Fatal Status Epilepticus in Dravet Syndrome

by Paola De Liso, Virginia Pironi, Massimo Mastrangelo, Domenica Battaglia, Dana Craiu, Marina Trivisano, Nicola Specchio, Rima Nabbout, Federico Vigevano
Published 2020-11-01

POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

by Nicola Specchio, Nicola Pietrafusa, Costanza Calabrese, Marina Trivisano, Chiara Pepi, Luca de Palma, Alessandro Ferretti, Paolo Curatolo, Federico Vigevano
Published 2020-10-01

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...

by Paola De Liso, Virginia Pironi, Massimo Mastrangelo, Domenica Battaglia, Dana Craiu, Marina Trivisano, Nicola Specchio, Rima Nabbout, Federico Vigevano
Published 2021-06-01

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

by Sara Petrillo, Nicola Pietrafusa, Marina Trivisano, Costanza Calabrese, Francesca Saura, Maria Giovanna Gallo, Enrico Silvio Bertini, Federico Vigevano, Nicola Specchio, Fiorella Piemonte
Published 2021-08-01

Autism and Epilepsy in Patients With Tuberous Sclerosis Complex

by Nicola Specchio, Nicola Specchio, Nicola Pietrafusa, Marina Trivisano, Romina Moavero, Romina Moavero, Luca De Palma, Alessandro Ferretti, Federico Vigevano, Federico Vigevano, Paolo Curatolo
Published 2020-08-01

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

by Nicola Specchio, Alessandro Ferretti, Nicola Pietrafusa, Marina Trivisano, Costanza Calabrese, Giusy Carfì Pavia, Alessandro De Benedictis, Carlo Efisio Marras, Luca de Palma, Federico Vigevano
Published 2020-06-01

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)

by Paul Gissen, Nicola Specchio, Andrew Olaye, Mohit Jain, Thomas Butt, Wrik Ghosh, Benjamin Ruban-Fell, Annabel Griffiths, Charlotte Camp, Zlatko Sisic, Christoph Schwering, Eva Wibbeler, Marina Trivisano, Laura Lee, Miriam Nickel, Amanda Mortensen, Angela Schulz
Published 2021-05-01

Epilepsy and <i>BRAF</i> Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations

by Domenica I. Battaglia, Maria Luigia Gambardella, Stefania Veltri, Ilaria Contaldo, Giovanni Chillemi, Chiara Veredice, Michela Quintiliani, Chiara Leoni, Roberta Onesimo, Tommaso Verdolotti, Francesca Clementina Radio, Diego Martinelli, Marina Trivisano, Nicola Specchio, Charlotte Dravet, Marco Tartaglia, Giuseppe Zampino
Published 2021-08-01

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

by Chiara Pepi, Luca de Palma, Marina Trivisano, Nicola Pietrafusa, Francesca Romana Lepri, Andrea Diociaiuti, Francesca Diomedi Camassei, Giusy Carfi-Pavia, Alessandro De Benedictis, Camilla Rossi-Espagnet, Federico Vigevano, Carlo Efisio Marras, Antonio Novelli, Ingmar Bluemcke, Nicola Specchio
Published 2021-06-01