Zobrazeno 1 - 10
of 404
pro vyhledávání: '"Paolo Tinuper"'
Autor:
Federica Pondrelli, Raffaella Minardi, Lorenzo Muccioli, Corrado Zenesini, Luca Vignatelli, Laura Licchetta, Barbara Mostacci, Paolo Tinuper, Craig W. Vander Kooi, Matthew S. Gentry, Francesca Bisulli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Lafora disease (LD) is a fatal form of progressive myoclonic epilepsy caused by biallelic pathogenic variants in EPM2A or NHLRC1. With a few exceptions, the influence of genetic factors on disease progression has yet to be confirm
Externí odkaz:
https://doaj.org/article/a141b74afcff49a9a4cd0c5090e3921e
Autor:
Simona Balestrini, Viola Doccini, Sabrina Giometto, Ersilia Lucenteforte, Salvatore De Masi, Elisa Giarola, Isabella Brambilla, Federica Pieroni, Marco Perulli, Domenica Battaglia, Nicola Specchio, Francesca Ragona, Tiziana Granata, Simona Pellacani, Annarita Ferrari, Carla Marini, Sara Matricardi, Elisabetta Cesaroni, Lucio Giordano, Patrizia Accorsi, Vittorio Sciruicchio, Paolo Tinuper, Tullio Messana, Angelo Russo, Dario Pruna, Margherita Nosadini, Valentina De Giorgis, Davide Caputo, Residras Collaboration Group, Serena Pellegrin, Tommaso Lo Barco, Francesca Darra, Bernardo Dalla Bernardina, Renzo Guerrini
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 517-534 (2023)
Abstract Objectives We describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to SCN1A mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools an
Externí odkaz:
https://doaj.org/article/b4967b84c41b483295572c1cca76ccff
Publikováno v:
Epilepsia Open, Vol 8, Iss 1, Pp 217-220 (2023)
Abstract We propose an instructive figure that summarized the classification of epilepsy syndromes according to the 2022 report of the ILAE Task Force on Nosology and Definitions. Our aim is to present on the same figure different concepts such as th
Externí odkaz:
https://doaj.org/article/12c686abbaf94ee09dd2851c8ae51c23
Autor:
Ilaria Cani, Federica Pondrelli, Laura Licchetta, Raffaella Minardi, Tania Giangregorio, Barbara Mostacci, Lorenzo Muccioli, Lidia Di Vito, Anna Fetta, Carmen Barba, Carlo Alberto Castioni, Andrea Bordugo, Paolo Tinuper, Francesca Bisulli
Publikováno v:
Epilepsia Open, Vol 7, Iss 4, Pp 810-816 (2022)
Abstract We describe a case of epileptic encephalopathy in a young woman with undiagnosed medium‐chain acyl‐coenzyme A dehydrogenase deficiency (MCADD), who presented with an early‐onset focal motor status epilepticus (SE) then followed by perm
Externí odkaz:
https://doaj.org/article/8248074ed17846328a2bed7e16e485d0
Autor:
Gionata Strigaro, Francesca Bisulli, Giovanni Assenza, Oriano Mecarelli, Antonello Grippo, Stefano Meletti, Lara Alvisi, Gaetano Cantalupo, Roberto Eleopra, Angelo Guerra, Silvia Lori, Lucio Marinelli, Laura Tassi, Paolo Tinuper, Federico Vigevano
Publikováno v:
Clinical Neurophysiology Practice, Vol 7, Iss , Pp 325-365 (2022)
Externí odkaz:
https://doaj.org/article/2ff17a5398584da8aadb928af83d1308
Autor:
Lorenzo Ferri, Roberto Mai, Lidia di Vito, Veronica Menghi, Matteo Martinoni, Piergiorgio D'Orio, Laura Licchetta, Lorenzo Muccioli, Carlotta Stipa, Paolo Tinuper, Francesca Bisulli
Publikováno v:
Epilepsy & Behavior Reports, Vol 21, Iss , Pp 100579- (2023)
Radiofrequency thermocoagulation (RF-TC) is a wide-used procedure for drug-resistant epilepsy. The technique is considered safe with an overall risk of 1.1% of permanent complications, mainly focal neurological deficits. We report the case of a patie
Externí odkaz:
https://doaj.org/article/e748297c5a43438f885b31aa548cb33e
Autor:
Paolo Bonanni, Antonio Gambardella, Paolo Tinuper, Benedetto Acone, Emilio Perucca, Giangennaro Coppola
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-8 (2021)
Abstract Background When use of a single antiseizure medication (ASM) fails to induce seizure remission, add-on therapy is justified. Perampanel (PER) is approved in Europe as adjunctive therapy for focal, focal to bilateral tonic-clonic seizures and
Externí odkaz:
https://doaj.org/article/2cbafb2bcfbf4f34aa4e7c5484de4c8f
Autor:
Federica Pondrelli, Lorenzo Muccioli, Laura Licchetta, Barbara Mostacci, Corrado Zenesini, Paolo Tinuper, Luca Vignatelli, Francesca Bisulli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Lafora disease (LD) is a rare fatal autosomal recessive form of progressive myoclonus epilepsy. It affects previously healthy children or adolescents, causing pharmacoresistant epilepsy, myoclonus and severe psychomotor deteriorat
Externí odkaz:
https://doaj.org/article/1fe00fdaf13e4f889d4fffa799322d8d
Autor:
Laura Licchetta, Lorenzo Ferri, Chiara La Morgia, Corrado Zenesini, Leonardo Caporali, Maria Lucia Valentino, Raffaella Minardi, Daniela Fulitano, Lidia Di Vito, Barbara Mostacci, Lara Alvisi, Patrizia Avoni, Rocco Liguori, Paolo Tinuper, Francesca Bisulli, Valerio Carelli
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 704-710 (2021)
Abstract The study aims to characterize the epilepsy phenotype of maternally inherited Leigh's syndrome (MILS) and neuropathy, ataxia, retinitis pigmentosa (NARP) due to mutations in the mitochondrial ATP6 gene and to correlate electroclinical featur
Externí odkaz:
https://doaj.org/article/e690895416d44998b922be907eb744e1
Autor:
Laura Tassi, Nicola Specchio, Oriano Mecarelli, Paolo Tinuper, Federico Vigevano, Emilio Perucca
Publikováno v:
Epilepsy & Behavior Reports, Vol 19, Iss , Pp 100553- (2022)
This article was prepared to outline the article collection submitted on behalf of Lega Italiana Contro l’Epilessia, or LICE, for the 50th anniversary of the founding of the ILAE Italian Chapter, and provides a brief summary of the history, with it
Externí odkaz:
https://doaj.org/article/aa5c1688493a4d9bbd102f098c9f2f61