Ketogenic Diets in the Treatment of Epilepsy
Elia, Maurizio, Klepper, Joerg, Leiendecker, Baerbel, Hartmann, Hans
Published in Current pharmaceutical design (01.01.2017)
Published in Current pharmaceutical design (01.01.2017)
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The Role of Supplements and Over-the-Counter Products to Improve Sleep in Children: A Systematic Review
Innocenti, Alice, Lentini, Giuliana, Rapacchietta, Serena, Cinnirella, Paola, Elia, Maurizio, Ferri, Raffaele, Bruni, Oliviero
Published in International journal of molecular sciences (25.04.2023)
Published in International journal of molecular sciences (25.04.2023)
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Epilepsy in cerebrovascular diseases: Review of experimental and clinical data with meta‐analysis of risk factors
Ferlazzo, Edoardo, Gasparini, Sara, Beghi, Ettore, Sueri, Chiara, Russo, Emilio, Leo, Antonio, Labate, Angelo, Gambardella, Antonio, Belcastro, Vincenzo, Striano, Pasquale, Paciaroni, Maurizio, Pisani, Laura Rosa, Aguglia, Umberto, Aloisi, Paolo, Arcudi, Luciano, Benna, Paolo, Bianchi, Amedeo, Bogliun, Graziella, Buttinelli, Carla, Campostrini, Roberto, Cantello, Roberto, Cianci, Vittoria, Consoli, Domenico, Coppola, Antonietta, Costanzo, Erminio, De Falco, Fabrizio Antonio, De Maria, Giovanni, Elia, Maurizio, Franceschetti, Silvana, Galimberti, Carlo Andrea, Giallonardo, Anna Teresa, Gigli, Gian Luigi, Iannacchero, Rosario, Iudice, Alfonso, La Neve, Angela, Latella, Maria Adele, Le Piane, Emilio, Magaudda, Adriana, Marciani, Maria Grazia, Maschio, Marta, Mecarelli, Oriano, Michelucci, Roberto, Minicucci, Fabio, Moglia, Arrigo, Monti, Fabrizio, Mumoli, Laura, Musolino, Rosa, Nozzoli, Cecilia, Paciello, Nicola, Paladin, Francesco, Palumbo, Pasquale, Pisani, Francesco, Primavera, Alberto, Rocchi, Raffaele, Sartucci, Ferdinando, Sasanelli, Francesco, Silvestri, Rosalia, Sofia, Vito, Specchio, Luigi M, Striano, Salvatore, Tinuper, Paolo, Villani, Flavio, Zaccara, Gaetano
Published in Epilepsia (Copenhagen) (01.08.2016)
Published in Epilepsia (Copenhagen) (01.08.2016)
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Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies
Vetri, Luigi, Calì, Francesco, Saccone, Salvatore, Vinci, Mirella, Chiavetta, Natalia Valeria, Carotenuto, Marco, Roccella, Michele, Costanza, Carola, Elia, Maurizio
Published in International journal of molecular sciences (01.01.2024)
Published in International journal of molecular sciences (01.01.2024)
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The pharmacological management of Lennox-Gastaut syndrome and critical literature review
Verrotti, Alberto, Striano, Pasquale, Iapadre, Giulia, Zagaroli, Luca, Bonanni, Paolo, Coppola, Giangennaro, Elia, Maurizio, Mecarelli, Oriano, Franzoni, Emilio, Liso, Paola De, Vigevano, Federico, Curatolo, Paolo
Published in Seizure (London, England) (01.12.2018)
Published in Seizure (London, England) (01.12.2018)
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STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy
Vinci, Mirella, Costanza, Carola, Galati Rando, Rosanna, Treccarichi, Simone, Saccone, Salvatore, Carotenuto, Marco, Roccella, Michele, Calì, Francesco, Elia, Maurizio, Vetri, Luigi
Published in International journal of molecular sciences (01.11.2023)
Published in International journal of molecular sciences (01.11.2023)
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A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability
Vinci, Mirella, Treccarichi, Simone, Galati Rando, Rosanna, Musumeci, Antonino, Todaro, Valeria, Federico, Concetta, Saccone, Salvatore, Elia, Maurizio, Calì, Francesco
Published in Scientific reports (09.07.2024)
Published in Scientific reports (09.07.2024)
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CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy
Dell’Isola, Giovanni Battista, Fattorusso, Antonella, Pisani, Francesco, Mastrangelo, Mario, Cordelli, Duccio Maria, Pavone, Piero, Parisi, Pasquale, Ferretti, Alessandro, Operto, Francesca Felicia, Elia, Maurizio, Carotenuto, Marco, Pruna, Dario, Matricardi, Sara, Spezia, Elisabetta, Spalice, Alberto, Scorrano, Giovanna, Savasta, Salvatore, Prontera, Paolo, Di Cara, Giuseppe, Fruttini, Daniela, Salpietro, Vincenzo, Striano, Pasquale, Verrotti, Alberto
Published in Journal of neurology (01.08.2024)
Published in Journal of neurology (01.08.2024)
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A Genetic Variant That Disrupts MET Transcription Is Associated with Autism
Campbell, Daniel B., Sutcliffe, James S., Ebert, Philip J., Militerni, Roberto, Bravaccio, Carmela, Trillo, Simona, Elia, Maurizio, Schneider, Cindy, Melmed, Raun, Sacco, Roberto, Persico, Antonio M., Levitt, Pat
Published in Proceedings of the National Academy of Sciences - PNAS (07.11.2006)
Published in Proceedings of the National Academy of Sciences - PNAS (07.11.2006)
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Gillentine, Madelyn A, Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N, De Vries, Bert B A, Vissers, Lisenka E L M, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A, Bhat, Gifty, Cobian, Katherine, Bird, Lynne M, Friedman, Jennifer, Wright, Meredith S, Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K, White, Kerry M, Elpeleg, Orly, Berger, Itai, Espineli, Edward J, Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L Manace, Mckee, Shane, Mirzaa, Ghayda M, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E H, van Gassen, Koen L I, Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K, Nowakowski, Tomasz, Bernier, Raphael A, Eichler, Evan E
Published in Genome medicine (19.04.2021)
Published in Genome medicine (19.04.2021)
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Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders
Treccarichi, Simone, Calì, Francesco, Vinci, Mirella, Ragalmuto, Alda, Musumeci, Antonino, Federico, Concetta, Costanza, Carola, Bottitta, Maria, Greco, Donatella, Saccone, Salvatore, Elia, Maurizio
Published in Current Issues in Molecular Biology (01.07.2024)
Published in Current Issues in Molecular Biology (01.07.2024)
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An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy
Elia, Maurizio, Amato, Carmelo, Bottitta, Maria, Grillo, Lucia, Calabrese, Giuseppe, Esposito, Maria, Carotenuto, Marco
Published in Brain & development (Tokyo. 1979) (01.11.2012)
Published in Brain & development (Tokyo. 1979) (01.11.2012)
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Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy
Vinci, Mirella, Vitello, Girolamo Aurelio, Greco, Donatella, Treccarichi, Simone, Ragalmuto, Alda, Musumeci, Antonino, Fallea, Antonio, Federico, Concetta, Calì, Francesco, Saccone, Salvatore, Elia, Maurizio
Published in Current issues in molecular biology (01.02.2024)
Published in Current issues in molecular biology (01.02.2024)
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Epilepsy: A Multifaced Spectrum Disorder
Vetri, Luigi, Roccella, Michele, Parisi, Lucia, Smirni, Daniela, Costanza, Carola, Carotenuto, Marco, Elia, Maurizio
Published in Behavioral sciences (23.01.2023)
Published in Behavioral sciences (23.01.2023)
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Determination of Perampanel in Dried Plasma Spots: Applicability to Therapeutic Drug Monitoring
Franco, Valentina, Baruffi, Katia, Marchiselli, Roberto, Crema, Francesca, Fattore, Cinzia, Romigi, Andrea, De Giorgis, Valentina, Tartara, Elena, Elia, Maurizio, D'Avolio, Antonio, Perucca, Emilio
Published in Therapeutic drug monitoring (01.04.2020)
Published in Therapeutic drug monitoring (01.04.2020)
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From Cannabis to Cannabidiol to Treat Epilepsy, Where Are We?
Lippiello, Pellegrino, Balestrini, Simona, Leo, Antonio, Coppola, Antonietta, Citraro, Rita, Elia, Maurizio, Russo, Emilio, De Sarro, Giovambattista
Published in Current pharmaceutical design (01.01.2016)
Published in Current pharmaceutical design (01.01.2016)
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SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
Marini, Carla, Scheffer, Ingrid E., Nabbout, Rima, Mei, Davide, Cox, Kathy, Dibbens, Leanne M., McMahon, Jacinta M., Iona, Xenia, Carpintero, Rochio Sanchez, Elia, Maurizio, Cilio, Maria Roberta, Specchio, Nicola, Giordano, Lucio, Striano, Pasquale, Gennaro, Elena, Cross, J. Helen, Kivity, Sara, Neufeld, Miriam Y., Afawi, Zaid, Andermann, Eva, Keene, Daniel, Dulac, Olivier, Zara, Federico, Berkovic, Samuel F., Guerrini, Renzo, Mulley, John C.
Published in Epilepsia (Copenhagen) (01.07.2009)
Published in Epilepsia (Copenhagen) (01.07.2009)
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Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P., Gillentine, Madelyn A., Wilfert, Amy B., Perez-Jurado, Luis A., Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K., Rosenfeld, Jill A., Geisheker, Madeleine R., Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E., Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette J. V., Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J., Manning, Melanie A., Liu, Pengfei, Scheffer, Ingrid E., Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G., Santen, Gijs W. E., Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J., Pierce, Karen, Courchesne, Eric, Kooy, R. Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A., Gecz, Jozef, Xia, Kun, Eichler, Evan E.
Published in Nature communications (21.10.2020)
Published in Nature communications (21.10.2020)
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Sensory Profiles of Children with Autism Spectrum Disorder with and without Feeding Problems: A Comparative Study in Sicilian Subjects
Panerai, Simonetta, Ferri, Raffaele, Catania, Valentina, Zingale, Marinella, Ruccella, Daniela, Gelardi, Donatella, Fasciana, Daniela, Elia, Maurizio
Published in Brain sciences (31.05.2020)
Published in Brain sciences (31.05.2020)
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