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6. 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

7. Human expressive movements: The boundary between health and disease from a contaminated perspective

Author

Pascarella, Angelo, Gasparini, Sara, Bellia, Angela, Bertolotti, Enrico, Bessi, Benedetta, Cantalupo, Gaetano, Centonze, Diego, Cianci, Vittoria, Cornaggia, Cesare M., Costabile, Felice, Gambardella, Antonio, Labate, Angelo, Malacrino, Carmelo, Magaudda, Adriana, Mula, Marco, Paladin, Francesco, Pizza, Giovanni, Tassinari, Carlo Alberto, Vermiglio, Elisa, Ferlazzo, Edoardo, and Aguglia, Umberto

Published
2024
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8. 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

9. 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

10. 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

11. 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

12. Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study

Author

Larivière, Sara, Rodríguez-Cruces, Raúl, Royer, Jessica, Caligiuri, Maria Eugenia, Gambardella, Antonio, Concha, Luis, Keller, Simon S, Cendes, Fernando, Yasuda, Clarissa, 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, 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, Tortora, Domenico, Hatton, Sean N, Vos, Sjoerd B, 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
Mental Health, Brain Disorders, Epilepsy, Clinical Research, Neurosciences, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological
Abstract

Epilepsy is increasingly conceptualized as a network disorder. In this cross-sectional mega-analysis, we integrated neuroimaging and connectome analysis to identify network associations with atrophy patterns in 1021 adults with epilepsy compared to 1564 healthy controls from 19 international sites. In temporal lobe epilepsy, areas of atrophy colocalized with highly interconnected cortical hub regions, whereas idiopathic generalized epilepsy showed preferential subcortical hub involvement. These morphological abnormalities were anchored to the connectivity profiles of distinct disease epicenters, pointing to temporo-limbic cortices in temporal lobe epilepsy and fronto-central cortices in idiopathic generalized epilepsy. Negative effects of age on atrophy further revealed a strong influence of connectome architecture in temporal lobe, but not idiopathic generalized, epilepsy. Our findings were reproduced across individual sites and single patients and were robust across different analytical methods. Through worldwide collaboration in ENIGMA-Epilepsy, we provided deeper insights into the macroscale features that shape the pathophysiology of common epilepsies.

Published
2020

13. White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study

Author

Hatton, Sean N, Huynh, Khoa H, Bonilha, Leonardo, Abela, Eugenio, Alhusaini, Saud, Altmann, Andre, Alvim, Marina KM, Balachandra, Akshara R, Bartolini, Emanuele, Bender, Benjamin, Bernasconi, Neda, Bernasconi, Andrea, Bernhardt, Boris, Bargallo, Núria, Caldairou, Benoit, Caligiuri, Maria E, Carr, Sarah JA, Cavalleri, Gianpiero L, Cendes, Fernando, Concha, Luis, Davoodi-bojd, Esmaeil, Desmond, Patricia M, Devinsky, Orrin, Doherty, Colin P, Domin, Martin, Duncan, John S, Focke, Niels K, Foley, Sonya F, Gambardella, Antonio, Gleichgerrcht, Ezequiel, Guerrini, Renzo, Hamandi, Khalid, Ishikawa, Akari, Keller, Simon S, Kochunov, Peter V, Kotikalapudi, Raviteja, Kreilkamp, Barbara AK, Kwan, Patrick, Labate, Angelo, Langner, Soenke, Lenge, Matteo, Liu, Min, Lui, Elaine, Martin, Pascal, Mascalchi, Mario, Moreira, José CV, Morita-Sherman, Marcia E, O’Brien, Terence J, Pardoe, Heath R, Pariente, José C, Ribeiro, Letícia F, Richardson, Mark P, Rocha, Cristiane S, Rodríguez-Cruces, Raúl, Rosenow, Felix, Severino, Mariasavina, Sinclair, Benjamin, Soltanian-Zadeh, Hamid, Striano, Pasquale, Taylor, Peter N, Thomas, Rhys H, Tortora, Domenico, Velakoulis, Dennis, Vezzani, Annamaria, Vivash, Lucy, von Podewils, Felix, Vos, Sjoerd B, Weber, Bernd, Winston, Gavin P, Yasuda, Clarissa L, Zhu, Alyssa H, Thompson, Paul M, Whelan, Christopher D, Jahanshad, Neda, Sisodiya, Sanjay M, and McDonald, Carrie R

Subjects
Genetics, Neurodegenerative, Epilepsy, Clinical Research, Brain Disorders, Neurosciences, Biomedical Imaging, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Brain, Diffusion Magnetic Resonance Imaging, Epileptic Syndromes, Female, Humans, Image Interpretation, Computer-Assisted, Male, Middle Aged, White Matter, epilepsy, diffusion tensor imaging, multisite analysis, white matter, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

The epilepsies are commonly accompanied by widespread abnormalities in cerebral white matter. ENIGMA-Epilepsy is a large quantitative brain imaging consortium, aggregating data to investigate patterns of neuroimaging abnormalities in common epilepsy syndromes, including temporal lobe epilepsy, extratemporal epilepsy, and genetic generalized epilepsy. Our goal was to rank the most robust white matter microstructural differences across and within syndromes in a multicentre sample of adult epilepsy patients. Diffusion-weighted MRI data were analysed from 1069 healthy controls and 1249 patients: temporal lobe epilepsy with hippocampal sclerosis (n = 599), temporal lobe epilepsy with normal MRI (n = 275), genetic generalized epilepsy (n = 182) and non-lesional extratemporal epilepsy (n = 193). A harmonized protocol using tract-based spatial statistics was used to derive skeletonized maps of fractional anisotropy and mean diffusivity for each participant, and fibre tracts were segmented using a diffusion MRI atlas. Data were harmonized to correct for scanner-specific variations in diffusion measures using a batch-effect correction tool (ComBat). Analyses of covariance, adjusting for age and sex, examined differences between each epilepsy syndrome and controls for each white matter tract (Bonferroni corrected at P

Published
2020

14. 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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15. Late epileptic seizures following cerebral venous thrombosis: a systematic review and meta-analysis

Author

Gasparini, Sara, Neri, Sabrina, Brigo, Francesco, Cianci, Vittoria, Mammì, Anna, Pascarella, Angelo, Manzo, Lucia, Benna, Paolo, Striano, Pasquale, Martino, Tommaso, Romoli, Michele, Muccioli, Lorenzo, Nilo, Annacarmen, Valente, Mariarosaria, Cagnetti, Claudia, Labate, Angelo, Gambardella, Antonio, Pisani, Francesco, Casciato, Sara, Di Gennaro, Giancarlo, Belcastro, Vincenzo, Aguglia, Umberto, and Ferlazzo, Edoardo

Published
2022
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18. 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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21. Predictive factors of Status Epilepticus and its recurrence in patients with adult-onset seizures: a multicenter, long follow-up cohort study.

Author

Gasparini, Sara, Ferlazzo, Edoardo, Gigli, Gianluigi, Pauletto, Giada, Nilo, Annacarmen, Lettieri, Christian, Bilo, Leonilda, Labate, Angelo, Fortunato, Francesco, Varrasi, Claudia, Cantello, Roberto, D'Aniello, Alfredo, Gennaro, Giancarlo Di, d'Orsi, Giuseppe, Sabetta, Annarita, Claudio, Maria T. Di, Avolio, Carlo, Dono, Fedele, Evangelista, Giacomo, Cavalli, Salvatore M., Cianci, Vittoria, Ascoli, Michele, Mastroianni, Giovanni, Lobianco, Concetta, Neri, Sabrina, Mercuri, Sergio, Mammì, Anna, Gambardella, Antonio, Beghi, Ettore, Torino, Claudia, Tripepi, Giovanni, and Aguglia, Umberto

Published
2021
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27. 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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28. Myoclonus: Differential diagnosis and current management

Author

Riva, Antonella, primary, D'Onofrio, Gianluca, additional, Ferlazzo, Edoardo, additional, Pascarella, Angelo, additional, Pasini, Elena, additional, Franceschetti, Silvana, additional, Panzica, Ferruccio, additional, Canafoglia, Laura, additional, Vignoli, Aglaia, additional, Coppola, Antonietta, additional, Badioni, Valeria, additional, Beccaria, Francesca, additional, Labate, Angelo, additional, Gambardella, Antonio, additional, Romeo, Antonino, additional, Capovilla, Giuseppe, additional, Michelucci, Roberto, additional, Striano, Pasquale, additional, and Belcastro, Vincenzo, additional

Published
2024
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32. A case of frontal lobe seizures with 'dancing‐like' semiology.

Author

Atanasio, Giorgia, Germanò, Antonio, Granata, Francesca, Tomaiuolo, Francesco, and Labate, Angelo

Abstract

Background and purpose: 'Dancing‐like' semiology is extremely rare and described in few case reports. It is characterized by rhythmic, oscillatory movements of the pelvis and/or limbs during which the subject appears to be dancing. It has been associated with both the frontal and temporal epileptic zone; however, the possible network involved in these fascinating seizures is unclear. Methods: The case of a 45‐year‐old woman suffering from drug‐resistant focal epilepsy with multi‐day seizures of bizarre semiology is described. A structural and perfusion magnetic resonance imaging study (interictal and peri‐ictal) and video‐electroencephalograms were carried out, and several home videos were employed. A vagal stimulator was implanted. Results: Home videos documented the 'dancing' semiology of seizures better than video‐ electroencephalogram recordings. The imaging study revealed a focal frontal polymicrogyria with a peri‐ictal cerebral blood flow increase at the perisylvian lesion foci. The combination of add‐on cenobamate and vagal nerve stimulation resulted in complete seizure freedom. Conclusion: The unusual and complex dancing‐like semiology observed during our patient's seizures adds to the repertoire of fascinating complex motor manifestations of frontal lobe epilepsy. [ABSTRACT FROM AUTHOR]

Published
2024
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33. HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature

Author

DiFrancesco, Jacopo C., Castellotti, Barbara, Milanesi, Raffaella, Ragona, Francesca, Freri, Elena, Canafoglia, Laura, Franceschetti, Silvana, Ferrarese, Carlo, Magri, Stefania, Taroni, Franco, Costa, Cinzia, Labate, Angelo, Gambardella, Antonio, Solazzi, Roberta, Binda, Anna, Rivolta, Ilaria, Di Gennaro, Giancarlo, Casciato, Sara, D’Incerti, Ludovico, Barbuti, Andrea, DiFrancesco, Dario, Granata, Tiziana, and Gellera, Cinzia

Published
2019
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34. MR-Guided Focused Ultrasound for Refractory Epilepsy: Where Are We Now?

Author

Labate, Angelo, primary, Bertino, Salvatore, additional, Morabito, Rosa, additional, Smorto, Chiara, additional, Militi, Annalisa, additional, Cammaroto, Simona, additional, Anfuso, Carmelo, additional, Tomaiuolo, Francesco, additional, Tonin, Paolo, additional, Marino, Silvia, additional, Cerasa, Antonio, additional, and Quartarone, Angelo, additional

Published
2023
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35. The real-world effectiveness of intravenous brivaracetam as a second-line treatment in status epilepticus

Author

Martellino, Chiara, primary, Laganà, Angelina, additional, Atanasio, Giorgia, additional, Lamanna, Fabio, additional, Attardo, Silvia, additional, Cascino, Simona, additional, De Luca, Marcella, additional, Pardeo, Orazio, additional, Giacobbe, Giuseppa, additional, Tripepi, Giovanni, additional, Roberti, Roberta, additional, Granata, Francesca, additional, Morace, Carmela, additional, Russo, Emilio, additional, and Labate, Angelo, additional

Published
2023
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36. 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, additional, Alvim, Marina K.M., additional, Arienzo, Donatello, additional, Aventurato, Ìtalo 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, Rüeber, 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 I, additional, Wiest, Roland, additional, Winston, Gavin P., additional, Yasuda, Clarissa L., additional, Zheng, Hong, additional, McDonald, Carrie, additional, Sisodiya, Sanjay, additional, and Harding, Ian H., additional

Published
2023
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37. Epilepsy with generalized tonic‐clonic seizures alone: electroclinical features and prognostic patterns

Author

Cerulli Irelli, Emanuele, primary, Gesche, Joanna, additional, Schlabitz, Sophie, additional, Fortunato, Francesco, additional, Catania, Cecilia, additional, Morano, Alessandra, additional, Labate, Angelo, additional, Vorderwülbecke, Bernd J., additional, Gambardella, Antonio, additional, Baykan, Betül, additional, Holtkamp, Martin, additional, Di Bonaventura, Carlo, additional, and Beier, Christoph P., additional

Published
2023
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38. Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry

Author

Faravelli, Francesca, Pantaleoni, Chiara, Robert-Gnansia, Elisabeth, Cabral-Lim, Leonor, Čebular, Boštjan, De Marinis, Alejandro, Kälviäinen, Reetta, Khomeriki, Ketevan, Kiteva-Trencevska, Gordana, Kochen, Silvia, Kurthen, Martin, Luef, Gerhard, Martinez Ferri, Meritxell, Milovanović, Maja, Nakken, Karl Otto, Neufeld, Miri, Ohtani, Hideyuki, Russell, Aline, Safcák, Vladimír, Schmitz, Bettina, Specchio, Luigi Maria, Tettenborn, Barbara, van Puijenbroek, Eugene, Yu, Hsiang-Yu, Zarubova, Jana, Albretsen, Claus, Alvestad, Silje, Andersen, Noemi Becser, Antonini, Luisa, Arentsen, Jens, Aurlien, Dag, Barzinji, Ismael, Becerra Cuñat, Juan Luis, Bohorquez Morera, Natalia, Brodie, Martin J., Brodtkorb, Eylert, Broglio, Laura, Bruun Christensen, Elsebeth, Bušek, Petr, Cagnetti, Claudia, Canevini, Maria Paola, Carius, Astrid, Castro Vilanova, Maria Dolores, Cecconi, Michela, Chang, T-Y, Christensen, Jakob, De Maria, Giovanni, Dennig, Dieter, Diputado, Brenda, Ertresvåg, Janne Marit, Escartin, Toni, Flügel, Dominique, Forsom Sondal, Birgitte, Foschi, Nicoletta, Franza, Albertina, Fukushima, Katsuyuki, Gambardella, Antonio, Garamendi Ruiz, Iñigo, Gauffin, Helena, Gellert, Pia, Gjerstad, Leif, Gordon, Lisa, Haggag, Katrine, Halawa, Imad, Heikinheimo-Connell, Terttu, Hendgen, Tim, Hertz, Zarouhi, Hildenhagen, Odo, Hödl, Stephanie, Hogenesch, Ineke, Huuse Farmen, Anette, Inoue, Yushi, Juhl, Stefan, Kato, Masaaki, Kenou Van Rijckevorssel, Germaine, Kluck, E., Krijtová, Hana, Kumlien, Eva, Labate, Angelo, Lasch, Theresa, Lindsten, Hans, Listonova, Renata, Lossius, Rasmus, Lundgren, Anders, Malmgren, Kristina, Marečková, Iva, Marino, Daniela, Mattsson, Peter, McGonigal, Aileen, Miesczanleh, Katarzyna, Mizobuchi, Masahiro, Mostacci, Barbara, Müffelmann, Birgit, Navn, Uden, Nilsson, Anders, Oehl, Bernhard, Ortenzi, Andrea, Osseforth, Judith, Paggi, Aldo, Pastor, Eliana, Pedersen, Birthe, Petrenaite, Vaiva, Pignatta, Pietro, Pires, Isabel, Pistelli, Alessandra, Riuz Gimenez, Jesús Antonio, Rocchi, Raffaele, Rodam, Lone, Roivainen, Reina, Rytířová, Gisela, Samsonsen, Christian, Sansa Fayos, Gemma, Saukkonen, Anna Maija, Sikiric, Alma, Sopelana Garay, David, Steinhoff, Bernhard, Strandberg, Maria, Svendsen, Torleiv, Tauboll, Erik, Terada, Kiyohito, Trivisano, Marina, Turner, Katherine, Worm, Mogens, Zakharia, Elias, Zambrelli, Elena, Zarifi-Oskoie, Morteza, Tomson, Torbjörn, Battino, Dina, Bonizzoni, Erminio, Craig, John, Lindhout, Dick, Perucca, Emilio, Sabers, Anne, Thomas, Sanjeev V, and Vajda, Frank

Published
2018
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39. Familial mesial temporal lobe epilepsy: clinical spectrum and genetic evidence for a polygenic architecture

Author

Harris, Rebekah V, primary, Oliver, Karen L, additional, Perucca, Piero, additional, Striano, Pasquale, additional, Labate, Angelo, additional, Riva, Antonella, additional, Grinton, Bronwyn E, additional, Reid, Joshua, additional, Hutton, Jessica, additional, Todaro, Marian, additional, O'Brien, Terence J, additional, Kwan, Patrick, additional, Sadleir, Lynette G, additional, Mullen, Saul A, additional, Dazzo, Emanuela, additional, Crompton, Douglas E, additional, Scheffer, Ingrid E, additional, Bahlo, Melanie, additional, Nobile, Carlo, additional, Gambardella, Antonio, additional, and Berkovic, Samuel F, additional

Published
2023
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41. The broad-spectrum activity of perampanel: state of the art and future perspective of AMPA antagonism beyond epilepsy

Author

Perversi, Fabio, primary, Costa, Cinzia, additional, Labate, Angelo, additional, Lattanzi, Simona, additional, Liguori, Claudio, additional, Maschio, Marta, additional, Meletti, Stefano, additional, Nobili, Lino, additional, Operto, Francesca Felicia, additional, Romigi, Andrea, additional, Russo, Emilio, additional, and Di Bonaventura, Carlo, additional

Published
2023
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42. Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences

Author

Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Caraballo, Roberto H, Giuliano, Loretta, Yilmaz, Tulay, Morano, Alessandra, Panagiotakaki, Eleni, Operto, Francesca F, Gonzalez Giraldez, Beatriz, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Balestrini, Simona, Fortunato, Francesco, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Kasteleijn-Nolst Trenité, Dorothée G A, Gambardella, Antonio, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexis, Striano, Pasquale, Di Bonaventura, Carlo, Irelli, Emanuele Cerulli, Cocchi, Enrico, Ramantani, Georgia, Caraballo, Roberto H, Giuliano, Loretta, Yilmaz, Tulay, Morano, Alessandra, Panagiotakaki, Eleni, Operto, Francesca F, Giraldez, Beatriz Gonzalez, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Balestrini, Simona, Fortunato, Francesco, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Kasteleijn-Nolst Trenité, Dorothée G A, Gambardella, Antonio, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexi, Striano, Pasquale, Di Bonaventura, Carlo, and University of Zurich

Subjects
Myoclonus, Epilepsy, Eyelids, 610 Medicine & health, Electroencephalography, Seizures, Febrile, Substance Withdrawal Syndrome, Febrile, 2728 Neurology (clinical), Status Epilepticus, 10036 Medical Clinic, Recurrence, Seizures, Child, Preschool, Humans, Anticonvulsants, Neurology (clinical), Preschool, Child, Retrospective Studies
Abstract

Background and ObjectivesEyelid myoclonia (EM) with absences (EMA) is a generalized epilepsy syndrome with a prognosis and clinical characteristics that are still partially undefined. We investigated electroclinical endophenotypes and long-term seizure outcome in a large cohort of patients with EMA.MethodsIn this multicenter retrospective study, patients with EMA with ≥5 years of follow-up were included. We investigated prognostic patterns and sustained terminal remission (STR), along with their prognostic factors. Moreover, a 2-step cluster analysis was used to investigate the presence of distinct EMA endophenotypes.ResultsWe included 172 patients with a median age at onset of 7 years (interquartile range [IQR] 5–10 years) and a median follow-up duration of 14 years (IQR 8.25–23.75 years). Sixty-six patients (38.4%) displayed a nonremission pattern, whereas remission and relapse patterns were encountered in 56 (32.6%) and 50 (29.1%) participants. Early epilepsy onset, history of febrile seizures (FS), and EM status epilepticus significantly predicted a nonremission pattern according to multinomial logistic regression analysis. STR was achieved by 68 (39.5%) patients with a mean latency of 14.05 years (SD ±12.47 years). Early epilepsy onset, psychiatric comorbid conditions, and a history of FS and generalized tonic-clonic seizures were associated with a lower probability of achieving STR according to a Cox regression proportional hazards model. Antiseizure medication (ASM) withdrawal was attempted in 62 of 172 patients, and seizures recurred in 74.2%. Cluster analysis revealed 2 distinct clusters with 86 patients each. Cluster 2, which we defined as EMA-plus, was characterized by an earlier age at epilepsy onset, higher rate of intellectual disability, EM status epilepticus, generalized paroxysmal fast activity, self-induced seizures, FS, and poor ASM response, whereas cluster 1, the EMA-only cluster, was characterized by a higher rate of seizure remission and more favorable neuropsychiatric outcome.DiscussionEarly epilepsy onset was the most relevant prognostic factor for poor treatment response. A long latency between epilepsy onset and ASM response was observed, suggesting the effect of age-related brain changes in EMA remission. Last, our cluster analysis showed a clear-cut distinction of patients with EMA into an EMA-plus insidious subphenotype and an EMA-only benign cluster that strongly differed in terms of remission rates and cognitive outcomes.

Published
2022

43. Epilepsy with generalized tonic–clonic seizures alone: Electroclinical features and prognostic patterns.

Author

Cerulli Irelli, Emanuele, Gesche, Joanna, Schlabitz, Sophie, Fortunato, Francesco, Catania, Cecilia, Morano, Alessandra, Labate, Angelo, Vorderwülbecke, Bernd J., Gambardella, Antonio, Baykan, Betül, Holtkamp, Martin, Di Bonaventura, Carlo, and Beier, Christoph P.

Subjects
EPILEPSY, SEIZURES (Medicine), TERMINATION of treatment, PATIENT experience, PROGNOSIS, PATIENTS' attitudes
Abstract

Objective: Epilepsy with generalized tonic–clonic seizures alone (GTCA) is a common but poorly characterized idiopathic generalized epilepsy (IGE) syndrome. Hence, we investigated electroclinical features, seizure outcome, and antiseizure medication (ASM) withdrawal in a large cohort of GTCA patients. Methods: In this multicenter retrospective study, GTCA patients defined according to the diagnostic criteria of the International League Against Epilepsy (2022) were included. We investigated prognostic patterns, drug resistance at the last visit, and ASM withdrawal, along with their prognostic factors. Results: We included 247 patients with a median (interquartile range [IQR]) age at onset of 17 years (13–22) and a median follow‐up duration of 10 years (IQR = 5–20). Drug resistance at the last visit was observed in 40 (16.3%) patients, whereas the median latency to achieve 2‐year remission was 24 months (IQR = 24–46.5) with a median number of 1 (IQR = 1–2) ASM. During the long‐term follow‐up (i.e., 202 patients followed ≥5‐years after the first ASM trial), 69 (34.3%) patients displayed an early remission pattern and 36 (17.9%) patients displayed a late remission pattern, whereas 16 (8%) and 73 (36.3%) individuals had no‐remission and relapsing–remitting patterns, respectively. Catamenial seizures and morning predominance of generalized tonic–clonic seizures (GTCS) independently predicted drug resistance at the last visit according to multivariable logistic regression. Treatment withdrawal was attempted in 63 (25.5%) patients, with 59 (93.7%) of them having at least a 12‐month follow‐up after ASM discontinuation. At the last visit, 49 (83%) of those patients had experienced GTCS recurrence. A longer duration of seizure freedom was the only factor predicting a higher chance of successful ASM withdrawal according to multivariable Cox regression. Significance: GTCA could be considered a relatively easily manageable IGE syndrome, with a low rate of drug resistance and a high prevalence of early response to treatment. Nevertheless, a considerable proportion of patients experience relapsing patterns of seizure control, highlighting the need for appropriate counseling and lifestyle recommendations. [ABSTRACT FROM AUTHOR]

Published
2024
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47. Spectrum of epilepsy with eyelid myoclonia: Delineation of disease subtypes from a large multicenter study

Author

Projectafdeling FNE, Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Riva, Antonella, Caraballo, Roberto Horacio, Morano, Alessandra, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F., Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna Teresa, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard Josef, Gambardella, Antonio, Kasteleijn-NolstTrenite, Dorothee G.A., Baykan, Betul, Sisodiya, Sanjay M., Arzimanoglou, Alexis, Striano, Pasquale, Di Bonaventura, Carlo, the EMA Study Group, Projectafdeling FNE, Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Riva, Antonella, Caraballo, Roberto Horacio, Morano, Alessandra, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F., Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna Teresa, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard Josef, Gambardella, Antonio, Kasteleijn-NolstTrenite, Dorothee G.A., Baykan, Betul, Sisodiya, Sanjay M., Arzimanoglou, Alexis, Striano, Pasquale, Di Bonaventura, Carlo, and the EMA Study Group

Published
2023

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