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395 results on '"Serrano, Angel"'

1. Genetic Epilepsy

Author

Morcos, Ricardo, Aledo-Serrano, Angel, Shaikh, Mohd Farooq, Section editor, and Essa, Musthafa M., editor

Published
2024
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2. A facile approach for phase change material encapsulation into polymeric flexible fibers using microfluidic principles

Author

Duran, Mikel, Nikulin, Artem, Dauvergne, Jean-Luc, Serrano, Angel, Grosu, Yaroslav, Labidi, Jalel, and del Barrio, Elena Palomo

Subjects
Physics - Fluid Dynamics, Condensed Matter - Materials Science, Condensed Matter - Soft Condensed Matter
Abstract

It is widely agreed that phase change materials (PCMs) are of high interest for sustainable energy future. Many of the applications require anti-leakage properties of PCM, that can be accomplished through PCM encapsulation. In this study, scalable and considerably simplified approach based on the microfluidics principles was successfully designed for polyvinylidene fluoride (PVDF) hollow- and for leakage-free paraffin-core/PVDF-sheath fibers production. The required device can be as simple as syringe+tube+glass capillary. The fibers were created by PVDF/N,NDimethylformamide (DMF) solution and PVDF/DMF/paraffin emulsion injection in water followed by solvent extraction process. The proposed approach results in a hollow PVDF or PVDF/paraffin composite fibers with the PCM content between 32-47.5% according to DSC and TGA measurements. SEM study of the fibers morphology has shown that PCM is in the form of slugs along the fibers. Such PCM distribution is maintained until the first melting cycle. Later, molten PCM spreads within the fiber under capillary forces that was captured by infrared camera. Elastic modules and stress vs. strain were measured to characterise mechanical properties of designed fibers. Finally, the composite fibers have shown outstanding retention capacity with only 3.5% of PCM mass loose after 1000 melting/crystallisation cycles., Comment: 16 pages, 10 figures

Published
2022

10. Cement Based Materials with PCM and Reduced Graphene Oxide for Thermal Insulation for Buildings

Author

Erkizia, Edurne, Strunz, Christina, Dauvergne, Jean-Luc, Goracci, Guido, Peralta, Ignacio, Serrano, Ángel, Ortega, Amaya, Alonso, Beatriz, Zanoni, Francesca, Düngfelder, Michael, Dolado, Jorge S., Gaitero, Juan Jose, Mankel, Christoph, Koenders, Eduardus, Jędrzejewska, Agnieszka, editor, Kanavaris, Fragkoulis, editor, Azenha, Miguel, editor, Benboudjema, Farid, editor, and Schlicke, Dirk, editor

Published
2023
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14. D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery

Author

Aledo-Serrano, Ángel, Valls-Carbó, Adrián, Fenger, Christina D., Groeppel, Gudrun, Hartlieb, Till, Pascual, Irene, Herraez, Erika, Cabal, Borja, García-Morales, Irene, Toledano, Rafael, Budke, Marcelo, Beltran-Corbellini, Álvaro, Baldassari, Sara, Coras, Roland, Kobow, Katja, Herrera, David M., del Barrio, Antonio, Dahl, Hans Atli, del Pino, Isabel, Baulac, Stéphanie, Blumcke, Ingmar, Møller, Rikke S., and Gil-Nagel, Antonio

Published
2023
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21. Narrative Cartographies. Developing a Socio-spatial Method of Graphic Analysis to Investigate Emergent Occupation Practices in Depopulated Rural Settlements. A Study-Case from the Spanish Central Pyrenees

Author

Galán-Fernández, Ignacio, Comeras-Serrano, Ángel, Schoonjans, Yves, Gantois, Gisèle, Tosi, Francesca, Editor-in-Chief, Germak, Claudio, Series Editor, Zurlo, Francesco, Series Editor, Jinyi, Zhi, Series Editor, Pozzatti Amadori, Marilaine, Series Editor, Caon, Maurizio, Series Editor, Ródenas-López, Manuel A., editor, Calvo-López, José, editor, and Salcedo-Galera, Macarena, editor

Published
2022
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25. Outcomes from a Spanish Expanded Access Program on cannabidiol treatment in pediatric and adult patients with epilepsy

Author

Villanueva, Vicente, García-Ron, Adrián, Smeyers, Patricia, Arias, Eva, Soto, Victor, García-Peñas, Juan José, González-Alguacil, Elena, Sayas, Débora, Serrano-Castro, Pedro, Garces, Mercedes, Hampel, Kevin, Tomás, Miguel, Lara, Julian, de Toledo, María, Barceló, Ines, Aledo-Serrano, Angel, Gil-Nagel, Antonio, Iacampo, Lucas, Falip, Mercè, Saiz-Diaz, Rosa Ana, Gómez-Ibañez, Asier, Sopelana, David, Sanchez-Larsen, Alvaro, and López-González, Francisco Javier

Published
2022
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30. Sleep disturbances in SCN8A‐related disorders.

Author

Furia, Francesca, Johannesen, Katrine M., Bonardi, Claudia M., Previtali, Roberto, Aledo‐Serrano, Angel, Mastrangelo, Massimo, Favaro, Jacopo, Masnada, Silvia, di Micco, Valentina, Proietti, Jacopo, Veggiotti, Pierangelo, Rubboli, Guido, Cantalupo, Gaetano, Olofsson, Kern, Møller, Rikke S., and Gardella, Elena

Subjects
SLEEP duration, SLEEP latency, SODIUM channels, SEIZURES (Medicine), RAPID eye movement sleep, SLEEP, SLEEP interruptions, SLOW wave sleep, NON-REM sleep
Abstract

Copyright of Epilepsia Open is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024
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32. GECOP-MMC: phase IV randomized clinical trial to evaluate the efficacy of hyperthermic intraperitoneal chemotherapy (HIPEC) with mytomicin-C after complete surgical cytoreduction in patients with colon cancer peritoneal metastases

Author

Pereira, Fernando, Serrano, Angel, Manzanedo, Israel, Pérez-Viejo, Estibalitz, González-Moreno, Santiago, González-Bayón, Luis, Arjona-Sánchez, Alvaro, Torres, Juan, Ramos, Isabel, Barrios, Maria E., Cascales, Pedro, Morales, Rafael, Boldó, Enrique, García-Fadrique, Alfonso, Arteaga, Xabier, Gutierrez-Calvo, Alberto, Sánchez-García, Susana, Asensio, Enrique, Ramírez, Cesar P., Artiles, Manuel, Vaqué, Javier, Parra, Pedro A., Villarejo, Pedro, Muñoz-Casares, Cristóbal, Turienzo, Estrella, Calero, Alicia, Torrejimeno, Isabel Jaén, Prieto, Isabel, Galindo, Julio, Borrego, Vicente, Marcello, Manuel E., Rihuete, Cristina, Carrasco, Joaquin, and Gomez-Quiles, Luis

Published
2022
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33. DNA methylation-based classification of malformations of cortical development in the human brain

Author

Jabari, Samir, Kobow, Katja, Pieper, Tom, Hartlieb, Till, Kudernatsch, Manfred, Polster, Tilman, Bien, Christian G., Kalbhenn, Thilo, Simon, Matthias, Hamer, Hajo, Rössler, Karl, Feucht, Martha, Mühlebner, Angelika, Najm, Imad, Peixoto-Santos, José Eduardo, Gil-Nagel, Antonio, Delgado, Rafael Toledano, Aledo-Serrano, Angel, Hou, Yanghao, Coras, Roland, von Deimling, Andreas, and Blümcke, Ingmar

Published
2022
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34. COVID-19 prevalence and mortality in people with epilepsy: A nation-wide multicenter study

Author

Sanchez-Larsen, Alvaro, Conde-Blanco, Estefanía, Viloria-Alebesque, Alejandro, Sánchez-Vizcaíno Buendía, Cristina, Espinosa Oltra, Tatiana, Alvarez-Noval, Amanda, Aledo-Serrano, Angel, Martin-Garcia, Raquel, Ramos-Araque, María E., Campos, Dulce, Valle-Peñacoba, Gonzalo, Sierra-Gómez, Alicia, De Ceballos-Cerrajería, Pablo, Agundez-Sarasola, Marta, Khawaja, Mariam, Hampel, Kevin G., Serra-Martínez, Maria, Arbós-Barber, Clara, Gómez-Ibáñez, Asier, Villino-Boquete, Rafael, Cabezudo-García, Pablo, Rodríguez-Lavado, Ignacio, Principe, Alessandro, and Sopelana-Garay, David

Published
2021
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35. Neurological presentations of COVID-19: Findings from the Spanish Society of Neurology neuroCOVID-19 registry

Author

Fernández, Alejandra Collía, Horga, Alejandro, Prieto, Ana Barragán, del Villar Igea, Ana, Núñez, Ana Urbanos, Serrano, Ángel Aledo, García, Araceli, Menéndez, Beatriz Martínez, Recasens, Bernat Bertran, Serrano, Blanca Serrano, de la Esperanza, Blanca Talavera, de la Hoz, Carlos Pablo de Fuenmayor Fernández, Juste, Carlos Tejero, Martín, Carmen Valderrama, García, Cristina Fernández, Ochoa, Marta, Íñiguez, Cristina, García, Daniel Macías, Pérez Martínez, David A., Santacruz, Débora Mª. Cerdán, Robert, Misericòrdia Floriach, Gomez, Elisabet Franquet, Puiggròs, Elsa, Álvarez, Eric Freire, Llamas, Esteban Peña, Villareal, Estibaliz, Díaz, Eva Fernández, Burguillos, Fernando Morejón, Beitia, Garazi Agirre, Gutiérrez-Gutiérrez, Gerardo, Monteiro, Guilherme Carvalho, Ygual, Guillermo Cervera, Hernández, Guillermo, Rubio, Guillermo, Alonso, Hortenia, Froiz, Iago Payo, García, Iago Rego, Peñas, Inmaculada Redondo, Pérez Sánchez, Javier R., García, Javier Tejada, Álvarez, Javier Villacieros, Domínguez, Jéssica Fernández, Etessam, Jesús Porta, Equiza, Jon, Pascual, Jorge Millán, Usieto, José Antonio Oliván, Reyes, José Antonio, Gómez, José Balseiro, Bueno, José Carlos Roche, Velasquez, Jose Luis Camacho, López, José María Barrios, Raquel Lamas, Leire Ainz, Lezama, Lidia Binela Lara, Caballero, Lorena, Davila, Lucía Galan, González, Nuria, de Antonio, Luis Alberto Rodríguez, Torres, Mª. Araceli García, Zabaleta, Maite Martinez, Rodríguez, Manuel Medina, Moragues, María Dolores, García, María Fuensanta Valero, Hernández, María, Abildúa, María José Abenza, Rabasa, María, Santos, María Rico, Usero, María, Zurdo, Martín, Más, Miguel, Maneiro, Miren, Platas, Montserrat González, Muriana, Nafría, Noelia González, Esteve, Oriol Barrachina, del Saz Saucedo, Pablo, Rocío, Vilar Ventura, Rosa M., Atienza, Saida, Navas, Sandra Rodríguez, Fernández, Santiago Fernández, Borja, Sergio, Navarro, Silvia Gil, García, Solange Kapetanovic, García, Susana, Salas, Teresa Mateos, Palasí, Toni, Cantero, Victoriano Romero, García-Azorín, David, Aguirre, María Elena Erro, Moncó, Juan Carlos García, Guijarro-Castro, Cristina, Delgado, Fernando Romero, Andrés, José Miguel Láinez, and Ezpeleta, David

Published
2021
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39. 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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41. Role of HMGB1 in posttraumatic epilepsy and cognitive decline among traumatic brain injury patients: A prospective longitudinal study in Kuala Lumpur

Author

Ngadimon, Irma Wati, primary, Mohan, Devi, additional, Shaikh, Mohd. Farooq, additional, Khoo, Ching Soong, additional, Tan, Hui Jan, additional, Lee, Yu Mey, additional, Chamhuri, Nor Syazwani, additional, Fadzil, Farizal, additional, Zolkafli, Nursyazwana, additional, Arulsamy, Alina, additional, Thanabalan, Jegan, additional, Aledo-Serrano, Angel, additional, and Cheong, Wing Loong, additional

Published
2024
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43. Assessment of Anti-human Trafficking Program Awareness in Barangay Holy Spirit Quezon City: Vol.4, No.1

Author

Balili, Janine Beverly, Escabas, Apple Claire, Serrano, Angel Kay, Nunez, Jonnie Mae, Balili, Janine Beverly, Escabas, Apple Claire, Serrano, Angel Kay, and Nunez, Jonnie Mae

Abstract

The research study aims to assess the anti-human trafficking awareness program inBarangay's holy spirit, Quezon. The explicit intent of the present study was to scientificallyestablish the effectiveness of existing anti-human trafficking awareness programs, which canbe defined as plans of action and or policies that are implemented to achieve a specific goal.Therefore, the objective of this study is to help readers and future researchers recognize theanti-human trafficking awareness program helps to reduce the number of victims exposed tothe terrors human trafficking can bring. The results of the study showed that the Anti-human trafficking awareness program waseffective in increasing knowledge and awareness of human trafficking among the participants.The majority of participants reported that they learned new awareness program informationabout human trafficking and felt more confident in identifying and reporting instances oftrafficking. The study found that identified several challenges and barriers to awareness of anti-humantrafficking, including a lack of resources and funding for anti-trafficking efforts. Overall, thefindings of this study highlight the importance of community-based approaches to Anti-humantrafficking by raising awareness and engaging community members in anti-trafficking efforts,creating a more informed and empowered community that is better equipped to prevent andcombat anti-human trafficking. Based on the findings of this study, recommendations forfuture anti-trafficking programs in Barangay Holy Spirit include increasing communityparticipation and collaboration. In conclusion, the assessment of the Anti-human traffickingawareness program in Barangay Holy Spirit, Quezon City, provides important insights into theeffectiveness of community-based approaches to prevent human trafficking. By continuing toengage and empower community members, it is possible to create a safer and more justsociety for all.

Published
2024

44. Developmental epileptic encephalopathy in DLG4-related synaptopathy

Author

Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo-Serrano, Angel, Ananth, Amitha L., Brea-Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández-Jaén, Alberto, Fernández-Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil-Nagel, Antonio, Gómez-Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah-Politi, Anya, Rheims, Sylvain, Rodríguez-Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, van Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, Rubboli, Guido, Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo-Serrano, Angel, Ananth, Amitha L., Brea-Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández-Jaén, Alberto, Fernández-Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil-Nagel, Antonio, Gómez-Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah-Politi, Anya, Rheims, Sylvain, Rodríguez-Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, van Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, and Rubboli, Guido

Abstract

Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy. Methods: We included 35 individuals with a DLG4 variant and epilepsy as part of a multicenter study. The DLG4 variants were detected by the referring laboratories. The degree of ID, hypotonia, developmental delay, and motor disturbances were evaluated by the referring clinician. Data on awake and sleep electroencephalography (EEG) and/or video-polygraphy and brain magnetic resonance imaging were collected. Antiseizure medication response was retrospectively assessed by the referring clinician. Results: A large variety of seizure types was reported, although focal seizures were the most common. Encephalopathy related to status epilepticus during slow-wave sleep (ESES)/developmental epileptic encephalopathy with spike–wave activation during sleep (DEE-SWAS) was diagnosed in >25% of the individuals. All but one individual presented with neurodevelopmental delay. Regression in verbal and/or motor domains was observed in all individuals who suffered from ESES/DEE-SWAS, as well as some who did not. We could not identify a clear genotype–phenotype relationship even between individuals with the same DLG4 variants. Significance: Our study shows that a subgroup of individuals with DLG4-related synaptopathy have DEE, and approximately one fourth of them have ESES/DEE-SWAS. Our study confirms DEE as part of the DLG4-related phenotypic spectrum. Occurrence of ESES/DEE-SWAS in DLG4-related synaptopathy requi

Published
2024

48. Incidence and predictors of posttraumatic epilepsy and cognitive impairment in patients with traumatic brain injury: A retrospective cohort study in Malaysia.

Author

Ngadimon, Irma Wati, Mohan, Devi, Shaikh, Mohd. Farooq, Khoo, Ching Soong, Tan, Hui Jan, Chamhuri, Nor Syazwani, Cheong, Wing Loong, Aledo‐Serrano, Angel, Yong, Li Ling, Lee, Yu Mey, Fadzil, Farizal, and Thanabalan, Jegan

Subjects
BRAIN injuries, COGNITION disorders, COHORT analysis, COGNITIVE testing, EPILEPSY, CLINICAL psychologists, PARAPSYCHOLOGY
Abstract

Objective: Posttraumatic epilepsy (PTE) significantly impacts morbidity and mortality, yet local PTE data remain scarce. In addition, there is a lack of evidence on cognitive comorbidity in individuals with PTE in the literature. We sought to identify potential PTE predictors and evaluate cognitive comorbidity in patients with PTE. Methods: A 2‐year retrospective cohort study was employed, in which adults with a history of admission for traumatic brain injury (TBI) in 2019 and 2020 were contacted. Three hundred one individuals agreed to participate, with a median follow‐up time of 30.75 months. The development of epilepsy was ascertained using a validated tool and confirmed by our neurologists during visits. Clinical psychologists assessed the patients' cognitive performance. Results: The 2‐year cumulative incidence of PTE was 9.3% (95% confidence interval [CI] 5.9–12.7). The significant predictors of PTE were identified as a previous history of brain injury [hazard ratio [HR] 4.025, p =.021], and intraparenchymal hemorrhage (HR: 2.291, p =.036), after adjusting for other confounders. TBI patients with PTE performed significantly worse on the total ACE‐III cognitive test (73.5 vs 87.0, p =.018), CTMT (27.5 vs 33.0, p =.044), and PSI (74.0 vs 86.0, p =.006) than TBI patients without PTE. A significantly higher percentage of individuals in the PTE group had cognitive impairment, compared to the non‐PTE group based on ACE‐III (53.6% vs 46.4%, p =.001) and PSI (70% vs 31.7%, p =.005) scores at 2 years post‐TBI follow‐up. Significance: This study emphasizes the link between TBI and PTE and the chance of developing cognitive impairment in the future. Clinicians can target interventions to prevent PTE by identifying specific predictors, which helps them make care decisions and develop therapies to improve patients' quality of life. [ABSTRACT FROM AUTHOR]

Published
2024
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49. Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.

Author

Amin, Sam, Møller, Rikke S., Aledo‐Serrano, Angel, Arzimanoglou, Alexis, Bager, Patrick, Jóźwiak, Sergiusz, Kluger, Gerhard Josef, López‐Cabeza, Sandra, Nabbout, Rima, Partridge, Carol‐Anne, Schubert‐Bast, Susanne, Specchio, Nicola, and Kälviäinen, Reetta

Subjects
EPILEPSY, CARE of people, PATIENT advocacy, GENETIC mutation, PRESSURE groups
Abstract

Cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) is a developmental and epileptic encephalopathy caused by variants in the CDKL5 gene. The disorder is characterized by intractable early‐onset seizures, severe neurodevelopmental delay, hypotonia, motor disabilities, cerebral (cortical) visual impairment and microcephaly. With no disease‐modifying therapies available for CDD, treatment is symptomatic with an initial focus on seizure control. Another unmet need in the management of people with CDD is the lack of evidence to aid standardized care and guideline development. To address this gap, experts in CDD and representatives from patient advocacy groups from Denmark, Finland, France, Germany, Italy, Poland, Spain, and the United Kingdom convened to form an Expert Working Group. The aim was to provide an expert opinion consensus on how to ensure quality care in routine clinical practice within the European setting, including in settings with limited experience or resources for multidisciplinary care of CDD and other developmental and epileptic encephalopathies. By means of one‐to‐one interviews around the current treatment landscape in CDD, insights from the Expert Working Group were collated and developed into a Europe‐specific patient journey for individuals with CDD, which was later validated by the group. Further discussions followed to gain consensus of opinions on challenges and potential solutions for achieving quality care in this setting. The panel recognized the benefit of early genetic testing, a holistic personalized approach to seizure control (taking into consideration various factors such as concomitant medications and comorbidities), and age‐ and comorbidity‐dependent multidisciplinary care for optimizing patient outcomes and quality of life. However, their insights and experiences also highlighted much disparity in management approaches and resources across different European countries. Development of standardized European recommendations is required to align realistic diagnostic criteria, treatment goals, and management approaches that can be adapted for different settings. Plain language summary: Cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) is a rare condition caused by a genetic mutation with a broad range of symptoms apparent from early childhood, including epileptic seizures that do not respond to medication and severe delays in development. Due to the lack of guidance on managing CDD, international experts and patient advocates discussed best practices in the care of people with CDD in Europe. The panel agreed that early testing, a personalized approach to managing seizures, and access to care from different disciplines are beneficial. Development of guidelines to ensure that care is standardized would also be valuable. [ABSTRACT FROM AUTHOR]

Published
2024
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50. Developmental epileptic encephalopathy in DLG4‐related synaptopathy

Author

Kassabian, Benedetta, primary, Levy, Amanda M., additional, Gardella, Elena, additional, Aledo‐Serrano, Angel, additional, Ananth, Amitha L., additional, Brea‐Fernández, Alejandro J., additional, Caumes, Roseline, additional, Chatron, Nicolas, additional, Dainelli, Alice, additional, De Wachter, Matthias, additional, Denommé‐Pichon, Anne‐Sophie, additional, Dye, Thomas J., additional, Fazzi, Elisa, additional, Felt, Roxanne, additional, Fernández‐Jaén, Alberto, additional, Fernández‐Prieto, Montserrat, additional, Gantz, Emily, additional, Gasperowicz, Piotr, additional, Gil‐Nagel, Antonio, additional, Gómez‐Andrés, David, additional, Greiner, Hansel M., additional, Guerrini, Renzo, additional, Haanpää, Maria K., additional, Helin, Minttu, additional, Hoyer, Juliane, additional, Hurst, Anna C. E., additional, Kallish, Staci, additional, Karkare, Shefali N., additional, Khan, Amjad, additional, Kleinendorst, Lotte, additional, Koch, Johannes, additional, Kothare, Sanjeev V., additional, Koudijs, Suzanna V., additional, Lagae, Lieven, additional, Lakeman, Phillis, additional, Leppig, Kathleen A., additional, Lesca, Gaetan, additional, Lopergolo, Diego, additional, Lusk, Laina, additional, Mackenzie, Alex, additional, Mei, Davide, additional, Møller, Rikke S., additional, Pereira, Elaine M., additional, Platzer, Konrad, additional, Quelin, Chloe, additional, Revah‐Politi, Anya, additional, Rheims, Sylvain, additional, Rodríguez‐Palmero, Agustí, additional, Rossi, Andrea, additional, Santorelli, Filippo, additional, Seinfeld, Syndi, additional, Sell, Erick, additional, Stephenson, Donna, additional, Szczaluba, Krzysztof, additional, Trinka, Eugen, additional, Umair, Muhammad, additional, Van Esch, Hilde, additional, van Haelst, Mieke M., additional, Veenma, Danielle C. M., additional, Weber, Sacha, additional, Weckhuysen, Sarah, additional, Zacher, Pia, additional, Tümer, Zeynep, additional, and Rubboli, Guido, additional

Published
2023
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