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6. Consensus statements on the information to deliver after a febrile seizure

Author

Loussouarn, Anna, Devlin, Anita, Bast, Thomas, Benoist, Grégoire, Corrard, François, Cross, Helen, Ferretti, Alessandro, Viguer, Fernando Garcia-Sala, Guerrini, Renzo, Klepper, Joerg, Meissner, Thomas, Milh, Mathieu, Poltorak, Violeta, Raucci, Umberto, San Antonio-Arce, Victoria, Sie, Adrian, Smeyers, Patricia, Specchio, Nicola, Sutcliffe, Alastair, Trauffler, Adeline, Dozières-Puyravel, Blandine, and Auvin, Stéphane

Published
2021
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8. Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study

Author

Aichholzer, Martin, Amorim, Isabel, Aparicio, Javier, Aronica, Eleonora, Arzimanoglou, Alexis, Barba, Carmen, Beck, Jürgen, Becker, Albert, Beckervordersandforth, Jan C, Bien, Christian G, Blümcke, Ingmar, Bodi, Istvan, Braun, Kees PJ, Catenoix, Helene, Chassoux, Francine, Chipaux, Mathilde, Cloppenborg, Thomas, Coras, Roland, Cross, J Helen, De Palma, Luca, De Tisi, Jane, Deleo, Francesco, Devaux, Bertrand, Di Gennaro, Giancarlo, Dorfmüller, Georg, Duncan, John S, Elger, Christian, Ernst, Katharina, Esposito, Vincenzo, Feucht, Martha, Gadze, Zeljka Petelin, Garbelli, Rita, Geleijns, Karin, Gil-Nagel, Antonio, Grote, Alexander, Grunwald, Thomas, Guerrini, Renzo, Hamer, Hajo, Honavar, Mrinalini, Jacques, Thomas S, Jakovcevic, Antonia, Jutila, Leena, Kalina, Adam, Kälviäinen, Reetta, Klein, Karl Martin, Koenig, Kristina, Krsek, Pavel, Kudernatsch, Manfred, Kudr, Martin, Lamberink, Herm J, Malmgren, Kristina, Marusic, Petr, Melikyan, Armen, Menzler, Katja, Noachtar, Soheyl, Otte, Willem M, Özkara, Çiğdem, Pieper, Tom, Pimentel, Jose, Raicevic, Savo, Rheims, Sylvain, Ribeiro, Joana, Rosenow, Felix, Rössler, Karl, Rydenhag, Bertil, Sales, Francisco, San Antonio-Arce, Victoria, Schaller, Karl Lothar, Schijns, Olaf, Scholl, Theresa, Schramm, Johannes, Schulze-Bonhage, Andreas, Sciot, Raf, Seeck, Margitta, Shishkina, Lyudmila, Sokic, Dragoslav, Specchio, Nicola, Theys, Tom, Thom, Maria, Delgado, Rafael Toledano, Toulouse, Joseph, Uzan, Mustafa, van Loon, Johannes, Van Paesschen, Wim, von Oertzen, Tim J, Jansen, Floor, Leijten, Frans, van Rijen, Peter, Spliet, Wim GM, Mühlebner, Angelika, Kasper, Burkhard S, Fauser, Susanne, Polster, Tilman, Kalbhenn, Thilo, Delev, Daniel, McEvoy, Andrew, Miserocchi, Anna, Landré, Elisabeth, Turak, Bares, Varlet, Pascale, Ferrand-Sorbets, Sarah, Fohlen, Martine, Bulteau, Christine, Edelvik, Anna, Shah, Mukesch J, Scheiwe, Christian, Delicado, Eva Gutierrez, Tisdall, Martin, Eltze, Christin, Akkol, Serdar, Deniz, Kaancan, Oz, Buge, Holthausen, Hans, Hartlieb, Till, Staudt, Martin, Casciato, Sara, Quarato, Pier P, Giangaspero, Felice, Streichenberger, Nathalie, Guenot, Marc, Isnard, Jean, Valentijn, Antonio, Chang, Amanda, Mullatti, Nandini, Zamecnik, Josef, Zarubova, Jana, Tomasek, Martin, Immonen, Arto, Saarela, Anni, Rauramaa, Tuomas, Lobrinus, Johannes A, Egervari, Kristof, Momjian, Shahan, Harti, Elisabeth, Lohr, Hannah, Kroell, Judith, Vermeulen, Lynn, Cleeren, Evy, Vlasov, Pavel, Kozlova, Antonia, Vorobyev, Alexey, Goeppel, Gudrun, Samueli, Sharon, Czech, Thomas, Hainfellner, Johannes, Puttinger, Gertraud, Schwarz, Gabriele, Stefanits, Harald, Weis, Serge, Spreafico, Roberto, Villani, Flavio, Rossini, Laura, Hermsen, Anke, Knake, Susanne, Nimsky, Christopher, Carl, Barbara, Belohlavkova, Anezka, Benova, Barbora, Bisschop, Jeroen, Colon, Albert, van Kranen-Mastenbroek, Vivianne, Rouhl, Rob PW, Hoogland, Govert, Rumiá, Jordi, Ramírez-Camacho, Alia, Candela-Cantó, Santiago, Ostrowsky-Coste, Karine, Panagiotakaki, Eleni, Montavont, Alexandra, Kosal, Pascale Keo, Gokce-Samar, Zeynep, Milleret, Clara, Buccoliero, Anna M, Giordano, Flavio, Sulentic, Vlatko, Mrak, Goran, Desnica, Andrej, CarfíPavia, Giusy, De Benedictis, Alessandro, Marras, Carlo E, Bascarevic, Vladimir, Vojvodic, Nikola, Ristic, Aleksandar, Rebelo, Olinda, Aledo-Serrano, Angel, Garcia-Morales, Irene, Anciones, Carla, and Braun, Kees P J

Published
2020
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11. Epilepsy surgery in early infancy: A retrospective, multicenter study

Author

Makridis, Konstantin L., primary, Klotz, Kerstin Alexandra, additional, Ramantani, Georgia, additional, Becker, Lena‐Luise, additional, San Antonio‐Arce, Victoria, additional, Syrbe, Steffen, additional, Wagner, Kathrin, additional, Shah, Mukesch Johannes, additional, Thomale, Ulrich‐Wilhelm, additional, Tietze, Anna, additional, Elger, Christian E., additional, Borggraefe, Ingo, additional, and Kaindl, Angela M., additional

Published
2023
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12. Epilepsy surgery in early infancy: A retrospective, multicenter study

Author

Makridis, Konstantin L; https://orcid.org/0000-0002-2609-4557, Klotz, Kerstin Alexandra; https://orcid.org/0000-0002-1601-5384, Ramantani, Georgia; https://orcid.org/0000-0002-7931-2327, Becker, Lena-Luise; https://orcid.org/0000-0003-4622-8695, San Antonio-Arce, Victoria; https://orcid.org/0000-0002-2780-6560, Syrbe, Steffen, Wagner, Kathrin; https://orcid.org/0000-0003-2232-1684, Shah, Mukesch Johannes, Thomale, Ulrich-Wilhelm, Tietze, Anna, Elger, Christian E, Borggraefe, Ingo; https://orcid.org/0000-0002-8484-5945, Kaindl, Angela M; https://orcid.org/0000-0001-9454-206X, Makridis, Konstantin L; https://orcid.org/0000-0002-2609-4557, Klotz, Kerstin Alexandra; https://orcid.org/0000-0002-1601-5384, Ramantani, Georgia; https://orcid.org/0000-0002-7931-2327, Becker, Lena-Luise; https://orcid.org/0000-0003-4622-8695, San Antonio-Arce, Victoria; https://orcid.org/0000-0002-2780-6560, Syrbe, Steffen, Wagner, Kathrin; https://orcid.org/0000-0003-2232-1684, Shah, Mukesch Johannes, Thomale, Ulrich-Wilhelm, Tietze, Anna, Elger, Christian E, Borggraefe, Ingo; https://orcid.org/0000-0002-8484-5945, and Kaindl, Angela M; https://orcid.org/0000-0001-9454-206X

Abstract

Although epilepsy surgery is the only curative therapeutic approach for lesional drug-resistant epilepsy (DRE), there is reluctance to operate on infants due to a fear of complications. A recent meta-analysis showed that epilepsy surgery in the first 6 months of life can achieve seizure control in about two thirds of children. However, robust data on surgical complications and postoperative cognitive development are lacking. We performed a retrospective multicenter study of infants who underwent epilepsy surgery in the first 6 months of life. 15 infants underwent epilepsy surgery at a median age of 134 days (IQR: 58) at four centers. The most common cause was malformation of cortical development, and 13 patients underwent a hemispherotomy. Two thirds required intraoperative red blood transfusions. Severe intraoperative complications occurred in two patients including death in one infant due to cardiovascular insufficiency. At a median follow-up of 1.5 years (IQR: 1.8), 57% of patients were seizure-free. Three patients where reoperated at a later age, resulting in 79% seizure freedom. Anti-seizure medication could be reduced in two thirds, and all patients improved in their development. Our findings suggest that early epilepsy surgery can result in good seizure control and developmental improvement. However, given the perioperative risks, it should be performed only in specialized centers.

Published
2023

13. Diagnostic yield and limitations of in‐hospital documentation in patients with epilepsy.

Author

Schulze‐Bonhage, Andreas, Bruno, Elisa, Brandt, Armin, Shek, Anthony, Viana, Pedro, Heers, Marcel, Martinez‐Lizana, Eva, Altenmüller, Dirk‐Matthias, Richardson, Mark Philip, and San Antonio‐Arce, Victoria

Subjects
PEOPLE with epilepsy, DOCUMENTATION, UNIVERSITY hospitals, SEIZURES (Medicine)
Abstract

Objective: To determine the diagnostic yield of in‐hospital video–electroencephalography (EEG) monitoring to document seizures in patients with epilepsy. Methods: Retrospective analysis of electronic seizure documentation at the University Hospital Freiburg (UKF) and at King's College London (KCL). Statistical assessment of the role of the duration of monitoring, and subanalyses on presurgical patient groups and patients undergoing reduction of antiseizure medication. Results: Of more than 4800 patients with epilepsy undergoing in‐hospital recordings at the two institutions since 2005, seizures with documented for 43% (KCL) and 73% (UKF).. Duration of monitoring was highly significantly associated with seizure recordings (p <.0001), and presurgical patients as well as patients with drug reduction had a significantly higher diagnostic yield (p <.0001). Recordings with a duration of >5 days lead to additional new seizure documentation in only less than 10% of patients. Significance: There is a need for the development of new ambulatory monitoring strategies to document seizures for diagnostic and monitoring purposes for a relevant subgroup of patients with epilepsy in whom in‐hospital monitoring fails to document seizures. [ABSTRACT FROM AUTHOR]

Published
2023
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21. Clinical Perspectives on Using Remote Measurement Technology in Assessing Epilepsy, Multiple Sclerosis, and Depression: Delphi Study.

Author

Andrews, Jacob A, Craven, Michael P, Guo, Boliang, Weyer, Janice, Lees, Simon, Zormpas, Spyridon I, Thorpe, Sarah E, Devonshire, Julie, San Antonio-Arce, Victoria, Whitehouse, William P, Julie, Jessica, Malins, Sam, Hammers, Alexander, Reif, Andreas, Ruhe, Henricus G, Durbano, Federico, Barlati, Stefano, Sen, Arjune, Frederiksen, Jette L, and Martinelli, Alessandra

Subjects
EPILEPSY, MULTIPLE sclerosis, DISEASE risk factors, CENTRAL nervous system, MENTAL depression, MEDICAL personnel
Abstract

Background: Multiple sclerosis (MS), epilepsy, and depression are chronic central nervous system conditions in which remote measurement technology (RMT) may offer benefits compared with usual assessment. We previously worked with clinicians, patients, and researchers to develop 13 use cases for RMT: 5 in epilepsy (seizure alert, seizure counting, risk scoring, triage support, and trend analysis), 3 in MS (detecting silent progression, detecting depression in MS, and donating data to a biobank), and 5 in depression (detecting trends, reviewing treatment, self-management, comorbid monitoring, and carer alert). Objective: In this study, we aimed to evaluate the use cases and related implementation issues with an expert panel of clinicians external to our project consortium. Methods: We used a Delphi exercise to validate the use cases and suggest a prioritization among them and to ascertain the importance of a variety of implementation issues related to RMT. The expert panel included clinicians from across Europe who were external to the project consortium. The study had 2 survey rounds (n=23 and n=17) and a follow-up interview round (n=9). Data were analyzed for consensus between participants and for stability between survey rounds. The interviews explored the reasons for answers given in the survey. Results: The findings showed high stability between rounds on questions related to specific use cases but lower stability on questions relating to wider issues around the implementation of RMT. Overall, questions on wider issues also had less consensus. All 5 use cases for epilepsy (seizure alert, seizure counting, risk scoring, triage support, and trend analysis) were considered beneficial, with consensus among participants above the a priori threshold for most questions, although use case 3 (risk scoring) was considered less likely to facilitate or catalyze care. There was very little consensus on the benefits of the use cases in MS, although this may have resulted from a higher dropout rate of MS clinicians (50%). Participants agreed that there would be benefits for all 5 of the depression use cases, although fewer questions on use case 4 (triage support) reached consensus agreement than for depression use cases 1 (detecting trends), 2 (reviewing treatment), 3 (self-management), and 5 (carer alert). The qualitative analysis revealed further insights into each use case and generated 8 themes on practical issues related to implementation. Conclusions: Overall, these findings inform the prioritization of use cases for RMT that could be developed in future work, which may include clinical trials, cost-effectiveness studies, and the commercial development of RMT products and services. Priorities for further development include the use of RMT to provide more accurate records of symptoms and treatment response than is currently possible and to provide data that could help inform patient triage and generate timely alerts for patients and carers. [ABSTRACT FROM AUTHOR]

Published
2023
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22. A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies

Author

Baumgartner, Tobias, Carreño, Mar, Rocamora, Rodrigo, Bisulli, Francesca, Boni, Antonella, Brázdil, Milan, Horak, Ondrej, Craiu, Dana, Pereira, Cristina, Guerrini, Renzo, San Antonio‐Arce, Victoria, Schulze‐Bonhage, Andreas, Zuberi, Sameer M., Hallböök, Tove, Kalviainen, Reetta, Lagae, Lieven, Nguyen, Sylvie, Quintas, Sofia, Franco, Ana, Cross, J. Helen, Walker, Matthew, Arzimanoglou, Alexis, Rheims, Sylvain, Granata, Tiziana, Canafoglia, Laura, Johannessen Landmark, Cecilie, Sen, Arjune, Rattihalli, Rohini, Nabbout, Rima, Tartara, Elena, Santos, Manuela, Rangel, Rui, Krsek, Pavel, Marusic, Petr, Specchio, Nicola, Braun, Kees P. J., Smeyers, Patricia, Villanueva, Vicente, Kotulska, Katarzyna, Surges, Rainer, Tinuper, Paolo, Licchetta, Laura, Michelucci, Roberto, Toulouse, Joseph, Panagiotakaki, Eleni, Ostrowsky‐Coste, Karine, Lesca, Gaetan, de Curtis, Marco, Elisak, Martin, Domańska‐Pakiea, Dorota, Sadowski, Krzysztof, Baumgartner T., Carreno M., Rocamora R., Bisulli F., Boni A., Brazdil M., Horak O., Craiu D., Pereira C., Guerrini R., San Antonio-Arce V., Schulze-Bonhage A., Zuberi S.M., Hallbook T., Kalviainen R., Lagae L., Nguyen S., Quintas S., Franco A., Cross J.H., Walker M., Arzimanoglou A., Rheims S., Granata T., Canafoglia L., Johannessen Landmark C., Sen A., Rattihalli R., Nabbout R., Tartara E., Santos M., Rangel R., Krsek P., Marusic P., Specchio N., Braun K.P.J., Smeyers P., Villanueva V., Kotulska K., Surges R., Tinuper P., Licchetta L., Michelucci R., Toulouse J., Panagiotakaki E., Ostrowsky-Coste K., Lesca G., de Curtis M., Elisak M., Domanska-Pakiea D., and Sadowski K.

Subjects
Adult, Male, Consensus, Epilepsies, Myoclonic, tuberous sclerosis complex, Dravet syndrome, autoimmune encephalitis, orphan disease, progressive myoclonic epilepsy, targeted therapies, tuberous sclerosis complex, Cohort Studies, progressive myoclonic epilepsy, Rare Diseases, Tuberous Sclerosis, Surveys and Questionnaires, targeted therapie, Humans, Everolimus, orphan disease, Epilepsy, Infant, Middle Aged, autoimmune encephalitis, targeted therapies, Dravet syndrome, Europe, Full‐length Original Research, Encephalitis, Anticonvulsants, Female, autoimmune encephaliti, Spasms, Infantile
Abstract

Objective Clinical care of rare and complex epilepsies is challenging, because evidence‐based treatment guidelines are scarce, the experience of many physicians is limited, and interdisciplinary treatment of comorbidities is required. The pathomechanisms of rare epilepsies are, however, increasingly understood, which potentially fosters novel targeted therapies. The objectives of our survey were to obtain an overview of the clinical practice in European tertiary epilepsy centers treating patients with 5 arbitrarily selected rare epilepsies and to get an estimate of potentially available patients for future studies. Methods Members of the European Reference Network for rare and complex epilepsies (EpiCARE) were invited to participate in a web‐based survey on clinical practice of patients with Dravet syndrome, tuberous sclerosis complex (TSC), autoimmune encephalitis, and progressive myoclonic epilepsies including Unverricht Lundborg and Unverricht‐like diseases. A consensus‐based questionnaire was generated for each disease. Results Twenty‐six of 30 invited epilepsy centers participated. Cohorts were present in most responding centers for TSC (87%), Dravet syndrome (85%), and autoimmune encephalitis (71%). Patients with TSC and Dravet syndrome represented the largest cohorts in these centers. The antiseizure drug treatments were rather consistent across the centers especially with regard to Dravet syndrome, infantile spasms in TSC, and Unverricht Lundborg / Unverricht‐like disease. Available, widely used targeted therapies included everolimus in TSC and immunosuppressive therapies in autoimmune encephalitis. Screening for comorbidities was routinely done, but specific treatment protocols were lacking in most centers. Significance The survey summarizes the current clinical practice for selected rare epilepsies in tertiary European epilepsy centers and demonstrates consistency as well as heterogeneity in the treatment, underscoring the need for controlled trials and recommendations. The survey also provides estimates for potential participants of clinical trials recruited via EpiCARE, emphasizing the great potential of Reference Networks for future studies to evaluate new targeted therapies and to identify novel biomarkers.

Published
2021

23. A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies

Author

Neurologen, Brain, Baumgartner, Tobias, Carreño, Mar, Rocamora, Rodrigo, Bisulli, Francesca, Boni, Antonella, Brázdil, Milan, Horak, Ondrej, Craiu, Dana, Pereira, Cristina, Guerrini, Renzo, San Antonio-Arce, Victoria, Schulze-Bonhage, Andreas, Zuberi, Sameer M., Hallböök, Tove, Kalviainen, Reetta, Lagae, Lieven, Nguyen, Sylvie, Quintas, Sofia, Franco, Ana, Cross, J. Helen, Walker, Matthew, Arzimanoglou, Alexis, Rheims, Sylvain, Granata, Tiziana, Canafoglia, Laura, Johannessen Landmark, Cecilie, Sen, Arjune, Rattihalli, Rohini, Nabbout, Rima, Tartara, Elena, Santos, Manuela, Rangel, Rui, Krsek, Pavel, Marusic, Petr, Specchio, Nicola, Braun, Kees P.J., Smeyers, Patricia, Villanueva, Vicente, Kotulska, Katarzyna, Surges, Rainer, Tinuper, Paolo, Licchetta, Laura, Michelucci, Roberto, Toulouse, Joseph, Panagiotakaki, Eleni, Ostrowsky-Coste, Karine, Lesca, Gaetan, de Curtis, Marco, Elisak, Martin, Domańska-Pakiea, Dorota, Sadowski, Krzysztof, Neurologen, Brain, Baumgartner, Tobias, Carreño, Mar, Rocamora, Rodrigo, Bisulli, Francesca, Boni, Antonella, Brázdil, Milan, Horak, Ondrej, Craiu, Dana, Pereira, Cristina, Guerrini, Renzo, San Antonio-Arce, Victoria, Schulze-Bonhage, Andreas, Zuberi, Sameer M., Hallböök, Tove, Kalviainen, Reetta, Lagae, Lieven, Nguyen, Sylvie, Quintas, Sofia, Franco, Ana, Cross, J. Helen, Walker, Matthew, Arzimanoglou, Alexis, Rheims, Sylvain, Granata, Tiziana, Canafoglia, Laura, Johannessen Landmark, Cecilie, Sen, Arjune, Rattihalli, Rohini, Nabbout, Rima, Tartara, Elena, Santos, Manuela, Rangel, Rui, Krsek, Pavel, Marusic, Petr, Specchio, Nicola, Braun, Kees P.J., Smeyers, Patricia, Villanueva, Vicente, Kotulska, Katarzyna, Surges, Rainer, Tinuper, Paolo, Licchetta, Laura, Michelucci, Roberto, Toulouse, Joseph, Panagiotakaki, Eleni, Ostrowsky-Coste, Karine, Lesca, Gaetan, de Curtis, Marco, Elisak, Martin, Domańska-Pakiea, Dorota, and Sadowski, Krzysztof

Published
2021

25. Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study

Author

Lamberink, Herm J, primary, Otte, Willem M, additional, Blümcke, Ingmar, additional, Braun, Kees P J, additional, Aichholzer, Martin, additional, Amorim, Isabel, additional, Aparicio, Javier, additional, Aronica, Eleonora, additional, Arzimanoglou, Alexis, additional, Barba, Carmen, additional, Beck, Jürgen, additional, Becker, Albert, additional, Beckervordersandforth, Jan C, additional, Bien, Christian G, additional, Bodi, Istvan, additional, Braun, Kees PJ, additional, Catenoix, Helene, additional, Chassoux, Francine, additional, Chipaux, Mathilde, additional, Cloppenborg, Thomas, additional, Coras, Roland, additional, Cross, J Helen, additional, De Palma, Luca, additional, De Tisi, Jane, additional, Deleo, Francesco, additional, Devaux, Bertrand, additional, Di Gennaro, Giancarlo, additional, Dorfmüller, Georg, additional, Duncan, John S, additional, Elger, Christian, additional, Ernst, Katharina, additional, Esposito, Vincenzo, additional, Feucht, Martha, additional, Gadze, Zeljka Petelin, additional, Garbelli, Rita, additional, Geleijns, Karin, additional, Gil-Nagel, Antonio, additional, Grote, Alexander, additional, Grunwald, Thomas, additional, Guerrini, Renzo, additional, Hamer, Hajo, additional, Honavar, Mrinalini, additional, Jacques, Thomas S, additional, Jakovcevic, Antonia, additional, Jutila, Leena, additional, Kalina, Adam, additional, Kälviäinen, Reetta, additional, Klein, Karl Martin, additional, Koenig, Kristina, additional, Krsek, Pavel, additional, Kudernatsch, Manfred, additional, Kudr, Martin, additional, Lamberink, Herm J, additional, Malmgren, Kristina, additional, Marusic, Petr, additional, Melikyan, Armen, additional, Menzler, Katja, additional, Noachtar, Soheyl, additional, Özkara, Çiğdem, additional, Pieper, Tom, additional, Pimentel, Jose, additional, Raicevic, Savo, additional, Rheims, Sylvain, additional, Ribeiro, Joana, additional, Rosenow, Felix, additional, Rössler, Karl, additional, Rydenhag, Bertil, additional, Sales, Francisco, additional, San Antonio-Arce, Victoria, additional, Schaller, Karl Lothar, additional, Schijns, Olaf, additional, Scholl, Theresa, additional, Schramm, Johannes, additional, Schulze-Bonhage, Andreas, additional, Sciot, Raf, additional, Seeck, Margitta, additional, Shishkina, Lyudmila, additional, Sokic, Dragoslav, additional, Specchio, Nicola, additional, Theys, Tom, additional, Thom, Maria, additional, Delgado, Rafael Toledano, additional, Toulouse, Joseph, additional, Uzan, Mustafa, additional, van Loon, Johannes, additional, Van Paesschen, Wim, additional, von Oertzen, Tim J, additional, Jansen, Floor, additional, Leijten, Frans, additional, van Rijen, Peter, additional, Spliet, Wim GM, additional, Mühlebner, Angelika, additional, Kasper, Burkhard S, additional, Fauser, Susanne, additional, Polster, Tilman, additional, Kalbhenn, Thilo, additional, Delev, Daniel, additional, McEvoy, Andrew, additional, Miserocchi, Anna, additional, Landré, Elisabeth, additional, Turak, Bares, additional, Varlet, Pascale, additional, Ferrand-Sorbets, Sarah, additional, Fohlen, Martine, additional, Bulteau, Christine, additional, Edelvik, Anna, additional, Shah, Mukesch J, additional, Scheiwe, Christian, additional, Delicado, Eva Gutierrez, additional, Tisdall, Martin, additional, Eltze, Christin, additional, Akkol, Serdar, additional, Deniz, Kaancan, additional, Oz, Buge, additional, Holthausen, Hans, additional, Hartlieb, Till, additional, Staudt, Martin, additional, Casciato, Sara, additional, Quarato, Pier P, additional, Giangaspero, Felice, additional, Streichenberger, Nathalie, additional, Guenot, Marc, additional, Isnard, Jean, additional, Valentijn, Antonio, additional, Chang, Amanda, additional, Mullatti, Nandini, additional, Zamecnik, Josef, additional, Zarubova, Jana, additional, Tomasek, Martin, additional, Immonen, Arto, additional, Saarela, Anni, additional, Rauramaa, Tuomas, additional, Lobrinus, Johannes A, additional, Egervari, Kristof, additional, Momjian, Shahan, additional, Harti, Elisabeth, additional, Lohr, Hannah, additional, Kroell, Judith, additional, Vermeulen, Lynn, additional, Cleeren, Evy, additional, Vlasov, Pavel, additional, Kozlova, Antonia, additional, Vorobyev, Alexey, additional, Goeppel, Gudrun, additional, Samueli, Sharon, additional, Czech, Thomas, additional, Hainfellner, Johannes, additional, Puttinger, Gertraud, additional, Schwarz, Gabriele, additional, Stefanits, Harald, additional, Weis, Serge, additional, Spreafico, Roberto, additional, Villani, Flavio, additional, Rossini, Laura, additional, Hermsen, Anke, additional, Knake, Susanne, additional, Nimsky, Christopher, additional, Carl, Barbara, additional, Belohlavkova, Anezka, additional, Benova, Barbora, additional, Bisschop, Jeroen, additional, Colon, Albert, additional, van Kranen-Mastenbroek, Vivianne, additional, Rouhl, Rob PW, additional, Hoogland, Govert, additional, Rumiá, Jordi, additional, Ramírez-Camacho, Alia, additional, Candela-Cantó, Santiago, additional, Ostrowsky-Coste, Karine, additional, Panagiotakaki, Eleni, additional, Montavont, Alexandra, additional, Kosal, Pascale Keo, additional, Gokce-Samar, Zeynep, additional, Milleret, Clara, additional, Buccoliero, Anna M, additional, Giordano, Flavio, additional, Sulentic, Vlatko, additional, Mrak, Goran, additional, Desnica, Andrej, additional, CarfíPavia, Giusy, additional, De Benedictis, Alessandro, additional, Marras, Carlo E, additional, Bascarevic, Vladimir, additional, Vojvodic, Nikola, additional, Ristic, Aleksandar, additional, Rebelo, Olinda, additional, Aledo-Serrano, Angel, additional, Garcia-Morales, Irene, additional, and Anciones, Carla, additional

Published
2020
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26. Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization

Author

Natera‐de Benito, Daniel, primary, Muchart, Jordi, additional, Itzep, Debora, additional, Ortez, Carlos, additional, González‐Quereda, Lidia, additional, Gallano, Pía, additional, Ramirez, Alia, additional, Aparicio, Javier, additional, Domínguez‐Carral, Jana, additional, Carrera‐García, Laura, additional, Expósito‐Escudero, Jessica, additional, Pardo Cardozo, Nathalia, additional, Cuadras, Daniel, additional, Codina, Anna, additional, Jou, Cristina, additional, Jimenez‐Mallebrera, Cecilia, additional, Palau, Francesc, additional, Colomer, Jaume, additional, Arzimanoglou, Alexis, additional, Nascimento, Andrés, additional, and San Antonio‐Arce, Victoria, additional

Published
2020
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28. SGM: a novel time-frequency algorithm based on unsupervised learning improves high-frequency oscillation detection in epilepsy

Author

Universitat Politècnica de Catalunya. Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, Universitat Politècnica de Catalunya. BIOART - BIOsignal Analysis for Rehabilitation and Therapy, Migliorelli Falcone, Carolina Mercedes, Bachiller Matarranz, Alejandro, Alonso López, Joan Francesc, Romero Lafuente, Sergio, Aparicio, Javier, Jacobs-Le Van, Julia, Mañanas Villanueva, Miguel Ángel, San Antonio-Arce, Victoria, Universitat Politècnica de Catalunya. Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, Universitat Politècnica de Catalunya. BIOART - BIOsignal Analysis for Rehabilitation and Therapy, Migliorelli Falcone, Carolina Mercedes, Bachiller Matarranz, Alejandro, Alonso López, Joan Francesc, Romero Lafuente, Sergio, Aparicio, Javier, Jacobs-Le Van, Julia, Mañanas Villanueva, Miguel Ángel, and San Antonio-Arce, Victoria

Abstract

Objective. We propose a novel automated method called the S-Transform Gaussian Mixture detection algorithm (SGM) to detect high-frequency oscillations (HFO) combining the strengths of different families of previously published detectors. Approach. This algorithm does not depend on parameter tuning on a subject (or database) basis, uses time-frequency characteristics, and relies on non-supervised classification to determine if the events standing out from the baseline activity are HFO or not. SGM consists of three steps: the first stage computes the signal baseline using the entropy of the autocorrelation; the second uses the S-Transform to obtain several time-frequency features (area, entropy, and time and frequency widths); and in the third stage Gaussian mixture models cluster time-frequency features to decide if events correspond to HFO-like activity. To validate the SGM algorithm we tested its performance in simulated and real environments. Main results. We assessed the algorithm on a publicly available simulated stereoelectroencephalographic (SEEG) database with varying signal-to-noise ratios (SNR), obtaining very good results for medium and high SNR signals. We further tested the SGM algorithm on real signals from patients with focal epilepsy, in which HFO detection was performed visually by experts, yielding a high agreement between experts and SGM. Significance. The SGM algorithm displayed proper performance in simulated and real environments and therefore can be used for non-supervised detection of HFO. This non-supervised algorithm does not require previous labelling by experts or parameter adjustment depending on the subject or database considered. SGM is not a computationally intensive algorithm, making it suitable to detect and characterize HFO in long-term SEEG recordings., Peer Reviewed, Postprint (published version)

Published
2020

32. Long-term seizure outcome in pediatric patients with focal cortical dysplasia undergoing tailored and standard surgical resections

Author

Martinez-Lizana, Eva, primary, Fauser, Susanne, additional, Brandt, Armin, additional, Schuler, Elisabeth, additional, Wiegand, Gert, additional, Doostkam, Soroush, additional, San Antonio-Arce, Victoria, additional, Jacobs, Julia, additional, Bast, Thomas, additional, Shah, Mukesch, additional, Zentner, Josef, additional, and Schulze-Bonhage, Andreas, additional

Published
2018
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35. A homozygousloss-of-functionmutation inPDE2Aassociated to early-onset hereditary chorea

Author

Salpietro, Vincenzo, primary, Perez-Dueñas, Belen, additional, Nakashima, Kosuke, additional, San Antonio-Arce, Victoria, additional, Manole, Andreea, additional, Efthymiou, Stephanie, additional, Vandrovcova, Jana, additional, Bettencourt, Conceicao, additional, Mencacci, Niccolò E., additional, Klein, Christine, additional, Kelly, Michy P., additional, Davies, Ceri H., additional, Kimura, Haruhide, additional, Macaya, Alfons, additional, and Houlden, Henry, additional

Published
2018
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36. MECP2 Duplications in Symptomatic Females

Author

San Antonio-Arce, Victoria, Fenollar-Cortés, María, Oancea Ionescu, Raluca, DeSantos-Moreno, Teresa, Gallego-Merlo, Jesús, Illana Cámara, Francisco José, and Cotarelo Pérez, María Carmen

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, female, MECP2 duplication syndrome, phenotype, Xq28 microduplication including MECP2, Original Article, nervous system diseases
Abstract

Xq28 microduplications including the MECP2 gene constitute a 100% penetrant X-linked syndrome in males caused by overexpression of normal MeCP2 protein. A small number of cases of affected females have been reported. This can be due to the location of the duplicated material into an autosome, but it can also be due to the location of the duplicated material into one of the X chromosomes and random or unfavorable skewed X chromosome inactivation, which is much more likely to occur but may be underdiagnosed because of the resulting broad phenotypic spectrum. In order to contribute to the phenotypic delineation of Xq28 microduplications including MECP2 in symptomatic females, the authors present clinical and molecular data on 3 patients illustrating the broad phenotypic spectrum. Our finding underlines the importance of quantitative analysis of MECP2 in females with intellectual disability and raises the question of the indication in females with borderline intellectual performances or learning difficulties.

Published
2016

37. Rendimiento de la técnica de 'array' de hibridación genómica comparada aplicada al estudio de las discapacidades intelectuales y del desarrollo

Author

San Antonio Arce, Victoria, Moro Serrano, Manuel, and Aleo Luján, Esther

Subjects
Pediatría
Abstract

Las discapacidades intelectuales y del desarrollo tienen una prevalencia de entre 1 y 3% y suponen un impacto significativo en el funcionamiento del individuo que se prolonga a lo largo de toda su vida, así como elevados costes para los sistemas de salud y para la sociedad en su conjunto. En más del 50% de los casos la causa de la discapacidad intelectual y del desarrollo es desconocida, lo que impide indicar un tratamiento específico en caso de que lo hubiese, emitir un pronóstico, evitar exploraciones inútiles y llevar a cabo un consejo genético familiar y reproductivo. El desarrollo y la aplicación a la práctica clínica de técnicas moleculares de cribado genómico, en concreto del array de hibridación genómica comparada (array-CGH), que permite detectar pequeñas pérdidas y ganancias de material genético con una resolución de hasta miles de veces la correspondiente a un cariotipo convencional, han duplicado la tasa de diagnósticos de reordenamientos cromosómicos submicroscópicos como causa de discapacidad intelectual o del desarrollo, al detectarlos en alrededor del 15% de los casos. Justificación del trabajo Aunque hoy día se considera el array-CGH una prueba de primer nivel en el diagnóstico etiológico de las discapacidades intelectuales y las discapacidades del desarrollo sin causa aparente y sin una sospecha sindrómica clara, y a pesar de que su precio ha ido progresivamente disminuyendo, sigue siendo una técnica cara y de realización e interpretación costosa en términos de tiempo y personal. Por ese motivo, es importante establecer en nuestra población pediátrica el rendimiento de esta técnica en el estudio de las discapacidades intelectuales y del desarrollo. Demostrar en nuestra cohorte de pacientes un rendimiento al menos similar al reportado en otras poblaciones puede servir de argumento para salvar las limitaciones de acceso a este estudio que en la actualidad existen en nuestro país...

Published
2016

38. Rendimiento de la técnica de 'array' de hibridación genómica comparada aplicada al estudio de las discapacidades intelectuales y del desarrollo

Author

Moro Serrano, Manuel, Aleo Luján, Esther, San Antonio Arce, Victoria, Moro Serrano, Manuel, Aleo Luján, Esther, and San Antonio Arce, Victoria

Abstract

Las discapacidades intelectuales y del desarrollo tienen una prevalencia de entre 1 y 3% y suponen un impacto significativo en el funcionamiento del individuo que se prolonga a lo largo de toda su vida, así como elevados costes para los sistemas de salud y para la sociedad en su conjunto. En más del 50% de los casos la causa de la discapacidad intelectual y del desarrollo es desconocida, lo que impide indicar un tratamiento específico en caso de que lo hubiese, emitir un pronóstico, evitar exploraciones inútiles y llevar a cabo un consejo genético familiar y reproductivo. El desarrollo y la aplicación a la práctica clínica de técnicas moleculares de cribado genómico, en concreto del array de hibridación genómica comparada (array-CGH), que permite detectar pequeñas pérdidas y ganancias de material genético con una resolución de hasta miles de veces la correspondiente a un cariotipo convencional, han duplicado la tasa de diagnósticos de reordenamientos cromosómicos submicroscópicos como causa de discapacidad intelectual o del desarrollo, al detectarlos en alrededor del 15% de los casos. Justificación del trabajo Aunque hoy día se considera el array-CGH una prueba de primer nivel en el diagnóstico etiológico de las discapacidades intelectuales y las discapacidades del desarrollo sin causa aparente y sin una sospecha sindrómica clara, y a pesar de que su precio ha ido progresivamente disminuyendo, sigue siendo una técnica cara y de realización e interpretación costosa en términos de tiempo y personal. Por ese motivo, es importante establecer en nuestra población pediátrica el rendimiento de esta técnica en el estudio de las discapacidades intelectuales y del desarrollo. Demostrar en nuestra cohorte de pacientes un rendimiento al menos similar al reportado en otras poblaciones puede servir de argumento para salvar las limitaciones de acceso a este estudio que en la actualidad existen en nuestro país..., The incidence of intellectual disability and developmental impairment (IDDI) is between 1 and 3 %. They significantly impact functional ability over an individual's entire lifetime and are also extremely costly for healthcare systems and for society as a whole. The cause of IDDI is unknown in more than 50 % of cases, making administering a specific treatment, where one exists, advancing a prognosis, averting pointless testing, and genetic counselling for family reproductive planning unfeasible. The development of molecular genetic screening methods and their application to clinical practice has doubled the diagnosis rate for submicroscopic chromosomal rearrangements – found to be present in around 15 % of cases – as the cause of IDDI. More specifically, the use of array comparative genomic hybridization (array CGH) has enabled the detection of small losses and gains in genetic material at resolutions that can be up to thousands of times greater than those of conventional karyotyping. Rationale for this study While array CGH is today regarded as a first-tier test for diagnosing the aetiology of IDDI having no apparent cause or any clearly suspect syndrome, and even though its cost has been falling gradually, it continues to be an expensive technique, costly to carry out and interpret in terms of both the time and manpower required. For this reason it is important to ascertain the diagnostic yield of this method in studying IDDI in our paediatric population. Demonstrating levels of diagnostic yield in our patient cohort that are at least similar to those reported for other populations could provide an argument for obviating the restrictions on obtaining access to this method currently encountered in our country. Another interesting aspect is to assess whether our population contains subgroups that have specific clinical factors associated with positive study results...

Published
2016

39. Brain rhythms alterations and their effect in functional networks: A simultaneous EEG/fMRI study in Fixation-off epilepsy

Author

Solana Sánchez, Ana Beatriz, Hernández Tamames, J.A., Molina, Elena, Martínez, Kenia, Alcalá, Juan José, Toledano, Rafael, San Antonio-Arce, Victoria, Garcia Morales, Irene, Gil Nagel, Antonio, Maestu Unturbe, Ceferino, Alvarez Linera, Juan, Alfayate, E., and Pozo Guerrero, Francisco del

Subjects
Telecomunicaciones, Medicina, Física
Abstract

Fixation-off sensitivity (FOS) denotes the forms of EEG abnormalities, which are elicited by elimination of central vision or fixation. The phenomenon seems to depend on variables that modulate the alpha rhythm, however, the cerebral mechanisms underlying FOS remain unclear [1]. The scarce previous fMRI findings related to FOS have shown activation in extrastriate cortex [2] and also in frontal areas [3][4]. On the other hand, simultaneous EEG-fMRI technique has been used to assess the relationship between spontaneous power fluctuations of electrical rhythms and associated fMRI signal modulations. These studies have identified that lateral frontoparietal networks show a negative correlation with alpha band in healthy subjects. This neuroanatomical pattern is related to attentional processes and cognitive resources. Moreover, a sub-beta band (17-23 Hz) has been identified with posterior cingulate, temporoparietal junction and dorso-medial prefrontal cortex activations, which correspond to the DMN [5][6].

Published
2012

40. Altered brain rhythms and functional network disruptions involved in patients with generalized fixation-off epilepsy

Author

Solana Sánchez, Ana Beatriz, Hernández Tamames, J.A., Molina, E., Martínez, K., Pineda Pardo, José Ángel, Bruña Fernandez, Ricardo, Toledano, Rafael, San Antonio-Arce, Victoria, Garcia Morales, Irene, Gil Nagel, Antonio, Alfayate, E., Álvarez Linera, Juan, and Pozo Guerrero, Francisco del

Subjects
Medicina
Abstract

Fixation-off sensitivity (FOS) denotes the forms of epilepsy elicited by elimination of fixation. FOS-IGE patients are rare cases [1]. In a previous work [2] we showed that two FOS-IGE patients had different altered EEG rhythms when closing eyes; only beta band was altered in patient 1 while theta, alpha and beta were altered in patient 2. In the present work, we explain the relationship between the altered brain rhythms in these patients and the disruption in functional brain networks.

Published
2012

44. Codificación en neurología pediátrica basada en la Clasificación Internacional de Enfermedades, 9.ª revisión (CIE-9), 5.ª edición (2006)

Author

García Pérez, Asunción, primary, Martínez Granero, Miguel Ángel, additional, Verdú Pérez, Alfonso, additional, Castro de Castro, Pedro, additional, Garzo Fernández, Caridad, additional, Vázquez López, María, additional, Martínez Bermejo, Antonio, additional, Simón de las Heras, Rogelio, additional, Martínez Menéndez, Beatriz, additional, San Antonio Arce, Victoria, additional, de Santos Moreno, Mª Teresa, additional, Carrasco Marina, Mª Llanos, additional, and Cazorla Calleja, María Rosario, additional

Published
2009
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49. Ictal tachycardia in patients with hypothalamic hamartoma.

Author

Antonio-Arce, Victoria San, Schulze-Bonhage, Andreas, and San Antonio-Arce, Victoria

Subjects
TACHYCARDIA, HAMARTOMA, HYPOTHALAMUS tumors, HEART beat, BIOMARKERS, ELECTROENCEPHALOGRAPHY, RETROSPECTIVE studies, SEIZURES (Medicine), SPASMS, HYPOTHALAMUS diseases, DISEASE complications
Abstract

The article offers information on the Ictal tachycardia in patients with hypothalamic hamartoma. it informs that Epileptic seizures can lead to various autonomic function such as heart rate (HR) changes. Topics discussed include development of HR-based algorithms for seizure detection, need of understanding magnitude of HR changes, and rates of pharmacoresistance can improve the control of their seizure.

Published
2015
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50. Prognostic value of the 5-SENSE Score to predict focality of the seizure-onset zone as assessed by stereoelectroencephalography: a prospective international multicentre validation study.

Author

Astner-Rohracher A, Ho A, Archer J, Bartolomei F, Brazdil M, Cacic Hribljan M, Castellano J, Dolezalova I, Fabricius ME, Garcés-Sanchez M, Hammam K, Ikeda A, Ikeda K, Kahane P, Kalamangalam G, Kalss G, Khweileh M, Kobayashi K, Kwan P, Laing JA, Leitinger M, Lhatoo S, Makhalova J, McGonigal A, Mindruta I, Mizera MM, Neal A, Oane I, Parikh P, Perucca P, Pizzo F, Rocamora R, Ryvlin P, San Antonio Arce V, Schuele S, Schulze-Bonhage A, Suller Marti A, Urban A, Villanueva V, Vilella Bertran L, Whatley B, Beniczky S, Trinka E, Zimmermann G, and Frauscher B

Abstract

Introduction: Epilepsy surgery is the only curative treatment for patients with drug-resistant focal epilepsy. Stereoelectroencephalography (SEEG) is the gold standard to delineate the seizure-onset zone (SOZ). However, up to 40% of patients are subsequently not operated as no focal non-eloquent SOZ can be identified. The 5-SENSE Score is a 5-point score to predict whether a focal SOZ is likely to be identified by SEEG. This study aims to validate the 5-SENSE Score, improve score performance by incorporating auxiliary diagnostic methods and evaluate its concordance with expert decisions., Methods and Analysis: Non-interventional, observational, multicentre, prospective study including 200 patients with drug-resistant epilepsy aged ≥15 years undergoing SEEG for identification of a focal SOZ and 200 controls at 22 epilepsy surgery centres worldwide. The primary objective is to assess the diagnostic accuracy and generalisability of the 5-SENSE in predicting focality in SEEG in a prospective cohort. Secondary objectives are to optimise score performance by incorporating auxiliary diagnostic methods and to analyse concordance of the 5-SENSE Score with the expert decisions made in the multidisciplinary team discussion., Ethics and Dissemination: Prospective multicentre validation of the 5-SENSE score may lead to its implementation into clinical practice to assist clinicians in the difficult decision of whether to proceed with implantation. This study will be conducted in accordance with the Tri-Council Policy Statement: Ethical Conduct for Research Involving Humans (2014). We plan to publish the study results in a peer-reviewed full-length original article and present its findings at scientific conferences., Trial Registration Number: NCT06138808., Competing Interests: AA-R has no conflict of interest related to this work. Outside of the submitted work, she acted as a paid consultant for Epilog and received travel support and speaker's honoraria from Eisai. PP has received speaker honoraria or consultancy fees to his institution from Chiesi, Eisai, LivaNova, Novartis, Sun Pharma, Supernus and UCB Pharma, outside the submitted work. He is an Associate Editor for Epilepsia Open. Furthermore, he is supported by an Emerging Leadership Investigator Grant from the Australian National Health and Medical Research Council (APP2017651), The University of Melbourne, Monash University, the Austin Medical Research Foundation and the Norman Beischer Medical Research Foundation. VV has participated in advisory boards and symposium organised by Angellini, Bial, Biocodex, Eisai, Jazz Pharmaceuticals, Novartis, Paladin, Takeda, UCB, Xenon. AU has served as a consultant for Neuropace. JC serves on the scientific advisory board at NeuroOne Medical Technologies. SS received speaker honoraria and consultancy fees from Greenwich, Neurelis, SK Life Science, Bioserenity, Monteris and UCB outside the submitted work. ASM has received speaker honoraria and consultancy fees from Paladin and Jazz Pharmaceuticals, outside the submitted work. GZ gratefully acknowledges the support of the WISS 2025 project ‘IDA-Lab Salzburg’ (20204-WISS/225/197-2019 and 20102-F1901166-KZP). ET reports personal fees from EVER Pharma, Marinus, Argenix his institution has received grants from Biogen, UCB Pharma, Eisai, Red Bull, Merck, Bayer, the European Union, FWF Österreichischer Fond zur Wissenschaftsforderung, Bundesministerium für Wissenschaft und Forschung and Jubilaumsfond der Österreichischen Nationalbank outside the submitted work. BF has no conflict of interest in relation to this work. Outside of this work, she received honoraria for speaking engagements/advisory board meetings from UCB, UNEEG, Paladin labs, Eisai and Natus. Furthermore, she received a project grant from the Canadian Institutes of Health Research (PJT-175056) as well as Start-up Funding from Duke University. All other coauthors report no conflict of interest related to this work., (Copyright © Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Published
2024
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