The Etiological Role of Blood-Brain Barrier Dysfunction in Seizure Disorders

por Marchi, Nicola, Tierney, William, Alexopoulos, Andreas V., Puvenna, Vikram, Granata, Tiziana, Janigro, Damir
Publicado 2011

Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy

por Solazzi, Roberta, Moscatelli, Marco, Sebastiano, Davide Rossi, Canafoglia, Laura, Pezzoli, Laura, Iascone, Maria, Granata, Tiziana
Publicado 2022

Case report: SLC6A1 mutations presenting with isolated absence seizures: description of 2 novel cases

por Caputo, Davide, Franceschetti, Silvana, Castellotti, Barbara, Freri, Elena, Zorzi, G., Saletti, Veronica, Canafoglia, Laura, Granata, Tiziana
Publicado 2023

Efficacy of Anti-Inflammatory Therapy in a Model of Acute Seizures and in a Population of Pediatric Drug Resistant Epileptics

por Marchi, Nicola, Granata, Tiziana, Freri, Elena, Ciusani, Emilio, Ragona, Francesca, Puvenna, Vikram, Teng, Quingshan, Alexopolous, Andreas, Janigro, Damir
Publicado 2011

Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes

por Mosca, Ilaria, Rivolta, Ilaria, Labalme, Audrey, Ambrosino, Paolo, Castellotti, Barbara, Gellera, Cinzia, Granata, Tiziana, Freri, Elena, Binda, Anna, Lesca, Gaetan, DiFrancesco, Jacopo C., Soldovieri, Maria Virginia, Taglialatela, Maurizio
Publicado 2022

Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes

por Castellotti, Barbara, Canafoglia, Laura, Freri, Elena, Tappatà, Maria, Messina, Giuliana, Magri, Stefania, DiFrancesco, Jacopo C., Fanella, Martina, Di Bonaventura, Carlo, Morano, Alessandra, Granata, Tiziana, Gellera, Cinzia, Franceschetti, Silvana, Michelucci, Roberto
Publicado 2023

Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

por Rinaldi, Berardo, Ge, Yu-Han, Freri, Elena, Tucci, Arianna, Granata, Tiziana, Estienne, Margherita, Sun, Jia-Hui, Gérard, Bénédicte, Bayat, Allan, Efthymiou, Stephanie, Gervasini, Cristina, Shi, Yun Stone, Houlden, Henry, Marchisio, Paola, Milani, Donatella
Publicado 2021

Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

por Rinaldi, Berardo, Ge, Yu‑Han, Freri, Elena, Tucci, Arianna, Granata, Tiziana, Estienne, Margherita, Sun, Jia‑Hui, Gérard, Bénédicte, Bayat, Allan, Efthymiou, Stephanie, Gervasini, Cristina, Shi, Yun Stone, Houlden, Henry, Marchisio, Paola, Milani, Donatella
Publicado 2021

CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome

por Specchio, Nicola, Trivisano, Marina, Lenge, Matteo, Ferretti, Alessandro, Mei, Davide, Parrini, Elena, Napolitano, Antonio, Rossi-Espagnet, Camilla, Talenti, Giacomo, Longo, Daniela, Proietti, Jacopo, Ragona, Francesca, Freri, Elena, Solazzi, Roberta, Granata, Tiziana, Darra, Francesca, Bernardina, Bernardo Dalla, Vigevano, Federico, Guerrini, Renzo
Publicado 2023

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

por Diodato, Daria, Melchionda, Laura, Haack, Tobias B, Dallabona, Cristina, Baruffini, Enrico, Donnini, Claudia, Granata, Tiziana, Ragona, Francesca, Balestri, Paolo, Margollicci, Maria, Lamantea, Eleonora, Nasca, Alessia, Powell, Christopher A, Minczuk, Michal, Strom, Tim M, Meitinger, Thomas, Prokisch, Holger, Lamperti, Costanza, Zeviani, Massimo, Ghezzi, Daniele
Publicado 2014

A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability

por Campostrini, Giulia, DiFrancesco, Jacopo C., Castellotti, Barbara, Milanesi, Raffaella, Gnecchi-Ruscone, Tomaso, Bonzanni, Mattia, Bucchi, Annalisa, Baruscotti, Mirko, Ferrarese, Carlo, Franceschetti, Silvana, Canafoglia, Laura, Ragona, Francesca, Freri, Elena, Labate, Angelo, Gambardella, Antonio, Costa, Cinzia, Gellera, Cinzia, Granata, Tiziana, Barbuti, Andrea, DiFrancesco, Dario
Publicado 2018

GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders

por Varesio, Costanza, De Giorgis, Valentina, Veggiotti, Pierangelo, Nardocci, Nardo, Granata, Tiziana, Ragona, Francesca, Pasca, Ludovica, Mensi, Martina Maria, Borgatti, Renato, Olivotto, Sara, Previtali, Roberto, Riva, Antonella, Mancardi, Maria Margherita, Striano, Pasquale, Cavallin, Mara, Guerrini, Renzo, Operto, Francesca Felicia, Pizzolato, Alice, Di Maulo, Ruggero, Martino, Fabiola, Lodi, Andrea, Marini, Carla
Publicado 2023

The Movement disorder associated with NMDAR antibody-encephalitis is complex and characteristic: an expert video-rating study

por Varley, James A, Webb, Alastair J S, Balint, Bettina, Fung, Victor S C, Sethi, Kapil D, Tijssen, Marina A J, Lynch, Timothy, Mohammad, Shakeeb S, Britton, Fiona, Evans, Matthew, Hacohen, Yael, Lin, Jean-Pierre, Nardocci, Nardo, Granata, Tiziana, Dale, Russell C, Lim, Ming J, Bhatia, Kailash P, Lang, Anthony E, Irani, Sarosh R
Publicado 2019

Anakinra usage in febrile infection related epilepsy syndrome: an international cohort

por Lai, Yi‐Chen, Muscal, Eyal, Wells, Elizabeth, Shukla, Nikita, Eschbach, Krista, Hyeong Lee, Ki, Kaliakatsos, Marios, Desai, Nevedita, Wickström, Ronny, Viri, Maurizio, Freri, Elena, Granata, Tiziana, Nangia, Srishti, Dilena, Robertino, Brunklaus, Andreas, Wainwright, Mark S., Gorman, Mark P., Stredny, Coral M., Asiri, Abdurhman, Hundallah, Khalid, Doja, Asif, Payne, Eric, Wirrell, Elaine, Koh, Sookyong, Carpenter, Jessica L., Riviello, James
Publicado 2020

Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases

por Canafoglia, Laura, Franceschetti, Silvana, Gambardella, Antonio, Striano, Pasquale, Giallonardo, Anna Teresa, Tinuper, Paolo, Di Bonaventura, Carlo, Michelucci, Roberto, Ferlazzo, Edoardo, Granata, Tiziana, Magaudda, Adriana, Licchetta, Laura, Filla, Alessandro, La Neve, Angela, Riguzzi, Patrizia, Cantisani, Teresa Anna, Fanella, Martina, CASTELLOTTI, BARBARA, Gellera, Cinzia, Bahlo, Melanie, Zara, Federico, Courage, Carolina, Lehesjoki, Anna-Elina, Oliver, Karen L., Berkovic, Samuel F.
Publicado 2021

A registry for Dravet syndrome: The Italian experience

por Balestrini, Simona, Doccini, Viola, Giometto, Sabrina, Lucenteforte, Ersilia, De Masi, Salvatore, Giarola, Elisa, Brambilla, Isabella, Pieroni, Federica, Perulli, Marco, Battaglia, Domenica, Specchio, Nicola, Ragona, Francesca, Granata, Tiziana, Pellacani, Simona, Ferrari, Annarita, Marini, Carla, Matricardi, Sara, Cesaroni, Elisabetta, Giordano, Lucio, Accorsi, Patrizia, Sciruicchio, Vittorio, Tinuper, Paolo, Messana, Tullio, Russo, Angelo, Pruna, Dario, Nosadini, Margherita, De Giorgis, Valentina, Caputo, Davide, Pellegrin, Serena, Lo Barco, Tommaso, Darra, Francesca, Dalla Bernardina, Bernardo, Guerrini, Renzo
Publicado 2023

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

por Jaffer, Fatima, Avbersek, Andreja, Vavassori, Rosaria, Fons, Carmen, Campistol, Jaume, Stagnaro, Michela, De Grandis, Elisa, Veneselli, Edvige, Rosewich, Hendrik, Gianotta, Melania, Zucca, Claudio, Ragona, Francesca, Granata, Tiziana, Nardocci, Nardo, Mikati, Mohamed, Helseth, Ashley R., Boelman, Cyrus, Minassian, Berge A., Johns, Sophia, Garry, Sarah I., Scheffer, Ingrid E., Gourfinkel-An, Isabelle, Carrilho, Ines, Aylett, Sarah E., Parton, Matthew, Hanna, Michael G., Houlden, Henry, Neville, Brian, Kurian, Manju A., Novy, Jan, Sander, Josemir W., Lambiase, Pier D., Behr, Elijah R., Schyns, Tsveta, Arzimanoglou, Alexis, Cross, J. Helen, Kaski, Juan P., Sisodiya, Sanjay M.
Publicado 2015

Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox–Gastaut Syndrome

por Iannone, Luigi Francesco, Arena, Gabriele, Battaglia, Domenica, Bisulli, Francesca, Bonanni, Paolo, Boni, Antonella, Canevini, Maria Paola, Cantalupo, Gaetano, Cesaroni, Elisabetta, Contin, Manuela, Coppola, Antonietta, Cordelli, Duccio Maria, Cricchiuti, Giovanni, De Giorgis, Valentina, De Leva, Maria Fulvia, De Rinaldis, Marta, d'Orsi, Giuseppe, Elia, Maurizio, Galimberti, Carlo Andrea, Morano, Alessandra, Granata, Tiziana, Guerrini, Renzo, Lodi, Monica A. M., La Neve, Angela, Marchese, Francesca, Masnada, Silvia, Michelucci, Roberto, Nosadini, Margherita, Pilolli, Nicola, Pruna, Dario, Ragona, Francesca, Rosati, Anna, Santucci, Margherita, Spalice, Alberto, Pietrafusa, Nicola, Striano, Pasquale, Tartara, Elena, Tassi, Laura, Papa, Amanda, Zucca, Claudio, Russo, Emilio, Mecarelli, Oriano
Publicado 2021

Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD

por Nosadini, Margherita, Eyre, Michael, Giacomini, Thea, Valeriani, Massimiliano, Della Corte, Marida, Praticò, Andrea D., Annovazzi, Pietro, Cordani, Ramona, Cordelli, Duccio Maria, Crichiutti, Giovanni, Di Rosa, Gabriella, Dolcemascolo, Valentina, Fetta, Anna, Freri, Elena, Gallo, Paolo, Gastaldi, Matteo, Granata, Tiziana, Grazian, Luisa, Iorio, Raffaele, Lombardini, Martina, Margoni, Monica, Mariotto, Sara, Matricardi, Sara, Melani, Federico, Nardocci, Nardo, Papetti, Laura, Passarini, Alice, Pisani, Francesco, Po', Chiara, Puthenparampil, Marco, Ragona, Francesca, Savasta, Salvatore, Siliquini, Sabrina, Toldo, Irene, Tozzo, Alessandra, Turco, Emanuela Claudia, Varone, Antonio, Vogrig, Alberto, Zuliani, Luigi, Bugin, Samuela, Rossato, Sara, Orsini, Alessandro, Cantalupo, Gaetano, Mancardi, Maria Margherita, Ferilli, Michela Ada Noris, Foiadelli, Thomas, Sartori, Stefano
Publicado 2022

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

por Schwarz, Niklas, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, Brünger, Tobias, Hedrich, Ulrike B.S., Augustijn, Paul B., Baier, Hartmut, Bayat, Allan, Bisulli, Francesca, Buono, Russell J., Bruria, Ben Zeev, Doyle, Michael G., Guerrini, Renzo, Heimer, Gali, Iacomino, Michele, Kearney, Hugh, Klein, Karl Martin, Kousiappa, Ioanna, Kunz, Wolfram S., Lerche, Holger, Licchetta, Laura, Lohmann, Ebba, Minardi, Raffaella, McDonald, Marie, Montgomery, Sarah, Mulahasanovic, Lejla, Oegema, Renske, Ortal, Barel, Papacostas, Savvas S., Ragona, Francesca, Granata, Tiziana, Reif, Phillip S., Rosenow, Felix, Rothschild, Annick, Scudieri, Paolo, Striano, Pasquale, Tinuper, Paolo, Tanteles, George A., Vetro, Annalisa, Zahnert, Felix, Goldberg, Ethan M., Zara, Federico, Lal, Dennis, May, Patrick, Muhle, Hiltrud, Helbig, Ingo, Weber, Yvonne
Publicado 2022