Role of high-density EEG (hdEEG) in pre-surgical epilepsy evaluation in children: case report and review of the literature

著者: Quintiliani, Michela, Bianchi, Federico, Fuggetta, Filomena, Chieffo, Daniela Pia Rosaria, Ramaglia, Antonia, Battaglia, Domenica Immacolata, Tamburrini, Gianpiero
出版年 Childs Nerv Syst (2021)

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine

著者: Marini, Carla, Conti, Valerio, Mei, Davide, Battaglia, Domenica, Lettori, Donatella, Losito, Emma, Bruccini, Grazia, Tortorella, Gaetano, Guerrini, Renzo
出版事項 2012

Functional Characterization of a Novel KCNJ11 in Frame Mutation-Deletion Associated with Infancy-Onset Diabetes and a Mild Form of Intermediate DEND: A Battle between K(ATP) Gain o...

著者: Lin, Yu-Wen, Li, Anlong, Grasso, Valeria, Battaglia, Domenica, Crinò, Antonino, Colombo, Carlo, Barbetti, Fabrizio, Nichols, Colin G.
出版事項 2013

Fatal Status Epilepticus in Dravet Syndrome

著者: De Liso, Paola, Pironi, Virginia, Mastrangelo, Massimo, Battaglia, Domenica, Craiu, Dana, Trivisano, Marina, Specchio, Nicola, Nabbout, Rima, Vigevano, Federico
出版年 Brain Sci (2020)

Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status...

著者: De Liso, Paola, Pironi, Virginia, Mastrangelo, Massimo, Battaglia, Domenica, Craiu, Dana, Trivisano, Marina, Specchio, Nicola, Nabbout, Rima, Vigevano, Federico
出版年 Brain Sci (2021)

Atypical Presentation of Renal Angiomyolipomas in a Child with Tuberous Sclerosis Complex

著者: Ferrara, Pietro, Romano, Valerio, Gatto, Antonio, Vitelli, Ottavio, Liberatore, Pio, Passera, Sofia, Bottaro, Giorgia, del Bufalo, Francesca, Martinelli, Diego, Del Re, Maria, Battaglia, Domenica
出版事項 2011

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

著者: Sprovieri, Teresa, Ungaro, Carmine, Sivo, Serena, Quintiliani, Michela, Contaldo, Ilaria, Veredice, Chiara, Citrigno, Luigi, Muglia, Maria, Cavalcanti, Francesca, Cavallaro, Sebastiano, Mercuri, Eugenio, Battaglia, Domenica
出版年 BMC Med Genet (2019)

Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation

著者: Battaglia, Domenica, Lin, Yu-Wen, Brogna, Claudia, Crinò, Antonino, Grasso, Valeria, Mozzi, Alessia F, Russo, Lucia, Spera, Sabrina, Colombo, Carlo, Ricci, Stefano, Nichols, Colin G, Mercuri, Eugenio, Barbetti, Fabrizio
出版事項 2012

A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset

著者: De Rose, Domenico Umberto, Gallini, Francesca, Battaglia, Domenica Immacolata, Tiberi, Eloisa, Gaudino, Simona, Contaldo, Ilaria, Veredice, Chiara, Romeo, Domenico Marco, Massimi, Luca, Asaro, Alessia, Cereda, Cristina, Vento, Giovanni, Mercuri, Eugenio Maria
出版年 Neurol Sci (2021)

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

著者: Cafiero, Concetta, Marangi, Giuseppe, Orteschi, Daniela, Ali, Marwan, Asaro, Alessia, Ponzi, Emanuela, Moncada, Alice, Ricciardi, Stefania, Murdolo, Marina, Mancano, Giorgia, Contaldo, Ilaria, Leuzzi, Vincenzo, Battaglia, Domenica, Mercuri, Eugenio, Slavotinek, Anne M, Zollino, Marcella
出版年 Eur J Hum Genet (2015)

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

著者: Cetica, Valentina, Chiari, Sara, Mei, Davide, Parrini, Elena, Grisotto, Laura, Marini, Carla, Pucatti, Daniela, Ferrari, Annarita, Sicca, Federico, Specchio, Nicola, Trivisano, Marina, Battaglia, Domenica, Contaldo, Ilaria, Zamponi, Nelia, Petrelli, Cristina, Granata, Tiziana, Ragona, Francesca, Avanzini, Giuliano, Guerrini, Renzo
出版年 Neurology (2017)

Efficacy of ketamine in refractory convulsive status epilepticus in children: a protocol for a sequential design, multicentre, randomised, controlled, open-label, non-profit trial...

著者: Rosati, Anna, Ilvento, Lucrezia, L'Erario, Manuela, De Masi, Salvatore, Biggeri, Annibale, Fabbro, Giancarlo, Bianchi, Roberto, Stoppa, Francesca, Fusco, Lucia, Pulitanò, Silvia, Battaglia, Domenica, Pettenazzo, Andrea, Sartori, Stefano, Biban, Paolo, Fontana, Elena, Cesaroni, Elisabetta, Mora, Donatella, Costa, Paola, Meleleo, Rosanna, Vittorini, Roberta, Conio, Alessandra, Wolfler, Andrea, Mastrangelo, Massimo, Mondardini, Maria Cristina, Franzoni, Emilio, McGreevy, Kathleen S, Di Simone, Lorena, Pugi, Alessandra, Mirabile, Lorenzo, Vigevano, Federico, Guerrini, Renzo
出版年 BMJ Open (2016)

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

著者: Garau, Jessica, Cavallera, Vanessa, Valente, Marialuisa, Tonduti, Davide, Sproviero, Daisy, Zucca, Susanna, Battaglia, Domenica, Battini, Roberta, Bertini, Enrico, Cappanera, Silvia, Chiapparini, Luisa, Crasà, Camilla, Crichiutti, Giovanni, Giustina, Elvio Dalla, D’Arrigo, Stefano, Giorgis, Valentina De, Simone, Micaela De, Galli, Jessica, Piana, Roberta La, Messana, Tullio, Moroni, Isabella, Nardocci, Nardo, Panteghini, Celeste, Parazzini, Cecilia, Pichiecchio, Anna, Pini, Antonella, Ricci, Federica, Saletti, Veronica, Salvatici, Elisabetta, Santorelli, Filippo M., Sartori, Stefano, Tinelli, Francesca, Uggetti, Carla, Veneselli, Edvige, Zorzi, Giovanna, Garavaglia, Barbara, Fazzi, Elisa, Orcesi, Simona, Cereda, Cristina
出版年 J Clin Med (2019)

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

著者: Syrbe, Steffen, Harms, Frederike L, Parrini, Elena, Montomoli, Martino, Mütze, Ulrike, Helbig, Katherine L, Polster, Tilman, Albrecht, Beate, Bernbeck, Ulrich, van Binsbergen, Ellen, Biskup, Saskia, Burglen, Lydie, Denecke, Jonas, Heron, Bénédicte, Heyne, Henrike O, Hoffmann, Georg F, Hornemann, Frauke, Matsushige, Takeshi, Matsuura, Ryuki, Kato, Mitsuhiro, Korenke, G Christoph, Kuechler, Alma, Lämmer, Constanze, Merkenschlager, Andreas, Mignot, Cyril, Ruf, Susanne, Nakashima, Mitsuko, Saitsu, Hirotomo, Stamberger, Hannah, Pisano, Tiziana, Tohyama, Jun, Weckhuysen, Sarah, Werckx, Wendy, Wickert, Julia, Mari, Francesco, Verbeek, Nienke E, Møller, Rikke S, Koeleman, Bobby, Matsumoto, Naomichi, Dobyns, William B, Battaglia, Domenica, Lemke, Johannes R, Kutsche, Kerstin, Guerrini, Renzo
出版年 Brain (2017)

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

著者: 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
出版年 Front Neurol (2021)