Search

Your search keyword '"Tinuper, Paolo"' showing total 1,081 results
Start Over Author "Tinuper, Paolo"
1,081 results on '"Tinuper, Paolo"'

201. The landscape of epilepsy-related GATOR1 variants

Author

Genetica, Genetica Klinische Genetica, Genetica Oper. Mangt Genoom Diagnostiek, Brain, Child Health, ZL Kinder Ner en Nec Medisch, Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor E., Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, Nordli, Douglas R., Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S., Baulac, Stéphanie, Genetica, Genetica Klinische Genetica, Genetica Oper. Mangt Genoom Diagnostiek, Brain, Child Health, ZL Kinder Ner en Nec Medisch, Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor E., Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, Nordli, Douglas R., Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S., and Baulac, Stéphanie

Published
2019

202. Telephone-induced Seizures: A New Type of Reflex Epilepsy

Author

Michelucci, Roberto, Gardella, Elena, de Haan, Gerrit-Jan, Bisulli, Francesca, Zaniboni, Anna, Cantalupo, Gaetano, Alberto Tassinari, Carlo, Tinuper, Paolo, Nobile, Carlo, Nichelli, Paolo, and Kasteleijn-Nolst Trenité, Dorothée G. A.

Published
2004

204. Autosomal Dominant Lateral Temporal Epilepsy: Clinical Spectrum, New Epitempin Mutations, and Genetic Heterogeneity in Seven European Families

Author

Michelucci, Roberto, Poza, Juan Jose, Sofia, Vito, de Feo, Maria Rita, Binelli, Simona, Bisulli, Francesca, Scudellaro, Evan, Simionati, Barbara, Zimbello, Rosanna, dʼOrsi, Giuseppe, Passarelli, Daniela, Avoni, Patrizia, Avanzini, Giuliano, Tinuper, Paolo, Biondi, Roberto, Valle, Giorgio, Mautner, Victor F., Stephani, Ulrich, Tassinari, Carlo Alberto, Moschonas, Nicholas K., Siebert, Reiner, de Munain, Adolpho Lopez, Perez-Tur, Jordi, and Nobile, Carlo

Published
2003

206. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2Pathogenic Variants

Author

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, and Weber, Yvonne

Published
2022
Full Text
View/download PDF

207. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene

Author

Medori, Rossella, Tritschler, Hans-Juergen, LeBlanc, Andrea, Villare, Federico, Manetto, Valeria, Hsiao Ying Chen, Run Xue, Leal, Suzanne, Montagna, Pasquale, Cortelli, Pietro, Tinuper, Paolo, Avoni, Patrizia, Mochi, Mirelli, Baruzzi, Agostino, Hauw, Jean Jaques, Ott, Jurg, Lugaresi, Elio, Autilio-Gambetti, Lucila, and Gambetti, Pierluigi

Subjects
Nervous system diseases -- Genetic aspects, Familial diseases -- Causes of, Prions -- Health aspects
Abstract

Fatal familial insomnia, a genetic disease with neurological symptoms, is caused by an abnormal form of a protein called prion protein. Analysis of brain tissue from two related patients who died from fatal familial insomnia found prion protein. This protein was different from that found in brain tissue of three people who died from Creutzfeldt-Jakob disease, another prion-associated neurological disease. DNA analysis of the gene for prion protein in both patients found that the gene had a mutation at position 178 that resulted in a substitution of the amino acid asparagine for aspartic acid in the protein. A living family member who had the disease had the same mutation. Eleven of 29 relatives who were not affected by the disease also had the mutation.

Published
1992

209. Sleep-related hypermotor epilepsy: prevalence, impact and management strategies

Author

Menghi,Veronica, Bisulli,Francesca, Tinuper,Paolo, and Nobili,Lino

Subjects
Nature and Science of Sleep
Abstract

Veronica Menghi,1 Francesca Bisulli,2 Paolo Tinuper,2 Lino Nobili3,4 1Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; 2IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; 3“Claudio Munari” Center for Epilepsy Surgery, Niguarda Hospital, Milan, Italy; 4Department of Neuroscience (DINOGMI), IRCCS, Giannina Gaslini Institute, University of Genoa, Genoa, Italy Abstract: Sleep-related hypermotor epilepsy (SHE), previously called nocturnal frontal lobe epilepsy (NFLE), is a focal epilepsy characterized by asymmetric tonic/dystonic posturing and/or complex hyperkinetic seizures occurring mostly during sleep. SHE fulfills the definition of rare disease with an estimated minimum prevalence of 1.8/100,000 individuals, and it represents about 10% of drug-resistant surgical cases. Although SHE and autosomal-dominant SHE (ADSHE) have been considered benign epileptic conditions for a long time, emerging data have shed light on the severity of this disorder and some peculiar features can impact negatively on the quality of life of SHE patients. In fact, seizure frequency can be very high, resulting in nocturnal sleep fragmentation with possible diurnal consequences such as excessive sleepiness and fatigue. Moreover, recent studies, adopting a systematic neuropsychological assessment, have shown deficits in memory, executive functions and visuo-spatial abilities in almost half of SHE patients. Intellectual disabilities and psychiatric disorders have also been reported in some genetic forms. SHE may also exert a negative effect on health-related quality of life, especially in domains pertaining to a patient’s role in the family, social context and patient’s illness experience. Despite a good response to pharmacological treatment, especially with carbamazepine, 30% of SHE patients suffer from drug-resistant seizures. Finally, recent studies suggest a poor prognosis in a high percentage of SHE patients with a 20.4% cumulative probability of achieving terminal remission at 10 years from onset. For selected drug-resistant SHE patients, epilepsy surgery is the only treatment offering high probability of recovery, both for seizures and for epilepsy-related sleep alterations. Keywords: epilepsy, parasomnias, sleep-related hypermotor epilepsy, nocturnal frontal lobe epilepsy, epidemiology

Published
2018

210. Corrigendum to 'Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study' [Epilepsy Behav. Oct 2017; 75C:151-157](S1525505017304961)(10.1016/j.yebeh.2017.08.010)

Author

Barba, Carmen, Specchio, Nicola, Guerrini, Renzo, Tassi, Laura, DeMasi, Salvatore, Cardinale, Francesco, Pellacani, Simona, De Palma, Luca, Battaglia, Domenica, Tamburrini, Gianpiero, Didato, Giuseppe, Freri, Elena, Consales, Alessandro, Nozza, Paolo, Zamponi, Nelia, Cesaroni, Elisabetta, Di Gennaro, Giancarlo, Esposito, Vincenzo, Giulioni, Marco, Tinuper, Paolo, Colicchio, Gabriella, Rocchi, Raffaele, Rubboli, Guido, Giordano, Flavio, Russo, Giorgio Lo, Marras, Carlo Efisio, and Cossu, Massimo

Subjects
Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Epilepsy surgery, Children
Abstract

The authors regret to inform that one of the co-author “Simona Pellacani” is affiliated to IRCCS Stella Maris, Pisa, Italy The authors would like to apologize for any inconvenience caused.

Published
2018

212. Polysomnographic features differentiating disorder of arousals from sleep-related hypermotor epilepsy

Author

Proserpio, Paola, primary, Loddo, Giuseppe, additional, Zubler, Frederic, additional, Ferini-Strambi, Luigi, additional, Licchetta, Laura, additional, Bisulli, Francesca, additional, Tinuper, Paolo, additional, Agostoni, Elio Clemente, additional, Bassetti, Claudio, additional, Tassi, Laura, additional, Menghi, Veronica, additional, Provini, Federica, additional, and Nobili, Lino, additional

Published
2019
Full Text
View/download PDF

213. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Author

Feng, Yen-Chen Anne, primary, Howrigan, Daniel P., additional, Abbott, Liam E., additional, Tashman, Katherine, additional, Cerrato, Felecia, additional, Singh, Tarjinder, additional, Heyne, Henrike, additional, Byrnes, Andrea, additional, Churchhouse, Claire, additional, Watts, Nick, additional, Solomonson, Matthew, additional, Lal, Dennis, additional, Heinzen, Erin L., additional, Dhindsa, Ryan S., additional, Stanley, Kate E., additional, Cavalleri, Gianpiero L., additional, Hakonarson, Hakon, additional, Helbig, Ingo, additional, Krause, Roland, additional, May, Patrick, additional, Weckhuysen, Sarah, additional, Petrovski, Slavé, additional, Kamalakaran, Sitharthan, additional, Sisodiya, Sanjay M., additional, Cossette, Patrick, additional, Cotsapas, Chris, additional, De Jonghe, Peter, additional, Dixon-Salazar, Tracy, additional, Guerrini, Renzo, additional, Kwan, Patrick, additional, Marson, Anthony G., additional, Stewart, Randy, additional, Depondt, Chantal, additional, Dlugos, Dennis J., additional, Scheffer, Ingrid E., additional, Striano, Pasquale, additional, Freyer, Catharine, additional, McKenna, Kevin, additional, Regan, Brigid M., additional, Bellows, Susannah T., additional, Leu, Costin, additional, Bennett, Caitlin A., additional, Johns, Esther M.C., additional, Macdonald, Alexandra, additional, Shilling, Hannah, additional, Burgess, Rosemary, additional, Weckhuysen, Dorien, additional, Bahlo, Melanie, additional, O’Brien, Terence J., additional, Todaro, Marian, additional, Stamberger, Hannah, additional, Andrade, Danielle M., additional, Sadoway, Tara R., additional, Mo, Kelly, additional, Krestel, Heinz, additional, Gallati, Sabina, additional, Papacostas, Savvas S., additional, Kousiappa, Ioanna, additional, Tanteles, George A., additional, Štěrbová, Katalin, additional, Vlčková, Markéta, additional, Sedláčková, Lucie, additional, Laššuthová, Petra, additional, Klein, Karl Martin, additional, Rosenow, Felix, additional, Reif, Philipp S., additional, Knake, Susanne, additional, Kunz, Wolfram S., additional, Zsurka, Gábor, additional, Elger, Christian E., additional, Bauer, Jürgen, additional, Rademacher, Michael, additional, Pendziwiat, Manuela, additional, Muhle, Hiltrud, additional, Rademacher, Annika, additional, van Baalen, Andreas, additional, von Spiczak, Sarah, additional, Stephani, Ulrich, additional, Afawi, Zaid, additional, Korczyn, Amos D., additional, Kanaan, Moien, additional, Canavati, Christina, additional, Kurlemann, Gerhard, additional, Müller-Schlüter, Karen, additional, Kluger, Gerhard, additional, Häusler, Martin, additional, Blatt, Ilan, additional, Lemke, Johannes R., additional, Krey, Ilona, additional, Weber, Yvonne G., additional, Wolking, Stefan, additional, Becker, Felicitas, additional, Hengsbach, Christian, additional, Rau, Sarah, additional, Maisch, Ana F., additional, Steinhoff, Bernhard J., additional, Schulze-Bonhage, Andreas, additional, Schubert-Bast, Susanne, additional, Schreiber, Herbert, additional, Borggräfe, Ingo, additional, Schankin, Christoph J., additional, Mayer, Thomas, additional, Korinthenberg, Rudolf, additional, Brockmann, Knut, additional, Dennig, Dieter, additional, Madeleyn, Rene, additional, Kälviäinen, Reetta, additional, Auvinen, Pia, additional, Saarela, Anni, additional, Linnankivi, Tarja, additional, Lehesjoki, Anna-Elina, additional, Rees, Mark I., additional, Chung, Seo-Kyung, additional, Pickrell, William O., additional, Powell, Robert, additional, Schneider, Natascha, additional, Balestrini, Simona, additional, Zagaglia, Sara, additional, Braatz, Vera, additional, Johnson, Michael R., additional, Auce, Pauls, additional, Sills, Graeme J., additional, Baum, Larry W., additional, Sham, Pak C., additional, Cherny, Stacey S., additional, Lui, Colin H.T., additional, Barišić, Nina, additional, Delanty, Norman, additional, Doherty, Colin P., additional, Shukralla, Arif, additional, McCormack, Mark, additional, El-Naggar, Hany, additional, Canafoglia, Laura, additional, Franceschetti, Silvana, additional, Castellotti, Barbara, additional, Granata, Tiziana, additional, Zara, Federico, additional, Iacomino, Michele, additional, Madia, Francesca, additional, Vari, Maria Stella, additional, Mancardi, Maria Margherita, additional, Salpietro, Vincenzo, additional, Bisulli, Francesca, additional, Tinuper, Paolo, additional, Licchetta, Laura, additional, Pippucci, Tommaso, additional, Stipa, Carlotta, additional, Minardi, Raffaella, additional, Gambardella, Antonio, additional, Labate, Angelo, additional, Annesi, Grazia, additional, Manna, Lorella, additional, Gagliardi, Monica, additional, Parrini, Elena, additional, Mei, Davide, additional, Vetro, Annalisa, additional, Bianchini, Claudia, additional, Montomoli, Martino, additional, Doccini, Viola, additional, Marini, Carla, additional, Suzuki, Toshimitsu, additional, Inoue, Yushi, additional, Yamakawa, Kazuhiro, additional, Tumiene, Birute, additional, Sadleir, Lynette G., additional, King, Chontelle, additional, Mountier, Emily, additional, Caglayan, S. Hande, additional, Arslan, Mutluay, additional, Yapıcı, Zuhal, additional, Yis, Uluc, additional, Topaloglu, Pınar, additional, Kara, Bulent, additional, Turkdogan, Dilsad, additional, Gundogdu-Eken, Aslı, additional, Bebek, Nerses, additional, Uğur-İşeri, Sibel, additional, Baykan, Betül, additional, Salman, Barış, additional, Haryanyan, Garen, additional, Yücesan, Emrah, additional, Kesim, Yeşim, additional, Özkara, Çiğdem, additional, Poduri, Annapurna, additional, Shiedley, Beth R., additional, Shain, Catherine, additional, Buono, Russell J., additional, Ferraro, Thomas N., additional, Sperling, Michael R., additional, Lo, Warren, additional, Privitera, Michael, additional, French, Jacqueline A., additional, Schachter, Steven, additional, Kuzniecky, Ruben I., additional, Devinsky, Orrin, additional, Hegde, Manu, additional, Khankhanian, Pouya, additional, Helbig, Katherine L., additional, Ellis, Colin A., additional, Spalletta, Gianfranco, additional, Piras, Fabrizio, additional, Piras, Federica, additional, Gili, Tommaso, additional, Ciullo, Valentina, additional, Reif, Andreas, additional, McQuillin, Andrew, additional, Bass, Nick, additional, McIntosh, Andrew, additional, Blackwood, Douglas, additional, Johnstone, Mandy, additional, Palotie, Aarno, additional, Pato, Michele T., additional, Pato, Carlos N., additional, Bromet, Evelyn J., additional, Carvalho, Celia Barreto, additional, Achtyes, Eric D., additional, Azevedo, Maria Helena, additional, Kotov, Roman, additional, Lehrer, Douglas S., additional, Malaspina, Dolores, additional, Marder, Stephen R., additional, Medeiros, Helena, additional, Morley, Christopher P., additional, Perkins, Diana O., additional, Sobell, Janet L., additional, Buckley, Peter F., additional, Macciardi, Fabio, additional, Rapaport, Mark H., additional, Knowles, James A., additional, Fanous, Ayman H., additional, McCarroll, Steven A., additional, Gupta, Namrata, additional, Gabriel, Stacey B., additional, Daly, Mark J., additional, Lander, Eric S., additional, Lowenstein, Daniel H., additional, Goldstein, David B., additional, Lerche, Holger, additional, Berkovic, Samuel F., additional, and Neale, Benjamin M., additional

Published
2019
Full Text
View/download PDF

214. L-Dopa Modulation of Brain Connectivity in Parkinson’s Disease Patients: A Pilot EEG-fMRI Study

Author

Evangelisti, Stefania, primary, Pittau, Francesca, additional, Testa, Claudia, additional, Rizzo, Giovanni, additional, Gramegna, Laura Ludovica, additional, Ferri, Lorenzo, additional, Coito, Ana, additional, Cortelli, Pietro, additional, Calandra-Buonaura, Giovanna, additional, Bisquoli, Fabio, additional, Bianchini, Claudio, additional, Manners, David Neil, additional, Talozzi, Lia, additional, Tonon, Caterina, additional, Lodi, Raffaele, additional, and Tinuper, Paolo, additional

Published
2019
Full Text
View/download PDF

216. SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus

Author

Bisulli, Francesca, primary, Licchetta, Laura, additional, Baldassari, Sara, additional, Muccioli, Lorenzo, additional, Marconi, Caterina, additional, Cantalupo, Gaetano, additional, Myers, Candace, additional, Menghi, Veronica, additional, Minardi, Raffaella, additional, Caporali, Leonardo, additional, Marini, Carla, additional, Guerrini, Renzo, additional, Mefford, Heather C., additional, Tinuper, Paolo, additional, and Pippucci, Tommaso, additional

Published
2019
Full Text
View/download PDF

217. Clinical features of sleep‐related hypermotor epilepsy in relation to the seizure‐onset zone: A review of 135 surgically treated cases

Author

Gibbs, Steve A., primary, Proserpio, Paola, additional, Francione, Stefano, additional, Mai, Roberto, additional, Cardinale, Francesco, additional, Sartori, Ivana, additional, Castana, Laura, additional, Plazzi, Giuseppe, additional, Tinuper, Paolo, additional, Cossu, Massimo, additional, Russo, Giorgio Lo, additional, Tassi, Laura, additional, and Nobili, Lino, additional

Published
2019
Full Text
View/download PDF

224. INTRODUCTION

Author

Tinuper, Paolo, Cerullo, Angelina, Rosati, Anna, and Cortelli, Pietro

Published
1997

226. Withdrawal of valproic acid treatment during pregnancy and seizure outcome: Observations from EURAP

Author

Tomson, Torbjörn, Battino, Dina, Bonizzoni, Erminio, Craig, John, Lindhout, Dick, Perucca, Emilio, Sabers, Anne, Thomas, Sanjeev V, Vajda, Frank, for the EURAP Study Group, Bisulli, Francesca, Tinuper, Paolo, Tomson, Torbjörn, Battino, Dina, Bonizzoni, Erminio, Craig, John, Lindhout, Dick, Perucca, Emilio, Sabers, Anne, Thomas, Sanjeev V, Vajda, Frank, for the EURAP Study Group, Bisulli, Francesca, and Tinuper, Paolo

Subjects
Adult, Pediatrics, medicine.medical_specialty, Adolescent, International Cooperation, Status epilepticus, Cohort Studies, Status Epilepticu, 03 medical and health sciences, Epilepsy, Young Adult, Status Epilepticus, 0302 clinical medicine, Pregnancy, medicine, Anticonvulsant, Humans, 030212 general & internal medicine, Registries, Young adult, Pregnancy Trimesters, Valproic Acid, business.industry, Bayes Theorem, medicine.disease, Seizure, Pregnancy Complication, Substance Withdrawal Syndrome, Pregnancy Complications, Observational Studies as Topic, Neurology, Anesthesia, Anticonvulsants, Observational study, Female, Neurology (clinical), Pregnancy Trimester, medicine.symptom, Cohort Studie, business, 030217 neurology & neurosurgery, medicine.drug, Cohort study, Human
Abstract

Based on data from the EURAP observational International registry of antiepileptic drugs (AEDs) and pregnancy, we assessed changes in seizure control and subsequent AED changes in women who underwent attempts to withdraw valproic acid (VPA) during the first trimester of pregnancy. Applying Bayesian statistics, we compared seizure control in pregnancies where VPA was withdrawn (withdrawal group, n = 93), switched to another AED (switch group, n = 38), or maintained (maintained-therapy group, n = 1,588) during the first trimester. The probability of primarily or secondarily generalized tonic-clonic seizures (GTCS) was lower in the maintained-therapy group compared with the other two groups, both in the first trimester and for the entire duration of pregnancy. GTCS were twice as common during pregnancy in the withdrawal (33%) and switch groups (29%) compared with the maintained-treatment group (16%). Limitations in the data and study design do not allow to establish a cause-effect relationship between treatment changes and seizure outcome, but these observations provide a signal that withdrawal of, or switch from, VPA during the first trimester could lead to loss of seizure control, and highlight the need for a specifically designed prospective observational study.

Published
2016

227. Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Author

Berkovic, Samuel F, Staropoli, John F., Carpenter, Stirling, Oliver, Karen L., Kmoch, Stanislav, Anderson, Glenn W., Damiano, John A., Hildebrand, Michael S., Sims, Katherine B., Cotman, Susan L., Bahlo, Melanie, Smith, Katherine R., Cadieux Dion, Maxime, Cossette, Patrick, Jedličková, Ivana, Přistoupilová, Anna, Mole, Sara E. ANCL Gene Discovery Consortium […, BISULLI, FRANCESCA, LICCHETTA, LAURA, TINUPER, PAOLO, Berkovic, Samuel F, Staropoli, John F., Carpenter, Stirling, Oliver, Karen L., Kmoch, Stanislav, Anderson, Glenn W., Damiano, John A., Hildebrand, Michael S., Sims, Katherine B., Cotman, Susan L., Bahlo, Melanie, Smith, Katherine R., Cadieux Dion, Maxime, Cossette, Patrick, Jedličková, Ivana, Přistoupilová, Anna, Mole, Sara E. ANCL Gene Discovery Consortium […, Bisulli, Francesca, Licchetta, Laura, Tinuper, Paolo, ], . ., and Center for Liver, Digestive and Metabolic Diseases (CLDM)

Subjects
Adult, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Pathology, Adolescent, Neurodegeneration with brain iron accumulation, DNAJC5, PHENOTYPES, Disease, Article, Lipofuscin, Adult neuronal ceroid lipofuscinosis, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Humans, Medicine, Age of Onset, Diagnostic Errors, Medical diagnosis, Kufs disease, JUVENILE, EPILEPSY, Neurons, SPECTRUM, business.industry, MUTATIONS, Medicine (all), NCL, CLN6, medicine.disease, DOMINANT INHERITANCE, DEFICIENCY, 030104 developmental biology, Neurology (clinical), Alzheimer's disease, Age of onset, business, 030217 neurology & neurosurgery
Abstract

Objective: To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopathologic diagnosis as a route to further gene discovery.Methods: Through establishment of an international consortium we pooled 47 unsolved cases regarded by referring centers as ANCL. Clinical and neuropathologic experts within the Consortium established diagnostic criteria for ANCL based on the literature to assess each case. A panel of 3 neuropathologists independently reviewed source pathologic data. Cases were given a final clinicopathologic classification of definite ANCL, probable ANCL, possible ANCL, or not ANCL.Results: Of the 47 cases, only 16 fulfilled the Consortium's criteria of ANCL (5 definite, 2 probable, 9 possible). Definitive alternate diagnoses were made in 10, including Huntington disease, early-onset Alzheimer disease, Niemann-Pick disease, neuroserpinopathy, prion disease, and neurodegeneration with brain iron accumulation. Six cases had features suggesting an alternate diagnosis, but no specific condition was identified; in 15, the data were inadequate for classification. Misinterpretation of normal lipofuscin as abnormal storage material was the commonest cause of misdiagnosis.Conclusions: Diagnosis of ANCL remains challenging; expert pathologic analysis and recent molecular genetic advances revealed misdiagnoses in >1/3 of cases. We now have a refined group of cases that will facilitate identification of new causative genes.

Published
2016

230. Dose-dependent teratogenicity of valproate in mono- and polytherapy: an observational study

Author

Tomson, Torbjörn, Battino, Dina, Bonizzoni, Erminio, Craig, John, Lindhout, Dick, Perucca, Emilio, Sabers, Anne, Thomas, Sanjeev V, Vajda, Frank, for the EURAP Study Group, Bisulli, Francesca, Tinuper, Paolo, Tomson, Torbjörn, Battino, Dina, Bonizzoni, Erminio, Craig, John, Lindhout, Dick, Perucca, Emilio, Sabers, Anne, Thomas, Sanjeev V, Vajda, Frank, for the EURAP Study Group, Bisulli, Francesca, and Tinuper, Paolo

Subjects
Registrie, Adult, Male, Adolescent, Pharmacology, Lamotrigine, Follow-Up Studie, Epilepsy, Young Adult, Pharmacotherapy, Pregnancy, Anticonvulsant, medicine, Humans, Prospective Studies, Registries, Prospective cohort study, Medicine(all), Valproic Acid, Dose-Response Relationship, Drug, business.industry, Triazines, Infant, Newborn, Abnormalities, Drug-Induced, Middle Aged, medicine.disease, Pregnancy Complication, Pregnancy Complications, Prospective Studie, Dose–response relationship, Triazine, Concomitant, Teratogenesis, lipids (amino acids, peptides, and proteins), Anticonvulsants, Drug Therapy, Combination, Female, Neurology (clinical), business, Human, medicine.drug, Follow-Up Studies
Abstract

To assess the risk of major congenital malformations (MCMs) in association with maternal use of valproic acid (VPA) in monotherapy or adjunctive therapy, and its relationship with dose.The analysis was based on prospectively acquired data from EURAP, a registry enrolling women treated with antiepileptic drugs (AEDs) in early pregnancy, in which the primary outcome is presence of MCMs at 1 year after birth. Exposure was defined as type and dose of AEDs at time of conception. A comparison was made among 3 exposure types: (1) VPA monotherapy (n = 1,224); (2) VPA combined with lamotrigine (LTG) (n = 159); and (3) VPA combined with another AED but not LTG (n = 205).The frequency of MCMs at 1 year after birth was 10.0% for VPA monotherapy, 11.3% for exposures to VPA and LTG, and 11.7% for exposures to VPA + another (non-LTG) AED. Regardless of exposure group, the frequency of MCMs increased with dose of VPA, being highest at doses ≥1,500 mg/d (24.0% for monotherapy, 31.0% for VPA + LTG, and 19.2% for VPA + other AEDs), and was similar across treatment groups at the lowest VPA dose level of700 mg/d (5.9% for monotherapy, 7.0% for VPA + LTG, and 5.4% for VPA + other AEDs).The risk of MCMs associated with VPA exposure increases with increasing VPA dose, both in the presence and in the absence of one concomitant AED, and appears to be related primarily to the dose of VPA.

Published
2015

231. Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes.

Author

Dimartino, Paola, Mariani, Valeria, Marconi, Caterina, Minardi, Raffaella, Bramerio, Manuela, Licchetta, Laura, Menghi, Veronica, Morandi, Luca, Magini, Pamela, Mongelli, Patrizia, Cardinale, Francesco, Seri, Marco, Tinuper, Paolo, Tassi, Laura, Pippucci, Tommaso, and Bisulli, Francesca

Subjects
MOLECULAR probes, SOMATIC mutation, DYSPLASIA, CELL-free DNA, NUCLEOTIDE sequence, ALKANES
Abstract

Background: Formalin-fixed, paraffin-embedded brain specimens are a potentially rich resource to identify somatic variants, but their DNA is characterised by low yield and extensive degradation, and matched peripheral samples are usually unavailable for analysis. Methods: We designed single-molecule molecular inversion probes to target 18 MTOR somatic mutational hot-spots in unmatched, histologically proven focal cortical dysplasias from formalin-fixed, paraffin-embedded tissues of 50 patients. Results: We achieved adequate DNA and sequencing quality in 28 focal cortical dysplasias, mostly extracted within 2 years from fixation, showing a statistically significant effect of time from fixation as a major determinant for successful genetic analysis. We identified and validated seven encompassing hot-spot residues (found in 14% of all patients and in 25% of those sequenced and analysed). The allele fraction had a range of 2–5% and variants were absent in available neighbouring non-focal cortical dysplasia specimens. We computed an alternate allele threshold for calling true variants, based on an experiment-wise mismatch count distribution, well predicting call reliability. Conclusions: Single-molecule molecular inversion probes are experimentally simple, cost effective and scalable, accurately detecting clinically relevant somatic variants in challenging brain formalin-fixed, paraffin-embedded tissues. [ABSTRACT FROM AUTHOR]

Published
2020
Full Text
View/download PDF

233. FDG-PET assessment and metabolic patterns in Lafora disease.

Author

Muccioli, Lorenzo, Farolfi, Andrea, Pondrelli, Federica, d'Orsi, Giuseppe, Michelucci, Roberto, Freri, Elena, Canafoglia, Laura, Licchetta, Laura, Toni, Francesco, Bonfiglioli, Rachele, Civollani, Simona, Pettinato, Cinzia, Maietti, Elisa, Marotta, Giorgio, Fanti, Stefano, Tinuper, Paolo, and Bisulli, Francesca

Subjects
POSITRON emission tomography, BILEVEL programming, BASE pairs, GLUCOSE metabolism, FRONTAL lobe, PARIETAL lobe, DISEASE progression
Abstract

Purpose: To describe cerebral glucose metabolism pattern as assessed by 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) in Lafora disease (LD), a rare, lethal form of progressive myoclonus epilepsy caused by biallelic mutations in EPM2A or NHLRC1. Methods: We retrospectively included patients with genetically confirmed LD who underwent FDG-PET scan referred to three Italian epilepsy centers. FDG-PET images were evaluated both visually and using SPM12 software. Subgroup analysis was performed on the basis of genetic and clinical features employing SPM. Moreover, we performed a systematic literature review of LD cases that underwent FDG-PET assessment. Results: Eight Italian patients (3M/5F, 3 EPM2A/5 NHLRC1) underwent FDG-PET examination after a mean of 6 years from disease onset (range 1–12 years). All patients showed bilateral hypometabolic areas, more diffuse and pronounced in advanced disease stages. Most frequently, the hypometabolic regions were the temporal (8/8), parietal (7/8), and frontal lobes (7/8), as well as the thalamus (6/8). In three cases, the FDG-PET repeated after a mean of 17 months (range 7–36 months) showed a metabolic worsening compared with the baseline examination. The SPM subgroup analysis found no significant differences based on genetics, whereas it showed a more significant temporoparietal hypometabolism in patients with visual symptoms compared with those without. In nine additional cases identified from eight publications, FDG-PET showed heterogeneous findings, ranging from diffusely decreased cerebral glucose metabolism to unremarkable examinations in two cases. Conclusions: FDG-PET seems highly sensitive to evaluate LD at any stage and may correlate with disease progression. Areas of decreased glucose metabolism in LD are extensive, often involving multiple cortical and subcortical regions, with thalamus, temporal, frontal, and parietal lobes being the most severely affected. Prospective longitudinal collaborative studies are needed to validate our findings. [ABSTRACT FROM AUTHOR]

Published
2020
Full Text
View/download PDF

234. Therapy in Sleep-Related Hypermotor Epilepsy (SHE).

Author

Asioli, Gian Maria, Rossi, Simone, Bisulli, Francesca, Licchetta, Laura, Tinuper, Paolo, and Provini, Federica

Abstract

Purpose of review: The purpose of this review is to summarize and discuss current options and new advances in the treatment of sleep-related hypermotor epilepsy (SHE), focusing on pharmacological and surgical treatments. Recent findings: Carbamazepine (CBZ) has traditionally been regarded as the first-line treatment option in SHE patients. In patients showing an unsatisfactory response to monotherapy, topiramate (TPM), lacosamide (LCM) and acetazolamide (ACZ) could be reasonable add-on strategies. The increasing understanding of the role of neuronal nicotinic acetylcholine receptor (nAChR) in SHE pathophysiology has led to the evaluation of compounds able to modulate this receptor system, including nicotine patches and fenofibrate. Despite polytherapy with two or more antiepileptic drugs (AEDs), about one-third of SHE patients suffer from drug-resistant seizures. In selected drug-resistant patients, epilepsy surgery is a therapeutic approach that offers high probability of recovery, with up to two-third of patients becoming seizure-free after resection of the epileptogenic zone. Summary: An evidence-based approach from randomized placebo-controlled trials in SHE patients is lacking, and current treatment recommendations are based only on case reports and small series. Furthermore, most of these case reports and case series involve patients with a known genetic defect, which only accounts for a small proportion of SHE patients. Therefore, a prospective study in a large cohort of sporadic SHE patients is necessary in order to provide clinicians with an evidence-based treatment for this rare form of epilepsy. An early and effective anti-epileptic treatment is mandatory for SHE patients, in order to prevent the risk of increasing seizure frequency throughout the disease course with relevant impact on patients' cognitive profile and daytime performances. [ABSTRACT FROM AUTHOR]

Published
2020
Full Text
View/download PDF

235. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Author

May, Patrick, primary, Girard, Simon, additional, Harrer, Merle, additional, Bobbili, Dheeraj R, additional, Schubert, Julian, additional, Wolking, Stefan, additional, Becker, Felicitas, additional, Lachance-Touchette, Pamela, additional, Meloche, Caroline, additional, Gravel, Micheline, additional, Niturad, Cristina E, additional, Knaus, Julia, additional, De Kovel, Carolien, additional, Toliat, Mohamad, additional, Polvi, Anne, additional, Iacomino, Michele, additional, Guerrero-López, Rosa, additional, Baulac, Stéphanie, additional, Marini, Carla, additional, Thiele, Holger, additional, Altmüller, Janine, additional, Jabbari, Kamel, additional, Ruppert, Ann-Kathrin, additional, Jurkowski, Wiktor, additional, Lal, Dennis, additional, Rusconi, Raffaella, additional, Cestèle, Sandrine, additional, Terragni, Benedetta, additional, Coombs, Ian D, additional, Reid, Christopher A, additional, Striano, Pasquale, additional, Caglayan, Hande, additional, Siren, Auli, additional, Everett, Kate, additional, Møller, Rikke S, additional, Hjalgrim, Helle, additional, Muhle, Hiltrud, additional, Helbig, Ingo, additional, Kunz, Wolfram S, additional, Weber, Yvonne G, additional, Weckhuysen, Sarah, additional, Jonghe, Peter De, additional, Sisodiya, Sanjay M, additional, Nabbout, Rima, additional, Franceschetti, Silvana, additional, Coppola, Antonietta, additional, Vari, Maria S, additional, Kasteleijn-Nolst Trenité, Dorothée, additional, Baykan, Betul, additional, Ozbek, Ugur, additional, Bebek, Nerses, additional, Klein, Karl M, additional, Rosenow, Felix, additional, Nguyen, Dang K, additional, Dubeau, François, additional, Carmant, Lionel, additional, Lortie, Anne, additional, Desbiens, Richard, additional, Clément, Jean-François, additional, Cieuta-Walti, Cécile, additional, Sills, Graeme J, additional, Auce, Pauls, additional, Francis, Ben, additional, Johnson, Michael R, additional, Marson, Anthony G, additional, Berghuis, Bianca, additional, Sander, Josemir W, additional, Avbersek, Andreja, additional, McCormack, Mark, additional, Cavalleri, Gianpiero L, additional, Delanty, Norman, additional, Depondt, Chantal, additional, Krenn, Martin, additional, Zimprich, Fritz, additional, Peter, Sarah, additional, Nikanorova, Marina, additional, Kraaij, Robert, additional, van Rooij, Jeroen, additional, Balling, Rudi, additional, Ikram, M Arfan, additional, Uitterlinden, André G, additional, Avanzini, Giuliano, additional, Schorge, Stephanie, additional, Petrou, Steven, additional, Mantegazza, Massimo, additional, Sander, Thomas, additional, LeGuern, Eric, additional, Serratosa, Jose M, additional, Koeleman, Bobby P C, additional, Palotie, Aarno, additional, Lehesjoki, Anna-Elina, additional, Nothnagel, Michael, additional, Nürnberg, Peter, additional, Maljevic, Snezana, additional, Zara, Federico, additional, Cossette, Patrick, additional, Krause, Roland, additional, Lerche, Holger, additional, May, Patrick, additional, De Jonghe, Peter, additional, Arfan Ikram, M, additional, Ferlazzo, Edoardo, additional, di Bonaventura, Carlo, additional, La Neve, Angela, additional, Tinuper, Paolo, additional, Bisulli, Francesca, additional, Vignoli, Aglaia, additional, Capovilla, Giuseppe, additional, Crichiutti, Giovanni, additional, Gambardella, Antonio, additional, Belcastro, Vincenzo, additional, Bianchi, Amedeo, additional, Yalçın, Destina, additional, Dizdarer, Gulsen, additional, Arslan, Kezban, additional, Yapıcı, Zuhal, additional, Kuşcu, Demet, additional, Leu, Costin, additional, Heggeli, Kristin, additional, Willis, Joseph, additional, Langley, Sarah R, additional, Jorgensen, Andrea, additional, Srivastava, Prashant, additional, Rau, Sarah, additional, Hengsbach, Christian, additional, and Sonsma, Anja C.M., additional

Published
2018
Full Text
View/download PDF

237. Emilia-Romagna Study on Pregnancy and Exposure to Antiepileptic drugs (ESPEA): a population-based study on prescription patterns, pregnancy outcomes and fetal health

Author

Mostacci, Barbara, primary, Bisulli, Francesca, additional, Poluzzi, Elisabetta, additional, Cocchi, Guido, additional, Piccinni, Carlo, additional, Curti, Alessandra, additional, Simonazzi, Giuliana, additional, Astolfi, Gianni, additional, Rizzo, Nicola, additional, Zenesini, Corrado, additional, D’Alessandro, Roberto, additional, and Tinuper, Paolo, additional

Published
2018
Full Text
View/download PDF

238. Corrigendum to “Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study” [Epilepsy Behav. Oct 2017; 75C:151-157]

Author

Barba, Carmen, primary, Specchio, Nicola, additional, Guerrini, Renzo, additional, Tassi, Laura, additional, DeMasi, Salvatore, additional, Cardinale, Francesco, additional, Pellacani, Simona, additional, De Palma, Luca, additional, Battaglia, Domenica, additional, Tamburrini, Gianpiero, additional, Didato, Giuseppe, additional, Freri, Elena, additional, Consales, Alessandro, additional, Nozza, Paolo, additional, Zamponi, Nelia, additional, Cesaroni, Elisabetta, additional, Di Gennaro, Giancarlo, additional, Esposito, Vincenzo, additional, Giulioni, Marco, additional, Tinuper, Paolo, additional, Colicchio, Gabriella, additional, Rocchi, Raffaele, additional, Rubboli, Guido, additional, Giordano, Flavio, additional, Russo, Giorgio Lo, additional, Marras, Carlo Efisio, additional, and Cossu, Massimo, additional

Published
2018
Full Text
View/download PDF

239. Epilepsy with auditory features: Long-term outcome and predictors of terminal remission

Author

Bisulli, Francesca, primary, Menghi, Veronica, additional, Vignatelli, Luca, additional, Licchetta, Laura, additional, Zenesini, Corrado, additional, Stipa, Carlotta, additional, Morigi, Francesca, additional, Gizzi, Matteo, additional, Avoni, Patrizia, additional, Provini, Federica, additional, Mostacci, Barbara, additional, d'Orsi, Giuseppe, additional, Pippucci, Tommaso, additional, Muccioli, Lorenzo, additional, and Tinuper, Paolo, additional

Published
2018
Full Text
View/download PDF

242. Brain functional connectivity in sleep-related hypermotor epilepsy

Author

Evangelisti, Stefania, primary, Testa, Claudia, additional, Ferri, Lorenzo, additional, Gramegna, Laura Ludovica, additional, Manners, David Neil, additional, Rizzo, Giovanni, additional, Remondini, Daniel, additional, Castellani, Gastone, additional, Naldi, Ilaria, additional, Bisulli, Francesca, additional, Tonon, Caterina, additional, Tinuper, Paolo, additional, and Lodi, Raffaele, additional

Published
2018
Full Text
View/download PDF

243. Corrigendum to “Advanced morphological neuroimaging study in lateral temporal lobe epilepsy: A multicentric study” [Epilepsy Behav 74 (2017) Pages 69–72]

Author

Vasta, Roberta, primary, Sarica, Alessia, additional, Bisulli, Francesca, additional, Di Gennaro, Giancarlo, additional, D'Aniello, Alfredo, additional, Difrancesco, Jacopo C., additional, Canafoglia, Laura, additional, Casazza, Marina, additional, Franceschetti, Silvana, additional, Stipa, Carlotta, additional, Tinuper, Paolo, additional, Mumoli, Laura, additional, Gambardella, Antonio, additional, and Labate, Angelo, additional

Published
2017
Full Text
View/download PDF

244. Successful removal and reimplant of vagal nerve stimulator device after 10 years

Author

Giulioni, Marco, Martinoni, Matteo, Naldi, Ilaria, Bisulli, Francesca, Pozzati, Eugenio, and Tinuper, Paolo

Subjects
Nervous system -- Surgery, Neural stimulation -- Health aspects, Epilepsy -- Care and treatment -- Case studies, Health
Abstract

Byline: Marco. Giulioni, Matteo. Martinoni, Ilaria. Naldi, Francesca. Bisulli, Eugenio. Pozzati, Paolo. Tinuper The number of implanted vagal nerve stimulators is growing and the need for removal or revision of [...]

Published
2012

245. Health Technology Assessment report on the presurgical evaluation and surgical treatment of drug-resistant epilepsy

Author

C. E. Marras, M. P. Canevini, G. Colicchio, R. Guerrini, G. Rubboli, M. Scerrati, R. Spreafico, L. Tassi, G. LoRusso, C. o. Epilepsy, TINUPER, PAOLO, C. E. Marra, M. P. Canevini, G. Colicchio, R. Guerrini, G. Rubboli, M. Scerrati, R. Spreafico, L. Tassi, G. LoRusso, P. Tinuper, and C. o. Epilepsy

Subjects
Research Report, medicine.medical_specialty, Technology Assessment, Biomedical, economics/standards, Epilepsy, Biomedical, Biomedical Technology, Disease, Epilepsy, Quality of life (healthcare), Preoperative Care, Health care, Anticonvulsant, Humans, Multicenter Studies as Topic, Medicine, economics/therapeutic use, Biomedical Technology, Epilepsy surgery, Stage (cooking), Intensive care medicine, economics/standards, Treatment Outcome, business.industry, economics/surgery, Humans, Multicenter Studies as Topic, economics/standards, Preoperative Care, Health technology, economics/standards, Research Report, medicine.disease, Drug Resistant Epilepsy, Treatment Outcome, Neurology, Physical therapy, Anticonvulsants, Neurology (clinical), business, standards, Technology Assessment
Abstract

Summary Purpose Epilepsy is a neurologic disorder with major social impact. Surgery is a valuable option in patients who are not responding to antiepileptic drugs. The literature reports demonstrate that a proportion ranging from 40 to 100% of patients with epilepsy achieve seizure remission after surgery. A presurgical evaluation (clinical and instrumental) must be performed in all patients with drug-resistant epilepsy to assess their suitability for surgical intervention. Health Technology Assessment (HTA) represents a modern approach to the analysis of technologies used for health care. HTA could be considered a bridge between science that produces evidence and the decisions that can be taken on the basis of that evidence at different levels of the health care system. The aim of this study is the HTA of epilepsy surgery including clinical, ethical, social, and economic features. Methods The present study includes an analysis of the diagnostic and surgical workup performed at the Italian centers for the diagnosis and treatment of drug-resistant epilepsy (DRE). The study includes the following issues: (1) social, ethical impact, and costs of the disease; (2) clinical results, efficacy, and safety of surgery; (3) ethics and quality of life after surgery; and (4) economic impact and productivity regained after surgery. The cost of managing a patient with DRE included in the presurgical study was estimated by the bottom-up microcosting technique that starts from a detailed collection of data on consumption of resources and full costing. The phases analyzed were (1) noninvasive diagnostic workup; (2) neurosurgical intervention; and (3) follow-up. Key Findings The literature reports indicate epilepsy surgery as an effective treatment both on clinical results and on ethical, social, and quality of life aspects. The workup including the noninvasive presurgical study followed by surgery has a total cost of €20,827. Management of short-term follow-up increases the overhead to €22,291 at the first year, and then to €23,571 after 5 years. According to the estimates made in this survey, funding based on diagnosis-related group (DRG) tariff for the noninvasive diagnostic stage involving hospital admission is not remunerative in Italy either at regional or national levels. Effectively the difference between full cost and DRG has a delta of €3,402 and €2,537 respectively. The total cost of the presurgical, surgical, and follow-up evaluation is not remunerative for €10,554 (national data). Significance Economic surveys in Italy have shown that surgery for DRE is an advantageous treatment from the standpoint of third-party payers and is cost-effective for society. DRE presurgical evaluation and surgery are not remunerative either at regional or national levels.

Published
2013

246. In-Depth Clinical, Genetic and Neuropsychological Study of Familial and Sporadic Cases with Sleep-Related Hypermotor Epilepsy (SHE): Identification of New Genes by Whole Exome Sequencing (WES)

Author

Tinuper, Paolo, Licchetta, Laura <1981>, Tinuper, Paolo, and Licchetta, Laura <1981>

Abstract

Sleep-related Hypermotor Epilepsy (SHE) is a genetically heterogeneous epilepsy syndrome. Differences in epilepsy phenotype/endophenotype were associated with mutations in specific genes. However, the genes identified so far cumulatively account for 25% of cases. Moreover, systematic neuropsychological investigations on comprehensive SHE cohorts are lacking. This study provides an accurate clinical, genetic and neuropsychological characterization of a large cohort of patients diagnosed with SHE according to reliable diagnostic criteria. A subgroup underwent a preliminary screening, partly performed by dHPLC to exclude mutations in CHRNA4, CHRNB2, CHRNA2. Using a number of genetic strategies, we identified causative mutations in 10.4% of our cases. The mutation frequencies were 2.3% for KCNT1 (CI: 0.3-8.1%), 5.9% for GATOR1-complex genes (CI: 2.0-13.3%), 3.1% for CHRNA4 (CI: 0.6-8.8%) and 1.7% for SCN1A (CI 0-8.9%). WES analysis allowed the identification of a novel epilepsy gene, NPRL2, coding a component of GATOR1, a negative regulator of mTOR pathway. Altogether, mutations in the GATOR1 complex genes DEPDC5 and NPRL2 account for the majority of our cases (6%). Genotype-phenotype correlations confirmed their association with focal cortical dysplasia, higher rates of drug-resistance, aura and seizures in wakefulness, with relevant implications in diagnostic and treatment strategies. Moreover, we confirm that mutations in KCNT1 are implicated in severe forms with intellectual disability and psychiatric disorders. The unexpected detection of CHRNA4 mutations highlighted the low sensitivity of dHPLC assay. The systematic neuropsychological study showed that neurocognitive deficits are not uncommon in SHE. Mutated patients scored significantly lower at WAIS, supporting a crucial role of genetics in cognitive deficit by different biological mechanisms and molecular pathways. About 47% of patients of normal intelligence showed some degree of cognitive dysfunction. The pro

Published
2017

247. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

Author

Steffens, Michael, Leu, Costin, Ruppert, Ann-Kathrin, Zara, Federico, Striano, Pasquale, Robbiano, Angela, Capovilla, Giuseppe, Tinuper, Paolo, Gambardella, Antonio, Bianchi, Amedeo, La Neve, Angela, Crichiutti, Giovanni, de Kovel, Carolien G.F., Kasteleijn-Nolst Trenité, Dorothée, de Haan, Gerrit-Jan, Lindhout, Dick, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Steinhoff, Bernhard J., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Elger, Christian E., Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Helbig, Ingo, Stephani, Ulrich, Møller, Rikke S., Hjalgrim, Helle, Dibbens, Leanne M., Bellows, Susannah, Oliver, Karen, Mullen, Saul, Scheffer, Ingrid E., Berkovic, Samuel F., Everett, Kate V., Gardiner, Mark R., Marini, Carla, Guerrini, Renzo, Lehesjoki, Anna-Elina, Siren, Auli, Guipponi, Michel, Malafosse, Alain, Thomas, Pierre, Nabbout, Rima, Baulac, Stephanie, Leguern, Eric, Guerrero, Rosa, Serratosa, Jose M., Reif, Philipp S., Rosenow, Felix, Mörzinger, Martina, Feucht, Martha, Zimprich, Fritz, Kapser, Claudia, Schankin, Christoph J., Suls, Arvid, Smets, Katrin, De Jonghe, Peter, Jordanova, Albena, Caglayan, Hande, Yapici, Zuhal, Yalcin, Destina A., Baykan, Betul, Bebek, Nerses, Ozbek, Ugur, Gieger, Christian, Wichmann, Heinz-Erich, Balschun, Tobias, Ellinghaus, David, Franke, Andre, Meesters, Christian, Becker, Tim, Wienker, Thomas F., Hempelmann, Anne, Schulz, Herbert, Rüschendorf, Franz, Leber, Markus, Pauck, Steffen M., Trucks, Holger, Toliat, Mohammad R., Nürnberg, Peter, Avanzini, Giuliano, Koeleman, Bobby P.C., Sander, Thomas, Steffens, Michael, Leu, Costin, Ruppert, Ann-Kathrin, Zara, Federico, Striano, Pasquale, Robbiano, Angela, Capovilla, Giuseppe, Tinuper, Paolo, Gambardella, Antonio, Bianchi, Amedeo, La Neve, Angela, Crichiutti, Giovanni, de Kovel, Carolien G.F., Kasteleijn-Nolst Trenité, Dorothée, de Haan, Gerrit-Jan, Lindhout, Dick, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Steinhoff, Bernhard J., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Elger, Christian E., Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Helbig, Ingo, Stephani, Ulrich, Møller, Rikke S., Hjalgrim, Helle, Dibbens, Leanne M., Bellows, Susannah, Oliver, Karen, Mullen, Saul, Scheffer, Ingrid E., Berkovic, Samuel F., Everett, Kate V., Gardiner, Mark R., Marini, Carla, Guerrini, Renzo, Lehesjoki, Anna-Elina, Siren, Auli, Guipponi, Michel, Malafosse, Alain, Thomas, Pierre, Nabbout, Rima, Baulac, Stephanie, Leguern, Eric, Guerrero, Rosa, Serratosa, Jose M., Reif, Philipp S., Rosenow, Felix, Mörzinger, Martina, Feucht, Martha, Zimprich, Fritz, Kapser, Claudia, Schankin, Christoph J., Suls, Arvid, Smets, Katrin, De Jonghe, Peter, Jordanova, Albena, Caglayan, Hande, Yapici, Zuhal, Yalcin, Destina A., Baykan, Betul, Bebek, Nerses, Ozbek, Ugur, Gieger, Christian, Wichmann, Heinz-Erich, Balschun, Tobias, Ellinghaus, David, Franke, Andre, Meesters, Christian, Becker, Tim, Wienker, Thomas F., Hempelmann, Anne, Schulz, Herbert, Rüschendorf, Franz, Leber, Markus, Pauck, Steffen M., Trucks, Holger, Toliat, Mohammad R., Nürnberg, Peter, Avanzini, Giuliano, Koeleman, Bobby P.C., and Sander, Thomas

Abstract

Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% and account for 20-30% of all epilepsies. Despite their high heritability of 80%, the genetic factors predisposing to GGEs remain elusive. To identify susceptibility variants shared across common GGE syndromes, we carried out a two-stage genome-wide association study (GWAS) including 3020 patients with GGEs and 3954 controls of European ancestry. To dissect out syndrome-related variants, we also explored two distinct GGE subgroups comprising 1434 patients with genetic absence epilepsies (GAEs) and 1134 patients with juvenile myoclonic epilepsy (JME). Joint Stage-1 and 2 analyses revealed genome-wide significant associations for GGEs at 2p16.1 (rs13026414, Pmeta = 2.5 × 10−9, OR[T] = 0.81) and 17q21.32 (rs72823592, Pmeta = 9.3 × 10−9, OR[A] = 0.77). The search for syndrome-related susceptibility alleles identified significant associations for GAEs at 2q22.3 (rs10496964, Pmeta = 9.1 × 10−9, OR[T] = 0.68) and at 1q43 for JME (rs12059546, Pmeta = 4.1 × 10−8, OR[G] = 1.42). Suggestive evidence for an association with GGEs was found in the region 2q24.3 (rs11890028, Pmeta = 4.0 × 10−6) nearby the SCN1A gene, which is currently the gene with the largest number of known epilepsy-related mutations. The associated regions harbor high-ranking candidate genes: CHRM3 at 1q43, VRK2 at 2p16.1, ZEB2 at 2q22.3, SCN1A at 2q24.3 and PNPO at 17q21.32. Further replication efforts are necessary to elucidate whether these positional candidate genes contribute to the heritability of the common GGE syndromes

Published
2017

248. Prevalence of sleep-related hypermotor epilepsy-formerly named nocturnal frontal lobe epilepsy-in the adult population of the emilia-romagna region, Italy

Author

Vignatelli, Luca, Bisulli, Francesca, Giovannini, Giada, Licchetta, Laura, Naldi, Ilaria, Mostacci, Barbara, Rubboli, Guido, Provini, Federica, Tinuper, Paolo, Meletti, Stefano, Vignatelli, Luca, Bisulli, Francesca, Giovannini, Giada, Licchetta, Laura, Naldi, Ilaria, Mostacci, Barbara, Rubboli, Guido, Provini, Federica, Tinuper, Paolo, and Meletti, Stefano

Published
2017

249. Epilepsy surgery of “low grade epilepsy associated neuroepithelial tumors”:A retrospective nationwide Italian study

Author

Giulioni, Marco, Marucci, Gianluca, Pelliccia, Veronica, Gozzo, Francesca, Barba, Carmen, Didato, Giuseppe, Villani, Flavio, Di Gennaro, Giancarlo, Quarato, Pier Paolo, Esposito, Vincenzo, Consales, Alessandro, Martinoni, Matteo, Vornetti, Gianfranco, Zenesini, Corrado, Efisio Marras, Carlo, Specchio, Nicola, De Palma, Luca, Rocchi, Raffaele, Giordano, Flavio, Tringali, Giovanni, Nozza, Paolo, Colicchio, Gabriella, Rubboli, Guido, Lo Russo, Giorgio, Guerrini, Renzo, Tinuper, Paolo, Cardinale, Francesco, Cossu, Massimo, Giulioni, Marco, Marucci, Gianluca, Pelliccia, Veronica, Gozzo, Francesca, Barba, Carmen, Didato, Giuseppe, Villani, Flavio, Di Gennaro, Giancarlo, Quarato, Pier Paolo, Esposito, Vincenzo, Consales, Alessandro, Martinoni, Matteo, Vornetti, Gianfranco, Zenesini, Corrado, Efisio Marras, Carlo, Specchio, Nicola, De Palma, Luca, Rocchi, Raffaele, Giordano, Flavio, Tringali, Giovanni, Nozza, Paolo, Colicchio, Gabriella, Rubboli, Guido, Lo Russo, Giorgio, Guerrini, Renzo, Tinuper, Paolo, Cardinale, Francesco, and Cossu, Massimo

Abstract

Objective: To analyze the attitude and results of Italian epilepsy surgery centers in the surgical management of “low grade epilepsy associated neuroepithelial tumors” (LEATs). Methods: We conducted a retrospective study enrolling 339 consecutive patients with LEATs who underwent surgery between January 2009 and June 2015 at eight Italian epilepsy surgery centers. We compared demographic, clinical, pathologic, and surgical features of patients with favorable (Engel class I) and unfavorable (Engel class II, III, and IV) seizure outcome. In addition, we compared patients with tumor-associated focal cortical dysplasia (FCD) and patients with solitary tumors to identify factors correlated with FCD diagnosis. Results: Fifty-five (98.2%) of 56 patients with medically controlled epilepsy were seizure-free after surgery, compared to 249 (88.0%) of 283 patients with refractory epilepsy. At multivariate analysis, three variables independently predict unfavorable seizure outcome in the drug-resistant group. Age at surgery is largely the most significant (p = 0.001), with an odds ratio (OR) of 1.04. This means that the probability of seizure recurrence grows by 4% for every waited year. The resection site is also significant (p = 0.039), with a relative risk (RR) of 1.99 for extratemporal tumors. Finally, the completeness of tumor resection has a trend toward significance (p = 0.092), with an RR of 1.82 for incomplete resection. Among pediatric patients, a longer duration of epilepsy was significantly associated with preoperative neuropsychological deficits (p < 0.001). A statistically significant association was observed between FCD diagnosis and the following variables: tailored surgery (p < 0.001), temporal resection (p = 0.001), and surgical center (p = 0.012). Significance: Our nationwide LEATs study gives important insights on factors predicting seizure outcome in refractory epilepsy and determining variability in FCD detection. Timely surgery, regardless of phar

Published
2017

250. Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014:A nationwide multicenter study

Author

Barba, Carmen, Specchio, Nicola, Guerrini, Renzo, Tassi, Laura, De Masi, Salvatore, Cardinale, Francesco, Pellacani, Simona, De Palma, Luca, Battaglia, Domenica, Tamburrini, Gianpiero, Didato, Giuseppe, Freri, Elena, Consales, Alessandro, Nozza, Paolo, Zamponi, Nelia, Cesaroni, Elisabetta, Di Gennaro, Giancarlo, Esposito, Vincenzo, Giulioni, Marco, Tinuper, Paolo, Colicchio, Gabriella, Rocchi, Raffaele, Rubboli, Guido, Giordano, Flavio, Russo, Giorgio Lo, Marras, Carlo Efisio, Cossu, Massimo, Barba, Carmen, Specchio, Nicola, Guerrini, Renzo, Tassi, Laura, De Masi, Salvatore, Cardinale, Francesco, Pellacani, Simona, De Palma, Luca, Battaglia, Domenica, Tamburrini, Gianpiero, Didato, Giuseppe, Freri, Elena, Consales, Alessandro, Nozza, Paolo, Zamponi, Nelia, Cesaroni, Elisabetta, Di Gennaro, Giancarlo, Esposito, Vincenzo, Giulioni, Marco, Tinuper, Paolo, Colicchio, Gabriella, Rocchi, Raffaele, Rubboli, Guido, Giordano, Flavio, Russo, Giorgio Lo, Marras, Carlo Efisio, and Cossu, Massimo

Abstract

Objective The objective of the study was to assess common practice in pediatric epilepsy surgery in Italy between 2008 and 2014. Methods A survey was conducted among nine Italian epilepsy surgery centers to collect information on presurgical and postsurgical evaluation protocols, volumes and types of surgical interventions, and etiologies and seizure outcomes in pediatric epilepsy surgery between 2008 and 2014. Results Retrospective data on 527 surgical procedures were collected. The most frequent surgical approaches were temporal lobe resections and disconnections (133, 25.2%) and extratemporal lesionectomies (128, 24.3%); the most frequent etiologies were FCD II (107, 20.3%) and glioneuronal tumors (105, 19.9%). Volumes of surgeries increased over time independently from the age at surgery and the epilepsy surgery center. Engel class I was achieved in 73.6% of patients (range: 54.8 to 91.7%), with no significant changes between 2008 and 2014. Univariate analyses showed a decrease in the proportion of temporal resections and tumors and an increase in the proportion of FCDII, while multivariate analyses revealed an increase in the proportion of extratemporal surgeries over time. A higher proportion of temporal surgeries and tumors and a lower proportion of extratemporal and multilobar surgeries and of FCD were observed in low (< 50 surgeries/year) versus high-volume centers. There was a high variability across centers concerning pre- and postsurgical evaluation protocols, depending on local expertise and facilities. Significance This survey reveals an increase in volume and complexity of pediatric epilepsy surgery in Italy between 2008 and 2014, associated with a stable seizure outcome.

Published
2017

Catalog

Books, media, physical & digital resources
See catalog results