Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

por Specchio, Nicola, Pietrafusa, Nicola, Trivisano, Marina
Publicado 2020

Epileptic Encephalopathy

por Specchio, Nicola, Trivisano, Marina, Scott, Rod C., Ferrie, Colin
Publicado 2012

Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids

por Borghi, Rossella, Magliocca, Valentina, Trivisano, Marina, Specchio, Nicola, Tartaglia, Marco, Bertini, Enrico, Compagnucci, Claudia
Publicado 2022

Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurog...

por Compagnucci, Claudia, Petrini, Stefania, Higuraschi, Norimichi, Trivisano, Marina, Specchio, Nicola, Hirose, Shinichi, Bertini, Enrico, Terracciano, Alessandra
Publicado 2015

Autism and Epilepsy in Patients With Tuberous Sclerosis Complex

por Specchio, Nicola, Pietrafusa, Nicola, Trivisano, Marina, Moavero, Romina, De Palma, Luca, Ferretti, Alessandro, Vigevano, Federico, Curatolo, Paolo
Publicado 2020

Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses

por Trivisano, Marina, Ferretti, Alessandro, Calabrese, Costanza, Pietrafusa, Nicola, Piscitello, Ludovica, Carfi' Pavia, Giusy, Vigevano, Federico, Specchio, Nicola
Publicado 2022

Impact of COVID-19 pandemic on pediatric patients with epilepsy – The caregiver perspective

por Trivisano, Marina, Specchio, Nicola, Pietrafusa, Nicola, Calabrese, Costanza, Ferretti, Alessandro, Ricci, Riccardo, Renzetti, Tommaso, Raponi, Massimiliano, Vigevano, Federico
Publicado 2020

Therapeutic Drug Monitoring of Quinidine in Pediatric Patients with KCNT1 Genetic Variants

por Ferretti, Alessandro, Simeoli, Raffaele, Cairoli, Sara, Pietrafusa, Nicola, Trivisano, Marina, Dionisi Vici, Carlo, Specchio, Nicola, Goffredo, Bianca Maria
Publicado 2022

Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review

por Trivisano, Marina, Butera, Ambra, Quintavalle, Chiara, De Dominicis, Angela, Calabrese, Costanza, Cappelletti, Simona, Vigevano, Federico, Novelli, Antonio, Specchio, Nicola
Publicado 2023

POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

por Specchio, Nicola, Pietrafusa, Nicola, Calabrese, Costanza, Trivisano, Marina, Pepi, Chiara, de Palma, Luca, Ferretti, Alessandro, Curatolo, Paolo, Vigevano, Federico
Publicado 2020

Fatal Status Epilepticus in Dravet Syndrome

por De Liso, Paola, Pironi, Virginia, Mastrangelo, Massimo, Battaglia, Domenica, Craiu, Dana, Trivisano, Marina, Specchio, Nicola, Nabbout, Rima, Vigevano, Federico
Publicado 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...

por De Liso, Paola, Pironi, Virginia, Mastrangelo, Massimo, Battaglia, Domenica, Craiu, Dana, Trivisano, Marina, Specchio, Nicola, Nabbout, Rima, Vigevano, Federico
Publicado 2021

Imbalance of Systemic Redox Biomarkers in Children with Epilepsy: Role of Ferroptosis

por Petrillo, Sara, Pietrafusa, Nicola, Trivisano, Marina, Calabrese, Costanza, Saura, Francesca, Gallo, Maria Giovanna, Bertini, Enrico Silvio, Vigevano, Federico, Specchio, Nicola, Piemonte, Fiorella
Publicado 2021

Refractory Status Epilepticus in Genetic Epilepsy—Is Vagus Nerve Stimulation an Option?

por Specchio, Nicola, Ferretti, Alessandro, Pietrafusa, Nicola, Trivisano, Marina, Calabrese, Costanza, Carfì Pavia, Giusy, De Benedictis, Alessandro, Marras, Carlo Efisio, de Palma, Luca, Vigevano, Federico
Publicado 2020

TELEmedicine for EPIlepsy Care (TELE-EPIC): protocol of a randomised, open controlled non-inferiority clinical trial

por Licchetta, Laura, Trivisano, Marina, Baldin, Elisa, Mohamed, Susan, Raschi, Emanuel, Mostacci, Barbara, Zenesini, Corrado, Contin, Manuela, Vigevano, Federico, Bisulli, Francesca, Tinuper, Paolo, Vignatelli, Luca
Publicado 2021

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

por Kolc, Kristy L., Sadleir, Lynette G., Depienne, Christel, Marini, Carla, Scheffer, Ingrid E., Møller, Rikke S., Trivisano, Marina, Specchio, Nicola, Pham, Duyen, Kumar, Raman, Roberts, Rachel, Gecz, Jozef
Publicado 2020

A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy

por Orlando, Valeria, Di Tommaso, Silvia, Alesi, Viola, Loddo, Sara, Genovese, Silvia, Catino, Giorgia, Martucci, Licia, Roberti, Maria Cristina, Trivisano, Marina, Dentici, Maria Lisa, Specchio, Nicola, Dallapiccola, Bruno, Ferretti, Alessandro, Novelli, Antonio
Publicado 2022

Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

por Gissen, Paul, Specchio, Nicola, Olaye, Andrew, Jain, Mohit, Butt, Thomas, Ghosh, Wrik, Ruban-Fell, Benjamin, Griffiths, Annabel, Camp, Charlotte, Sisic, Zlatko, Schwering, Christoph, Wibbeler, Eva, Trivisano, Marina, Lee, Laura, Nickel, Miriam, Mortensen, Amanda, Schulz, Angela
Publicado 2021

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series

por Wibbeler, Eva, Wang, Raymond, Reyes, Emily de los, Specchio, Nicola, Gissen, Paul, Guelbert, Norberto, Nickel, Miriam, Schwering, Christoph, Lehwald, Lenora, Trivisano, Marina, Lee, Laura, Amato, Gianni, Cohen-Pfeffer, Jessica, Shediac, Renée, Leal-Pardinas, Fernanda, Schulz, Angela
Publicado 2020

The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature

por Pepi, Chiara, de Palma, Luca, Trivisano, Marina, Pietrafusa, Nicola, Lepri, Francesca Romana, Diociaiuti, Andrea, Camassei, Francesca Diomedi, Carfi-Pavia, Giusy, De Benedictis, Alessandro, Rossi-Espagnet, Camilla, Vigevano, Federico, Marras, Carlo Efisio, Novelli, Antonio, Bluemcke, Ingmar, Specchio, Nicola
Publicado 2021