Genomic and clinical predictors of lacosamide response in refractory epilepsies

por Heavin, Sinéad B., McCormack, Mark, Wolking, Stefan, Slattery, Lisa, Walley, Nicole, Avbersek, Andreja, Novy, Jan, Sinha, Saurabh R., Radtke, Rod, Doherty, Colin, Auce, Pauls, Craig, John, Johnson, Michael R., Koeleman, Bobby P. C., Krause, Roland, Kunz, Wolfram S., Marson, Anthony G., O'Brien, Terence J., Sander, Josemir W., Sills, Graeme J., Stefansson, Hreinn, Striano, Pasquale, Zara, Federico, Depondt, Chantal, Sisodiya, Sanjay, Goldstein, David, Lerche, Holger, Cavalleri, Gianpiero L., Delanty, Norman
Publicado 2019

Sudden unexpected death in epilepsy: A critical view of the literature

por Giussani, Giorgia, Falcicchio, Giovanni, La Neve, Angela, Costagliola, Giorgio, Striano, Pasquale, Scarabello, Anna, Mostacci, Barbara, Beghi, Ettore
Publicado 2023

A genome‐wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine

por Berghuis, Bianca, Stapleton, Caragh, Sonsma, Anja C. M., Hulst, Janic, de Haan, Gerrit‐Jan, Lindhout, Dick, Demurtas, Rita, Krause, Roland, Depondt, Chantal, Kunz, Wolfram S., Zara, Federico, Striano, Pasquale, Craig, John, Auce, Pauls, Marson, Anthony G., Stefansson, Hreinn, O'Brien, Terence J., Johnson, Michael R., Sills, Graeme J., Wolking, Stefan, Lerche, Holger, Sisodiya, Sanjay M., Sander, Josemir W., Cavalleri, Gianpiero L., Koeleman, Bobby P. C., McCormack, Mark
Publicado 2019

Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy

por Efthymiou, Stephanie, Dutra‐Clarke, Marina, Maroofian, Reza, Kaiyrzhanov, Rauan, Scala, Marcello, Reza Alvi, Javeria, Sultan, Tipu, Christoforou, Marilena, Tuyet Mai Nguyen, Thi, Mankad, Kshitij, Vona, Barbara, Rad, Aboulfazl, Striano, Pasquale, Salpietro, Vincenzo, Guillen Sacoto, Maria J., Zaki, Maha S., Gleeson, Joseph G., Campeau, Philippe M., Russell, Bianca E., Houlden, Henry
Publicado 2021

A real‐life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy

por Riva, Antonella, Roberti, Roberta, D'Onofrio, Gianluca, Vari, Maria Stella, Amadori, Elisabetta, De Giorgis, Valentina, Cerminara, Caterina, Specchio, Nicola, Pietrafusa, Nicola, Tombini, Mario, Assenza, Giovanni, Cappanera, Silvia, Marini, Carla, Rasmini, Paolo, Veggiotti, Pierangelo, Zara, Federico, Russo, Emilio, Striano, Pasquale
Publicado 2023

De novo KCNA6 variants with attenuated K(V) 1.6 channel deactivation in patients with epilepsy

por Salpietro, Vincenzo, Galassi Deforie, Valentina, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M., Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, P. Y. Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G., Macaya, Alfons, Kullmann, Dimitri M., Houlden, Henry, Männikkö, Roope
Publicado 2022

Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review

por Dainelli, Alice, Iacomino, Michele, Rossato, Sara, Bugin, Samuela, Traverso, Monica, Severino, Mariasavina, Gustincich, Stefano, Capra, Valeria, Di Duca, Marco, Zara, Federico, Scala, Marcello, Striano, Pasquale
Publicado 2023

A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam

por Campbell, Ciarán, McCormack, Mark, Patel, Sonn, Stapleton, Caragh, Bobbili, Dheeraj, Krause, Roland, Depondt, Chantal, Sills, Graeme J., Koeleman, Bobby P., Striano, Pasquale, Zara, Federico, Sander, Josemir W., Lerche, Holger, Kunz, Wolfram S., Stefansson, Kari, Stefansson, Hreinn, Doherty, Colin P., Heinzen, Erin L., Scheffer, Ingrid E., Goldstein, David B., O'Brien, Terence, Cotter, David, Berkovic, Samuel F., Sisodiya, Sanjay M., Delanty, Norman, Cavalleri, Gianpiero L.
Publicado 2022

A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome

por Striano, Pasquale, Auvin, Stéphane, Collins, Abigail, Horvath, Rita, Scheffer, Ingrid E., Tzadok, Michal, Miller, Ian, Kay Koenig, Mary, Lacy, Adrian, Davis, Ronald, Garcia‐Cazorla, Angela, Saneto, Russell P., Brandabur, Melanie, Blair, Susan, Koutsoukos, Tony, De Vivo, Darryl
Publicado 2022

Dravet syndrome: A systematic literature review of the illness burden

por Strzelczyk, Adam, Lagae, Lieven, Wilmshurst, Jo M, Brunklaus, Andreas, Striano, Pasquale, Rosenow, Felix, Schubert‐Bast, Susanne
Publicado 2023

EpiNet as a way of involving more physicians and patients in epilepsy research: Validation study and accreditation process

por Bergin, Peter S., Beghi, Ettore, Sadleir, Lynette G., Brockington, Alice, Tripathi, Manjari, Richardson, Mark P., Bianchi, Elisa, Srivastava, Kavita, Jayabal, Jayaganth, Legros, Benjamin, Ossemann, Michel, McGrath, Nicole, Verrotti, Alberto, Tan, Hui Jan, Beretta, Simone, Frith, Richard, Iniesta, Ivan, Whitham, Emma, Wanigasinghe, Jithangi, Ezeala‐Adikaibe, Birinus, Striano, Pasquale, Rosemergy, Ian, Walker, Elizabeth B., Alkhidze, Maia, Rodriguez‐Leyva, Ildefonso, Ramírez González, Jose Alfredo, D'Souza, Wendyl J.
Publicado 2017

Diagnostic implications of genetic copy number variation in epilepsy plus

por Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Dennis, Djémié, Tania, Bartnik‐Glaska, Magdalena, Ceulemans, Berten, Helen Cross, J., Deconinck, Tine, Masi, Salvatore De, Dorn, Thomas, Guerrini, Renzo, Hoffman‐Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R., Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An‐Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J, Weckhuysen, Sarah, Zara, Federico, Jonghe, Peter De, Sisodiya, Sanjay M., Marini, Carla
Publicado 2019

Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy

por Silvennoinen, Katri, de Lange, Nikola, Zagaglia, Sara, Balestrini, Simona, Androsova, Ganna, Wassenaar, Merel, Auce, Pauls, Avbersek, Andreja, Becker, Felicitas, Berghuis, Bianca, Campbell, Ellen, Coppola, Antonietta, Francis, Ben, Wolking, Stefan, Cavalleri, Gianpiero L., Craig, John, Delanty, Norman, Johnson, Michael R., Koeleman, Bobby P. C., Kunz, Wolfram S., Lerche, Holger, Marson, Anthony G., O’Brien, Terence J., Sander, Josemir W., Sills, Graeme J., Striano, Pasquale, Zara, Federico, van der Palen, Job, Krause, Roland, Depondt, Chantal, Sisodiya, Sanjay M.
Publicado 2019

Atlas of lesion locations and postsurgical seizure freedom in focal cortical dysplasia: A MELD study

por Wagstyl, Konrad, Whitaker, Kirstie, Raznahan, Armin, Seidlitz, Jakob, Vértes, Petra E., Foldes, Stephen, Humphreys, Zachary, Hu, Wenhan, Mo, Jiajie, Likeman, Marcus, Davies, Shirin, Lenge, Matteo, Cohen, Nathan T., Tang, Yingying, Wang, Shan, Ripart, Mathilde, Chari, Aswin, Tisdall, Martin, Bargallo, Nuria, Conde‐Blanco, Estefanía, Pariente, Jose Carlos, Pascual‐Diaz, Saül, Delgado‐Martínez, Ignacio, Pérez‐Enríquez, Carmen, Lagorio, Ilaria, Abela, Eugenio, Mullatti, Nandini, O'Muircheartaigh, Jonathan, Vecchiato, Katy, Liu, Yawu, Caligiuri, Maria, Sinclair, Ben, Vivash, Lucy, Willard, Anna, Kandasamy, Jothy, McLellan, Ailsa, Sokol, Drahoslav, Semmelroch, Mira, Kloster, Ane, Opheim, Giske, Yasuda, Clarissa, Zhang, Kai, Hamandi, Khalid, Barba, Carmen, Guerrini, Renzo, Gaillard, William Davis, You, Xiaozhen, Wang, Irene, González‐Ortiz, Sofía, Severino, Mariasavina, Striano, Pasquale, Tortora, Domenico, Kalviainen, Reetta, Gambardella, Antonio, Labate, Angelo, Desmond, Patricia, Lui, Elaine, O'Brien, Terry, Shetty, Jay, Jackson, Graeme, Duncan, John S., Winston, Gavin P., Pinborg, Lars, Cendes, Fernando, Cross, Judith Helen, Baldeweg, Torsten, Adler, Sophie
Publicado 2021

Effectiveness of perampanel as the only add‐on: Retrospective, multicenter, observational real‐life study on epilepsy patients

por Gasparini, Sara, Ferlazzo, Edoardo, Neri, Sabrina, Cianci, Vittoria, Iudice, Alfonso, Bisulli, Francesca, Bonanni, Paolo, Caggia, Emanuele, D'Aniello, Alfredo, Di Bonaventura, Carlo, DiFrancesco, Jacopo C., Domina, Elisabetta, Dono, Fedele, Gambardella, Antonio, Marini, Carla, Marrelli, Alfonso, Matricardi, Sara, Morano, Alessandra, Paladin, Francesco, Renna, Rosaria, Striano, Pasquale, Pascarella, Angelo, Ascoli, Michele, Aguglia, Umberto, Carla, Arbasino, Irene, Bagnasco, Pierangelo, Barbero, Emanuele, Bartolini, Bassetti, Maria A., Vincenzo, Belcastro, Simone, Beretta, Vanni, Boero, Alice, Bonuccelli, Emanuele, Caggia, Roberto, Cantello, Susanna, Casellato, Natascia, Casula, Edward, Cesnik, Clotilde, Ciampa, Maria, Cipriani Anna, Mario, Coletti Moja, Marta, Conti, Giangennaro, Coppola, Francesco, Corea, Giovanni, Crichiutti, Giuseppe, d’Orsi, Filippo, Dainese, Alberto, Danieli, Marco, De Curtis, Valentina, De Giorgis, Luigi, Del Gaudio, Francesco, Deleo, Giancarlo, Di Gennaro, Evangelista, Giacomo, Stefania, Filipponi, Francesco, Fortunato, Attilio, Gagliano, Thea, Giacomini, Francesca, Gilio, Alfonso, Giordano, Loretta, Giuliano, Shalom, Haggiag, Stella, Jensen, Angelo, Labate, Angelica, Lupato, Greta, Macorig, Margherita, Mancardi Maria, Daniela, Marino, Alfonso, Marrelli, Barbara, Mostacci, Lorenzo, Muccioli, Susanna, Negri, Francesca, Operto, Alessandro, Orsini, Pasquale, Palumbo, Mariagrazia, Pascarella, Alessia, Peretti, Gabriella, Perri, Federica, Pondrelli, Giuseppina, Pustorino, Federica, Ranzato, Serena, Servo, Laura, Siri, Orazio, Spitaleri, Andrea, Stabile, Gionata, Strigaro, Paolo, Tinuper, Costanza, Varesio
Publicado 2022

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

por 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 A. K., 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
Publicado 2022