricle volume. EBM stage was correlated with duration of illness (Spearman ρ = .293, p = 7.03 × 10-16 ), age at onset (ρ = -.18, p = 9.82 × 10-7 ), and ASM resistance (area under the curve = .59, p = .043, Mann-Whitney U test). However, associations were driven by cases assigned to EBM Stage 0, which represents MTLE-HS with mild or nondetectable abnormality on T1W MRI.SignificanceFrom cross-sectional MRI, we reconstructed a disease progression model that highlights a sequence of MRI changes that aligns with previous longitudinal studies. This model could be used to stage MTLE-HS subjects in other cohorts and help establish connections between imaging-based progression staging and clinical features.

Published
2022

10. The influence of wakefulness fluctuations on brain networks involved in centrotemporal spike occurrence

Author

Bergonzini, Patrizia, Caramaschi, Elisa, Canevini, Maria Paola, Bernardina, Bernardo Dalla, Gobbi, Giuseppe, Filippini, Melissa, Gessaroli, Giuliana, Piccolo, Benedetta, Pisani, Francesco, Santucci, Margherita, Veggiotti, Pierangelo, Vignoli, Aglaia, Talami, Francesca, Lemieux, Louis, Avanzini, Pietro, Ballerini, Alice, Cantalupo, Gaetano, Laufs, Helmut, Meletti, Stefano, and Vaudano, Anna Elisabetta

Published
2024
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12. Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy

Author

Park, Bo-yong, Larivière, Sara, Rodríguez-Cruces, Raul, Royer, Jessica, Tavakol, Shahin, Wang, Yezhou, Caciagli, Lorenzo, Caligiuri, Maria Eugenia, Gambardella, Antonio, Concha, Luis, Keller, Simon S, Cendes, Fernando, Alvim, Marina KM, Yasuda, Clarissa, Bonilha, Leonardo, Gleichgerrcht, Ezequiel, Focke, Niels K, Kreilkamp, Barbara AK, Domin, Martin, von Podewils, Felix, Langner, Soenke, Rummel, Christian, Rebsamen, Michael, Wiest, Roland, Martin, Pascal, Kotikalapudi, Raviteja, Bender, Benjamin, O’Brien, Terence J, Law, Meng, Sinclair, Benjamin, Vivash, Lucy, Kwan, Patrick, Desmond, Patricia M, Malpas, Charles B, Lui, Elaine, 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, Lenge, Matteo, Guerrini, Renzo, Bartolini, Emanuele, Hamandi, Khalid, Foley, Sonya, Weber, Bernd, Depondt, Chantal, Absil, Julie, Carr, Sarah JA, Abela, Eugenio, Richardson, Mark P, Devinsky, Orrin, Severino, Mariasavina, Striano, Pasquale, Parodi, Costanza, Tortora, Domenico, Hatton, Sean N, Vos, Sjoerd B, Duncan, John S, Galovic, Marian, Whelan, Christopher D, Bargalló, Núria, Pariente, Jose, Conde-Blanco, Estefania, Vaudano, Anna Elisabetta, Tondelli, Manuela, Meletti, Stefano, Kong, Xiang‐Zhen, Francks, Clyde, Fisher, Simon E, Caldairou, Benoit, Ryten, Mina, Labate, Angelo, Sisodiya, Sanjay M, Thompson, Paul M, McDonald, Carrie R, Bernasconi, Andrea, Bernasconi, Neda, and Bernhardt, Boris C

Subjects
Epilepsy, Neurodegenerative, Clinical Research, Brain Disorders, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Atrophy, Connectome, Epilepsy, Temporal Lobe, Hippocampus, Humans, Magnetic Resonance Imaging, temporal lobe epilepsy, asymmetry, cortical thickness, multi-site, gradients, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

Temporal lobe epilepsy, a common drug-resistant epilepsy in adults, is primarily a limbic network disorder associated with predominant unilateral hippocampal pathology. Structural MRI has provided an in vivo window into whole-brain grey matter structural alterations in temporal lobe epilepsy relative to controls, by either mapping (i) atypical inter-hemispheric asymmetry; or (ii) regional atrophy. However, similarities and differences of both atypical asymmetry and regional atrophy measures have not been systematically investigated. Here, we addressed this gap using the multisite ENIGMA-Epilepsy dataset comprising MRI brain morphological measures in 732 temporal lobe epilepsy patients and 1418 healthy controls. We compared spatial distributions of grey matter asymmetry and atrophy in temporal lobe epilepsy, contextualized their topographies relative to spatial gradients in cortical microstructure and functional connectivity calculated using 207 healthy controls obtained from Human Connectome Project and an independent dataset containing 23 temporal lobe epilepsy patients and 53 healthy controls and examined clinical associations using machine learning. We identified a marked divergence in the spatial distribution of atypical inter-hemispheric asymmetry and regional atrophy mapping. The former revealed a temporo-limbic disease signature while the latter showed diffuse and bilateral patterns. Our findings were robust across individual sites and patients. Cortical atrophy was significantly correlated with disease duration and age at seizure onset, while degrees of asymmetry did not show a significant relationship to these clinical variables. Our findings highlight that the mapping of atypical inter-hemispheric asymmetry and regional atrophy tap into two complementary aspects of temporal lobe epilepsy-related pathology, with the former revealing primary substrates in ipsilateral limbic circuits and the latter capturing bilateral disease effects. These findings refine our notion of the neuropathology of temporal lobe epilepsy and may inform future discovery and validation of complementary MRI biomarkers in temporal lobe epilepsy.

Published
2022

13. The ENIGMA‐Epilepsy working group: Mapping disease from large data sets

Author

Sisodiya, Sanjay M, Whelan, Christopher D, Hatton, Sean N, Huynh, Khoa, Altmann, Andre, Ryten, Mina, Vezzani, Annamaria, Caligiuri, Maria Eugenia, Labate, Angelo, Gambardella, Antonio, Ives‐Deliperi, Victoria, Meletti, Stefano, Munsell, Brent C, Bonilha, Leonardo, Tondelli, Manuela, Rebsamen, Michael, Rummel, Christian, Vaudano, Anna Elisabetta, Wiest, Roland, Balachandra, Akshara R, Bargalló, Núria, Bartolini, Emanuele, Bernasconi, Andrea, Bernasconi, Neda, Bernhardt, Boris, Caldairou, Benoit, Carr, Sarah JA, Cavalleri, Gianpiero L, Cendes, Fernando, Concha, Luis, Desmond, Patricia M, Domin, Martin, Duncan, John S, Focke, Niels K, Guerrini, Renzo, Hamandi, Khalid, Jackson, Graeme D, Jahanshad, Neda, Kälviäinen, Reetta, Keller, Simon S, Kochunov, Peter, Kowalczyk, Magdalena A, Kreilkamp, Barbara AK, Kwan, Patrick, Lariviere, Sara, Lenge, Matteo, Lopez, Seymour M, Martin, Pascal, Mascalchi, Mario, Moreira, José CV, Morita‐Sherman, Marcia E, Pardoe, Heath R, Pariente, Jose C, Raviteja, Kotikalapudi, Rocha, Cristiane S, Rodríguez‐Cruces, Raúl, Seeck, Margitta, Semmelroch, Mira KHG, Sinclair, Benjamin, Soltanian‐Zadeh, Hamid, Stein, Dan J, Striano, Pasquale, Taylor, Peter N, Thomas, Rhys H, Thomopoulos, Sophia I, Velakoulis, Dennis, Vivash, Lucy, Weber, Bernd, Yasuda, Clarissa Lin, Zhang, Junsong, Thompson, Paul M, McDonald, Carrie R, Abela, Eugenio, Absil, Julie, Adams, Sophia, Alhusaini, Saud, Alvim, Marina, Balestrini, Simona, Bender, Benjamin, Bergo, Felipe, Bernardes, Tauana, Calvo, Anna, Carreno, Mar, Cherubini, Andrea, David, Philippe, Davoodi‐Bojd, Esmaeil, Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Doherty, Colin, França, Wendy Caroline, Franceschet, Leticia, Hibar, Derrek P, Ishikawa, Akari, Kaestner, Erik, Langner, Soenke, Liu, Min, Mirandola, Laura, Naylor, Jillian, and Nazem‐Zadeh, Mohammad‐reza

Subjects
Brain Disorders, Biomedical Imaging, Neurosciences, Epilepsy, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, covariance, deep learning, DTI, event-based modeling, gene expression, genetics, imaging, MRI, quantitative, rsfMRI, ENIGMA Consortium Epilepsy Working Group, Cognitive Sciences, Experimental Psychology
Abstract

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.

Published
2022

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

Author

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 AK, Lenge, Matteo, Guerrini, Renzo, Hamandi, Khalid, Foley, Sonya, Rüber, Theodor, Weber, Bernd, Depondt, Chantal, Absil, Julie, Carr, Sarah JA, 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

Subjects
Neurodegenerative, Genetics, Neurosciences, Brain Disorders, Epilepsy, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Connectome, Epilepsy, Generalized, Epilepsy, Temporal Lobe, Gene Expression, Humans, Immunoglobulin E, Magnetic Resonance Imaging, Nerve Net
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.

Published
2022

19. Artificial intelligence for classification of temporal lobe epilepsy with ROI-level MRI data: A worldwide ENIGMA-Epilepsy study

Author

Gleichgerrcht, Ezequiel, Munsell, Brent C, Alhusaini, Saud, Alvim, Marina KM, Bargalló, Núria, Bender, Benjamin, Bernasconi, Andrea, Bernasconi, Neda, Bernhardt, Boris, Blackmon, Karen, Caligiuri, Maria Eugenia, Cendes, Fernando, Concha, Luis, Desmond, Patricia M, Devinsky, Orrin, Doherty, Colin P, Domin, Martin, Duncan, John S, Focke, Niels K, Gambardella, Antonio, Gong, Bo, Guerrini, Renzo, Hatton, Sean N, Kälviäinen, Reetta, Keller, Simon S, Kochunov, Peter, Kotikalapudi, Raviteja, Kreilkamp, Barbara AK, Labate, Angelo, Langner, Soenke, Larivière, Sara, Lenge, Matteo, Lui, Elaine, Martin, Pascal, Mascalchi, Mario, Meletti, Stefano, O'Brien, Terence J, Pardoe, Heath R, Pariente, Jose C, Rao, Jun Xian, Richardson, Mark P, Rodríguez-Cruces, Raúl, Rüber, Theodor, Sinclair, Ben, Soltanian-Zadeh, Hamid, Stein, Dan J, Striano, Pasquale, Taylor, Peter N, Thomas, Rhys H, Vaudano, Anna Elisabetta, Vivash, Lucy, von Podewills, Felix, Vos, Sjoerd B, Weber, Bernd, Yao, Yi, Yasuda, Clarissa Lin, Zhang, Junsong, Thompson, Paul M, Sisodiya, Sanjay M, McDonald, Carrie R, Bonilha, Leonardo, Group, ENIGMA-Epilepsy Working, Altmann, Andre, Depondt, Chantal, Galovic, Marian, Thomopoulos, Sophia I, and Wiest, Roland

Subjects
Biomedical Imaging, Neurodegenerative, Neurosciences, Brain Disorders, Prevention, Epilepsy, 2.1 Biological and endogenous factors, Aetiology, Neurological, Artificial Intelligence, Brain, Epilepsy, Temporal Lobe, Hippocampus, Humans, Magnetic Resonance Imaging, Sclerosis, Support Vector Machine, Temporal lobe epilepsy, Machine learning, Artificial inteligence, ENIGMA-Epilepsy Working Group
Abstract

Artificial intelligence has recently gained popularity across different medical fields to aid in the detection of diseases based on pathology samples or medical imaging findings. Brain magnetic resonance imaging (MRI) is a key assessment tool for patients with temporal lobe epilepsy (TLE). The role of machine learning and artificial intelligence to increase detection of brain abnormalities in TLE remains inconclusive. We used support vector machine (SV) and deep learning (DL) models based on region of interest (ROI-based) structural (n = 336) and diffusion (n = 863) brain MRI data from patients with TLE with ("lesional") and without ("non-lesional") radiographic features suggestive of underlying hippocampal sclerosis from the multinational (multi-center) ENIGMA-Epilepsy consortium. Our data showed that models to identify TLE performed better or similar (68-75%) compared to models to lateralize the side of TLE (56-73%, except structural-based) based on diffusion data with the opposite pattern seen for structural data (67-75% to diagnose vs. 83% to lateralize). In other aspects, structural and diffusion-based models showed similar classification accuracies. Our classification models for patients with hippocampal sclerosis were more accurate (68-76%) than models that stratified non-lesional patients (53-62%). Overall, SV and DL models performed similarly with several instances in which SV mildly outperformed DL. We discuss the relative performance of these models with ROI-level data and the implications for future applications of machine learning and artificial intelligence in epilepsy care.

Published
2021

21. A retrospective multicentric study on the effectiveness of intravenous brivaracetam in seizure clusters: Data from the Italian experience

Author

Orlandi, Niccolò, d'Orsi, Giuseppe, Pauletto, Giada, Nilo, Annacarmen, Sicurella, Luigi, Pescini, Francesca, Giglia, Francesca, Labate, Angelo, Laganà, Angelina, Renna, Rosaria, Cavalli, Salvatore Maria, Zummo, Leila, Coletti Moja, Mario, Vollono, Catello, Sabetta, Annarita, Ranzato, Federica, Zappulla, Salvatore, Audenino, Daniela, Miniello, Stefania, Nazerian, Peiman, Marino, Daniela, Lattanzi, Simona, Piccioli, Marta, Estraneo, Anna, Zini, Andrea, Servo, Serena, Giovannini, Giada, Meletti, Stefano, Bianchini, Daria, Contardi, Sara, Fasolino, Alessandra, Fiore, Giulio Maria, Foschi, Nicoletta, Giordano, Antonello, Laisa, Patrizia, Lo Coco, Daniele, Maccora, Simona, Magaudda, Adriana, Panebianco, Mariangela, Merli, Elena, Piccirillo, Giovanni, Pugnaghi, Matteo, Ramacciotti, Lorenzo, Vaudano, Anna Elisabetta, Vitale, Giuseppina, and Zaniboni, Anna

Published
2023
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30. An Italian consensus on the management of Lennox-Gastaut syndrome

Author

Aguglia, Umberto, Bagnasco, Irene, Bartolini, Emanuele, Battaglia, Domenica, Beccaria, Francesca, Belcastro, Vincenzo, Bernardo, Pia, Bonanni, Paolo, Boniver, Clementina, Bonuccelli, Alice, Briatore, Eleonora, Brigo, Francesco, Cesaroni, Elisabetta, Coa, Roberta, Costa, Cinzia, D'Aniello, Alfredo, De Giorgis, Valentina, Gennaro, Giancarlo Di, Ferrari, Anna Rita, Marchese, Francesca, Matricardi, Sara, Messana, Tullio, Morano, Alessandra, Operto, Francesca Felicia, Orsini, Alessandro, Parmeggiani, Lucio, Peruzzi, Cinzia, Pruna, Dario, Puligheddu, Monica, Pulitano, Patrizia, Ragona, Francesca, Romigi, Andrea, Rosati, Anna, Rosati, Eleonora, Russo, Angelo, Sartori, Stefano, Spagnoli, Carlotta, Spanò, Maria, Trabacca, Antonio, Troisi, Serena, Viri, Maurizio, Zucca, Claudio, Riva, Antonella, Coppola, Antonietta, Bonaventura, Carlo Di, Elia, Maurizio, Ferlazzo, Edoardo, Gobbi, Giuseppe, Marini, Carla, Meletti, Stefano, Romeo, Antonino, Santoro, Katia, Verrotti, Alberto, Capovilla, Giuseppe, and Striano, Pasquale

Published
2022
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32. Identifying and predicting amyotrophic lateral sclerosis clinical subgroups: a population-based machine-learning study

Author

Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Manera, Umberto, Vasta, Rosario, Palumbo, Francesca, Bombaci, Alessandro, Grassano, Maurizio, Brunetti, Maura, Casale, Federico, Fuda, Giuseppe, Salamone, Paolina, Iazzolino, Barbara, Peotta, Laura, Cugnasco, Paolo, De Marco, Giovanni, Torrieri, Maria Claudia, Gallone, Salvatore, Barberis, Marco, Sbaiz, Luca, Gentile, Salvatore, Mauro, Alessandro, Mazzini, Letizia, De Marchi, Fabiola, Corrado, Lucia, D'Alfonso, Sandra, Bertolotto, Antonio, Imperiale, Daniele, De Mattei, Marco, Amarù, Salvatore, Comi, Cristoforo, Labate, Carmelo, Poglio, Fabio, Ruiz, Luigi, Testa, Lucia, Rota, Eugenia, Ghiglione, Paolo, Launaro, Nicola, Di Sapio, Alessia, Mandrioli, Jessica, Fini, Nicola, Martinelli, Ilaria, Zucchi, Elisabetta, Gianferrari, Giulia, Simonini, Cecilia, Meletti, Stefano, Liguori, Rocco, Vacchiano, Veria, Salvi, Fabrizio, Bartolomei, Ilaria, Michelucci, Roberto, Cortelli, Pietro, Rinaldi, Rita, Borghi, Anna Maria, Zini, Andrea, Sette, Elisabetta, Tugnoli, Valeria, Pugliatti, Maura, Canali, Elena, Codeluppi, Luca, Valzania, Franco, Zinno, Lucia, Pavesi, Giovanni, Medici, Doriana, Pilurzi, Giovanna, Terlizzi, Emilio, Guidetti, Donata, De Pasqua, Silvia, Santangelo, Mario, De Massis, Patrizia, Bracaglia, Martina, Casmiro, Mario, Querzani, Pietro, Morresi, Simonetta, Longoni, Marco, Patuelli, Alberto, Malagù, Susanna, Currò Dossi, Marco, Vidale, Simone, Ferro, Salvatore, Faghri, Faraz, Brunn, Fabian, Dadu, Anant, Nalls, Michael A, Campbell, Roy H, and Traynor, Bryan J

Published
2022
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36. Traduzione e adattamento alla lingua italiana del glossario dei termini più comunemente usati dagli elettroencefalografisti clinici e proposta per il formato del referto EEG (Revisione IFCN 2017)

Author

Alvisi, Lara, Cantalupo, Gaetano, Eleopra, Roberto, Guerra, Angelo, Lori, Silvia, Marinelli, Lucio, Tassi, Laura, Tinuper, Paolo, Vigevano, Federico, Strigaro, Gionata, Bisulli, Francesca, Assenza, Giovanni, Mecarelli, Oriano, Grippo, Antonello, and Meletti, Stefano

Published
2022
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37. FADD gene pathogenic variants causing recurrent febrile infection‐related epilepsy syndrome: Case report and literature review.

Author

Giovannini, Giada, Giannoccaro, Maria Pia, Cioclu, Maria Cristina, Orlandi, Niccolò, Liguori, Rocco, and Meletti, Stefano

Subjects
LITERATURE reviews, EPILEPSY, GENETIC variation, CEREBRAL atrophy, STATUS epilepticus, SYMPTOMS
Abstract

FIRES and NORSE are clinical presentations of disease processes that, to date, remain unexplained without an established etiology in many cases. Neuroinflammation is thought to have paramount importance in the genesis of these conditions. We hereby report the clinical, EEG, brain MRI, and genetic findings of a nuclear family with recurrent febrile‐related encephalopathy with refractory de novo Status Epilepticus. Whole‐exome sequencing (WES) revealed a homozygous p.C105W pathogenic variant of FADD gene (FAS‐associated protein with death domain, FADD), known to cause ultrarare forms of autosomal recessive immunodeficiency that could be associated with variable degrees of lymphoproliferation, cerebral atrophy, and cardiac abnormalities. The FADD‐related conditions disrupt FAS‐mediated apoptosis and can cause a clinical picture with the characteristics of FIRES. This observation is important because, on one hand, it increases the number of reported patients with FADD deficiency, showing that this disorder may present variable expressivity, and on the other hand, it demonstrates a genetic cause of FIRES involving a cell‐mediated inflammation regulatory pathway. This finding supports early treatment with immunomodulatory therapy and could represent a new avenue of research in the field of new onset refractory status epilepticus and related conditions. [ABSTRACT FROM AUTHOR]

Published
2024
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38. A worldwide ENIGMA study on epilepsy-related gray and white matter compromise across the adult lifespan

Author

Chen, Judy, primary, Ngo, Alexander, additional, Rodríguez-Cruces, Raúl, additional, Royer, Jessica, additional, Caligiuri, Maria Eugenia, additional, Gambardella, Antonio, additional, Concha, Luis, additional, Keller, Simon S., additional, Cendes, Fernando, additional, Yasuda, Clarissa L., additional, Alvim, Marina K. M., additional, Bonilha, Leonardo, additional, Gleichgerrcht, Ezequiel, additional, Focke, Niels K., additional, Kreilkamp, Barbara, additional, Domin, Martin, additional, von Podewils, Felix, additional, Langner, Soenke, additional, Rummel, Christian, additional, Wiest, Roland, additional, Martin, Pascal, additional, Kotikalapudi, Raviteja, additional, Bender, Benjamin, additional, O’Brien, Terence J., additional, Sinclair, Benjamin, additional, Vivash, Lucy, additional, Kwan, Patrick, additional, Desmond, Patricia M., additional, Lui, Elaine, additional, Duma, Gian Marco, additional, Bonanni, Paolo, additional, Ballerini, Alice, additional, Vaudano, Anna Elisabetta, additional, Meletti, Stefano, additional, Tondelli, Manuela, additional, Alhusaini, Saud, additional, Doherty, Colin P., additional, Cavalleri, Gianpiero L., additional, Delanty, Norman, additional, Kälviäinen, Reetta, additional, Jackson, Graeme D., additional, Kowalczyk, Magdalena, additional, Mascalchi, Mario, additional, Semmelroch, Mira, additional, Thomas, Rhys H., additional, Soltanian-Zadeh, Hamid, additional, Davoodi-Bojd, Esmaeil, additional, Zhang, Junsong, additional, Lenge, Matteo, additional, Guerrini, Renzo, additional, Bartolini, Emanuele, additional, Hamandi, Khalid, additional, Foley, Sonya, additional, Rüber, Theodor, additional, Bauer, Tobias, additional, Weber, Bernd, additional, Caldairou, Benoit, additional, Depondt, Chantal, additional, Absil, Julie, additional, Carr, Sarah J. A., additional, Abela, Eugenio, additional, Richardson, Mark P., additional, Devinsky, Orrin, additional, Pardoe, Heath, additional, Severino, Mariasavina, additional, Striano, Pasquale, additional, Tortora, Domenico, additional, Kaestner, Erik, additional, Hatton, Sean N., additional, Arienzo, Donatello, additional, Vos, Sjoerd B., additional, Ryten, Mina, additional, Taylor, Peter N., additional, Duncan, John S., additional, Whelan, Christopher D., additional, Galovic, Marian, additional, Winston, Gavin P., additional, Thomopoulos, Sophia I., additional, Thompson, Paul M., additional, Sisodiya, Sanjay M., additional, Labate, Angelo, additional, McDonald, Carrie R., additional, Caciagli, Lorenzo, additional, Bernasconi, Neda, additional, Bernasconi, Andrea, additional, Larivière, Sara, additional, Schrader, Dewi, additional, and Bernhardt, Boris C., additional

Published
2024
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40. Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA‐Epilepsy study

Author

Kerestes, Rebecca, primary, Perry, Andrew, additional, Vivash, Lucy, additional, O'Brien, Terence J., additional, Alvim, Marina K. M., additional, Arienzo, Donatello, additional, Aventurato, Ítalo K., additional, Ballerini, Alice, additional, Baltazar, Gabriel F., additional, Bargalló, Núria, additional, Bender, Benjamin, additional, Brioschi, Ricardo, additional, Bürkle, Eva, additional, Caligiuri, Maria Eugenia, additional, Cendes, Fernando, additional, de Tisi, Jane, additional, Duncan, John S., additional, Engel, Jerome P., additional, Foley, Sonya, additional, Fortunato, Francesco, additional, Gambardella, Antonio, additional, Giacomini, Thea, additional, Guerrini, Renzo, additional, Hall, Gerard, additional, Hamandi, Khalid, additional, Ives‐Deliperi, Victoria, additional, João, Rafael B., additional, Keller, Simon S., additional, Kleiser, Benedict, additional, Labate, Angelo, additional, Lenge, Matteo, additional, Marotta, Cassandra, additional, Martin, Pascal, additional, Mascalchi, Mario, additional, Meletti, Stefano, additional, Owens‐Walton, Conor, additional, Parodi, Costanza B., additional, Pascual‐Diaz, Saül, additional, Powell, David, additional, Rao, Jun, additional, Rebsamen, Michael, additional, Reiter, Johannes, additional, Riva, Antonella, additional, Rüber, Theodor, additional, Rummel, Christian, additional, Scheffler, Freda, additional, Severino, Mariasavina, additional, Silva, Lucas S., additional, Staba, Richard J., additional, Stein, Dan J., additional, Striano, Pasquale, additional, Taylor, Peter N., additional, Thomopoulos, Sophia I., additional, Thompson, Paul M., additional, Tortora, Domenico, additional, Vaudano, Anna Elisabetta, additional, Weber, Bernd, additional, Wiest, Roland, additional, Winston, Gavin P., additional, Yasuda, Clarissa L., additional, Zheng, Hong, additional, McDonald, Carrie R., additional, Sisodiya, Sanjay M., additional, and Harding, Ian H., additional

Published
2024
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45. Platelet Function Monitoring Performed after Carotid Stenting during Endovascular Stroke Treatment Predicts Outcome

Author

Ciolli, Ludovico, Lelli, Nicoletta, Rosafio, Francesca, Maffei, Stefania, Sacchetti, Federico, Vandelli, Laura, Dell'Acqua, Maria Luisa, Picchetto, Livio, Borzì, Giuseppe Maria, Ricceri, Riccardo, Pentore, Roberta, Tondelli, Manuela, Vandelli, Gabriele, Rodríguez-Villatoro, Noelia, Meletti, Stefano, Zini, Andrea, Vallone, Stefano, and Bigliardi, Guido

Published
2021
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46. Intravenous brivaracetam in status epilepticus: A multicentric retrospective study in Italy

Author

Orlandi, Niccolò, Bartolini, Emanuele, Audenino, Daniela, Coletti Moja, Mario, Urso, Lidia, d'Orsi, Giuseppe, Pauletto, Giada, Nilo, Annacarmen, Zinno, Lucia, Cappellani, Roberto, Zummo, Leila, Giordano, Antonello, Dainese, Filippo, Nazerian, Peiman, Pescini, Francesca, Beretta, Simone, Dono, Fedele, Gaudio, Luigi del, Ferlisi, Monica, Marino, Daniela, Piccioli, Marta, Renna, Rosaria, Rosati, Eleonora, Rum, Adriana, Strigaro, Gionata, Giovannini, Giada, Meletti, Stefano, Cavalli, Salvatore M., Contento, Margherita, Cottone, Salvatore, Di Claudio, Maria Teresa, Florindo, Irene, Guadagni, Martina, Kiferle, Lorenzo, Lazzaretti, Delia, Lazzari, Matilde, Coco, Daniele Lo, Pradella, Silvia, Rikani, Klaudio, Rodorigo, Davide, Sabetta, Annarita, Sicurella, Luigi, Tontini, Valentina, Turchi, Giulia, Vaudano, Anna E., and Zanoni, Tiziano

Published
2021
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47. The management of epilepsy in clinical practice: Do the timing and severity of the disease influence the priorities of patients and the caring physicians? Data from the EPINEEDS study

Author

Pulitano, Patrizia, Cagnetti, Claudia, Baldinelli, Sara, La Neve, Angela, Tappatà, Maria, Francavilla, Teresa, De Maria, Giovanni, Sofia, Vito, Giuliano, Loretta, Mainieri, Greta, Fatuzzo, Daniela, Belcastro, Vincenzo, Elia, Maurizio, D'Orsi, Giuseppe, Lalla, Alessandra, Salmaggi, Andrea, Brigo, Francesco, Magaudda, Adriana, Pisani, Francesco, Galletta, Santi, Pisani, Laura R., Raffaele, Massimo, Cosenza, Domenico, Villani, Flavio S., Quintas, Rui M.M., Cervellione, Rosa, Borroni, Simona, Meletti, Stefano, Ferrarese, Carlo, Barbella, Giuseppina, Di Francesco, Jacopo, Bogliun, Graziella, Beretta, Simone, Galimberti, Carlo A., Cantisani, Teresa A., Cecconi, Michela, Celani, Maria G., Papetti, Rossella, Giorgi, Filippo S., Aguglia, Umberto, Gasparini, Sara, Ferlazzo, Edoardo, Manganotti, Paolo, Crichiutti, Giovanni, Bravar, Giulia, Enia, Gabriele, Giussani, Giorgia, Bianchi, Elisa, Mecarelli, Oriano, and Beghi, Ettore

Published
2021
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49. The Epilepsy Surgery Satisfaction Questionnaire (ESSQ-19): Italian language translation and validation.

Author

Burani, Margherita, Giovannini, Giada, Pugnaghi, Matteo, Orlandi, Niccolò, Cioclu, Maria Cristina, Vaudano, Anna Elisabetta, Moriconi, Elisa, Pavesi, Giacomo, and Meletti, Stefano

Subjects
EPILEPSY surgery, ITALIAN language, TRANSLATING & interpreting, SATISFACTION, PATIENT satisfaction, TEMPORAL lobectomy, PEDIATRIC surgery
Abstract

Objective: Epilepsy surgery can be proposed as a treatment option in people with focal epilepsy, however satisfaction with epilepsy surgery in Italy remains unknown. We aimed to validate in Italy an instrument to measure patient satisfaction with epilepsy surgery, the 19-item Epilepsy Surgery Satisfaction Questionnaire (ESSQ-19). Methods: Consecutive patients with epilepsy who received epilepsy surgery between the years 2018–2021 at Modena Academic Hospital were recruited and provided clinical and demographic data. The Italian version of the ESSQ-19 and other three questionnaires were completed to assess construct validity. To evaluate the validity and reliability of the tool Spearman's rank correlation, and internal consistency analysis were performed. Results: 66 out of 79 eligible patients participated in the study (22 females; median age 37 years). The mean values of satisfaction for each domain of the IT-ESSQ-19 were: seizure control 83.4; (SD 16.7), psychosocial functioning 79.3 (SD 17.1), surgical complications 90.8 (SD 14.9), and recovery from surgery 81.4 (SD 16.9). The mean summary score was 83.7 (SD 13.3). The questionnaire was shown to have high internal consistency in the four domains (Cronbach's alpha = 0.82–0.93), and no significant floor/ceiling effects of the summary score. The ESSQ-19 scores significantly correlated with other instruments to support construct validity. It also demonstrated good discriminant validity for being seizure free [AUC 0.72; 95% CI = 0.56–0.88], and to endorse depression [AUC 0.76, 95% CI = 0.56–0.96]. Significance: The Italian version of the ESSQ-19 is a reliable and valid self-reported questionnaire for assessing patient satisfaction with epilepsy surgery. [ABSTRACT FROM AUTHOR]

Published
2024
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50. A profile of azetukalner for the treatment of epilepsy: from pharmacology to potential for therapy.

Author

Lattanzi, Simona, Trinka, Eugen, Meletti, Stefano, Striano, Pasquale, Matricardi, Sara, Silvestrini, Mauro, and Brigo, Francesco

Subjects
EPILEPSY, LITERATURE reviews, CLINICAL trials, PHARMACOLOGY, SEIZURES (Medicine), SUDDEN death, POTASSIUM channels
Abstract

Epilepsies are a group of heterogeneous brain disorder, and antiseizure medications (ASMs) are the mainstay of treatment. Despite the availability of more than 30 drugs, at least one third of individuals with epilepsy are drug-resistant. This emphasizes the need for novel compounds that combine efficacy with improved tolerability. A literature review on the pharmacology, efficacy, tolerability, and safety of azetukalner (XEN1101), a second-generation opener of neuronal potassium channels currently in Phase 3 development as ASM. Results from the phase 2b clinical trial strongly support the ongoing clinical development of azetukalner as a new ASM. Its pharmacokinetic properties support convenient once-daily dosing, eliminating the need for titration at initiation or tapering at the conclusion of treatment. CYP3A4 is the main enzyme involved in its metabolism and drug-drug interactions can affect the drug exposure. Preliminary analysis of an ongoing open-label study reveals no reported pigmentary abnormalities. The upcoming Phase 3 clinical trials are expected to provide further insight into the efficacy, tolerability, and safety of azetukalner in treating focal-onset and primary generalized tonic-clonic seizures. Structurally distinct from currently marketed ASMs, azetukalner has the potential to be the only-in-class Kv7.2/7.3 opener on the market upon regulatory approval. [ABSTRACT FROM AUTHOR]

Published
2024
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