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7. Predictors of hyperkinetic seizures

Author

Menghi, Veronica, Bisulli, Francesca, Cardinale, Francesco, Vignatelli, Luca, Zenesini, Corrado, Mai, Roberto, Proserpio, Paola, Francione, Stefano, Sartori, Ivana, Tinuper, Paolo, and Nobili, Lino

Published
2022
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9. Traduzione e adattamento alla lingua italiana del glossario dei termini più comunemente usati dagli elettroencefalografisti clinici e proposta per il formato del referto EEG (Revisione IFCN 2017)

Author

Alvisi, Lara, Cantalupo, Gaetano, Eleopra, Roberto, Guerra, Angelo, Lori, Silvia, Marinelli, Lucio, Tassi, Laura, Tinuper, Paolo, Vigevano, Federico, Strigaro, Gionata, Bisulli, Francesca, Assenza, Giovanni, Mecarelli, Oriano, Grippo, Antonello, and Meletti, Stefano

Published
2022
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13. Intravenous immunoglobulin therapy in COVID-19-related encephalopathy

Author

Muccioli, Lorenzo, Pensato, Umberto, Bernabè, Giorgia, Ferri, Lorenzo, Tappatà, Maria, Volpi, Lilia, Cani, Ilaria, Henry, Olivia J., Ceccaroni, Francesca, Cevoli, Sabina, Stofella, Gloria, Pasini, Elena, Fornaro, Giacomo, Tonon, Caterina, Vidale, Simone, Liguori, Rocco, Tinuper, Paolo, Michelucci, Roberto, Cortelli, Pietro, and Bisulli, Francesca

Published
2021
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15. Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations

Author

Riva, Antonella, Orsini, Alessandro, Scala, Marcello, Taramasso, Vittoria, Canafoglia, Laura, d'Orsi, Giuseppe, Di Claudio, Maria Teresa, Avolio, Carlo, D'Aniello, Alfredo, Elia, Maurizio, Franceschetti, Silvana, Di Gennaro, Giancarlo, Bisulli, Francesca, Tinuper, Paolo, Tappatà, Maria, Romeo, Antonino, Freri, Elena, Marini, Carla, Costa, Cinzia, Sofia, Vito, Ferlazzo, Edoardo, Magaudda, Adriana, Veggiotti, Pierangelo, Gennaro, Elena, Pistorio, Angela, Minetti, Carlo, Bianchi, Amedeo, Striano, Salvatore, Michelucci, Roberto, Zara, Federico, Minassian, Berge Arakel, and Striano, Pasquale

Published
2021
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16. The Arousal Disorders Questionnaire: a new and effective screening tool for confusional arousals, Sleepwalking and Sleep Terrors in epilepsy and sleep disorders units

Author

Loddo, Giuseppe, La Fauci, Giusy, Vignatelli, Luca, Zenesini, Corrado, Cilea, Rosalia, Mignani, Francesco, Cecere, Annagrazia, Mondini, Susanna, Baldelli, Luca, Bisulli, Francesca, Licchetta, Laura, Mostacci, Barbara, Guaraldi, Pietro, Giannini, Giulia, Tinuper, Paolo, and Provini, Federica

Published
2021
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17. Clinical practice guidelines on the management of status epilepticus in adults: A systematic review.

Author

Vignatelli, Luca, Tontini, Valentina, Meletti, Stefano, Camerlingo, Maria, Mazzoni, Stefania, Giovannini, Giada, Pasini, Elena, Michelucci, Roberto, Bisulli, Francesca, Tinuper, Paolo, and Di Vito, Lidia

Subjects
STATUS epilepticus, NEUROLOGICAL emergencies, MEDICAL databases, ADULTS, EVIDENCE gaps
Abstract

Objective: Status epilepticus (SE) is the second most common neurological emergency in adults. Despite improvements in the management of acute neurological conditions over the last decade, mortality is still durably high. Because a gap has emerged between SE management based on clinical practice guidelines (CPGs) and actual clinical practice, we conducted a systematic review of CPGs, assessing their quality, outlining commonalities and discrepancies in recommendations, and highlighting research gaps. Methods: We searched the PubMed and EMBASE databases and other gray literature sources (nine among guideline registries, evidence‐based medicine databases, point‐of‐care tools; seven websites of governmental organizations and international neurologic societies) in December 2021 (updated in November 2023). The units of analysis were CPGs that included recommendations on the diagnostic and/or therapeutic management of SE in adults. The quality of the CPGs was assessed using the AGREE II tool. Results: Fifteen CPGs were included. The "Applicability" domain was assigned the lowest median score of 10%. The domains "Stakeholder Involvement", "Rigor of Development," and "Editorial Independence" were as well generally underrated. Recommendations on general and diagnostic management and on organizational interventions were fragmented and scattered. Recommendations on pre‐hospital and hospital treatment of early‐onset and refractory SE were broadly agreed, whereas there was less agreement on the treatment model and medications for established SE and super‐refractory SE. Significance: The CPGs for the management of SE developed in recent years are flawed by several methodological issues and discrepancies in the coverage of important topics. The gap between CPG‐based management of SE and actual clinical practice may be due in part to the inherent limitations of the CPGs produced so far. [ABSTRACT FROM AUTHOR]

Published
2024
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18. Pragmatic computerised perfusion diagnostics for non-convulsive status epilepticus: a prospective observational study.

Author

Merli, Elena, Romoli, Michele, Galluzzo, Simone, Bevacqua, Lorenzo, Saverio Cece, Emanuele, Ricci, Gabriele, Testoni, Stefania, Zaniboni, Anna, Viola, Maria Maddalena, Simonetti, Luigi, Bisulli, Francesca, Contardi, Sara, Tinuper, Paolo, and Zini, Andrea

Subjects
EPILEPSY, STATUS epilepticus, PERFUSION, SEIZURES (Medicine), NEUROLOGICAL emergencies, LONGITUDINAL method
Published
2024
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21. 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

Published
2020
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22. Ictal Bradycardia and Asystole in Sleep-Related Hypermotor Epilepsy: A Study of 200 Patients.

Author

Muccioli, Lorenzo, Bruschi, Giulia, Ferri, Lorenzo, Scarabello, Anna, Taruffi, Lisa, Di Vito, Lidia, Mostacci, Barbara, Provini, Federica, Calandra-Buonaura, Giovanna, Tinuper, Paolo, Licchetta, Laura, and Bisulli, Francesca

Subjects
FOCAL cortical dysplasia, BRADYCARDIA, EPILEPSY, CARDIAC arrest, HEART beat
Abstract

Background: Ictal bradycardia (IB) and asystole (IA) represent a rare but potentially harmful feature of epileptic seizures. The aim of this study was to study IB/IA in patients with sleep-related hypermotor epilepsy (SHE). Methods: We retrospectively included cases with video-EEG-confirmed SHE who attended our Institute up to January 2021. We reviewed the ictal polysomnography recordings focusing on ECG and identified cases with IB (R-R interval ≥ 2 s or a ≥10% decrease of baseline heart rate) and IA (R-R interval ≥ 4 s). Results: We included 200 patients (123 males, 61.5%), with a mean age of 42 ± 16 years. Twenty patients (20%) had focal cortical dysplasia (FCD) on brain MRI. Eighteen (out of 104 tested, 17.3%) carried pathogenic variants (mTOR pathway, n = 10, nAchR subunits, n = 4, KCNT1, n = 4). We identified IB/IA in four cases (2%): three had IA (mean 10 s) and one had IB. Three patients had FCD (left fronto-insular region, left amygdala, right mid-temporal gyrus) and two had pathogenic variants in DEPDC5; both features were more prevalent in patients with IB/IA than those without (p = 0.003 and p = 0.037, respectively). Conclusions: We identified IB/IA in 2% of patients with SHE and showed that this subgroup more frequently had FCD on brain MRI and pathogenic variants in genes related to the mTOR pathway. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Author

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

Published
2018
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25. The landscape of epilepsy-related GATOR1 variants

Author

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, Jr, 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
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28. Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Author

Corbett, Mark A., Kroes, Thessa, Veneziano, Liana, Bennett, Mark F., Florian, Rahel, Schneider, Amy L., Coppola, Antonietta, Licchetta, Laura, Franceschetti, Silvana, Suppa, Antonio, Wenger, Aaron, Mei, Davide, Pendziwiat, Manuela, Kaya, Sabine, Delledonne, Massimo, Straussberg, Rachel, Xumerle, Luciano, Regan, Brigid, Crompton, Douglas, van Rootselaar, Anne-Fleur, Correll, Anthony, Catford, Rachael, Bisulli, Francesca, Chakraborty, Shreyasee, Baldassari, Sara, Tinuper, Paolo, Barton, Kirston, Carswell, Shaun, Smith, Martin, Berardelli, Alfredo, Carroll, Renee, Gardner, Alison, Friend, Kathryn L., Blatt, Ilan, Iacomino, Michele, Di Bonaventura, Carlo, Striano, Salvatore, Buratti, Julien, Keren, Boris, Nava, Caroline, Forlani, Sylvie, Rudolf, Gabrielle, Hirsch, Edouard, Leguern, Eric, Labauge, Pierre, Balestrini, Simona, Sander, Josemir W., Afawi, Zaid, Helbig, Ingo, Ishiura, Hiroyuki, Tsuji, Shoji, Sisodiya, Sanjay M., Casari, Giorgio, Sadleir, Lynette G., van Coller, Riaan, Tijssen, Marina A. J., Klein, Karl Martin, van den Maagdenberg, Arn M. J. M., Zara, Federico, Guerrini, Renzo, Berkovic, Samuel F., Pippucci, Tommaso, Canafoglia, Laura, Bahlo, Melanie, Striano, Pasquale, Scheffer, Ingrid E., Brancati, Francesco, Depienne, Christel, and Gecz, Jozef

Published
2019
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29. Epilepsy in ring chromosome 20 syndrome

Author

Vignoli, Aglaia, Bisulli, Francesca, Darra, Francesca, Mastrangelo, Massimo, Barba, Carmen, Giordano, Lucio, Turner, Katherine, Zambrelli, Elena, Chiesa, Valentina, Bova, Stefania, Fiocchi, Isabella, Peron, Angela, Naldi, Ilaria, Milito, Giuseppe, Licchetta, Laura, Tinuper, Paolo, Guerrini, Renzo, Dalla Bernardina, Bernardo, and Canevini, Maria Paola

Published
2016
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31. Sudden unexpected death in epilepsy: A critical view of the literature.

Author

Giussani, Giorgia, Falcicchio, Giovanni, La Neve, Angela, Costagliola, Giorgio, Striano, Pasquale, Scarabello, Anna, Mostacci, Barbara, Beghi, Ettore, Mecarelli, Oriano, and Tinuper, Paolo

Abstract

Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non‐traumatic and non‐drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus in which postmortem examination does not reveal other causes of death. Lower diagnostic levels are assigned when cases met most or all of these criteria, but data suggested more than one possible cause of death. The incidence of SUDEP ranged from 0.09 to 2.4 per 1000 person‐years. Differences can be attributed to the age of the study populations (with peaks in the 20–40‐year age group) and the severity of the disease. Young age, disease severity (in particular, a history of generalized TCS), having symptomatic epilepsy, and the response to antiseizure medications (ASMs) are possible independent predictors of SUDEP. The pathophysiological mechanisms are not fully known due to the limited data available and because SUDEP is not always witnessed and has been electrophysiologically monitored only in a few cases with simultaneous assessment of respiratory, cardiac, and brain activity. The pathophysiological basis of SUDEP may vary according to different circumstances that make that particular seizure, in that specific moment and in that patient, a fatal event. The main hypothesized mechanisms, which could contribute to a cascade of events, are cardiac dysfunction (included potential effects of ASMs, genetically determined channelopathies, acquired heart diseases), respiratory dysfunction (included postictal arousal deficit for the respiratory mechanism, acquired respiratory diseases), neuromodulator dysfunction, postictal EEG depression and genetic factors. [ABSTRACT FROM AUTHOR]

Published
2023
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34. Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2

Author

Henden, Lyndal, Freytag, Saskia, Afawi, Zaid, Baldassari, Sara, Berkovic, Samuel F., Bisulli, Francesca, Canafoglia, Laura, Casari, Giorgio, Crompton, Douglas Ewan, Depienne, Christel, Gecz, Jozef, Guerrini, Renzo, Helbig, Ingo, Hirsch, Edouard, Keren, Boris, Klein, Karl Martin, Labauge, Pierre, LeGuern, Eric, Licchetta, Laura, Mei, Davide, Nava, Caroline, Pippucci, Tommaso, Rudolf, Gabrielle, Scheffer, Ingrid Eileen, Striano, Pasquale, Tinuper, Paolo, Zara, Federico, Corbett, Mark, and Bahlo, Melanie

Published
2016
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36. Alterations in the α2δ ligand, thrombospondin‐1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies

Author

Santolini, Ines, Celli, Roberta, Cannella, Milena, Imbriglio, Tiziana, Guiducci, Michela, Parisi, Pasquale, Schubert, Julian, Iacomino, Michele, Zara, Federico, Lerche, Holger, Moyanova, Slavianka, Ngomba, Richard Teke, van Luijtelaar, Gilles, Battaglia, Giuseppe, Bruno, Valeria, Striano, Pasquale, Nicoletti, Ferdinando, Palotie, Aarno, Folkhälsan, Anna‐Elina Lehesjoki, Ruppert, Ann‐Kathrin, Siren, Auli, Koeleman, Bobby, Lal, Dennis, Becker, Felicitas, Caglayan, Hande, Hjalgrim, Helle, Muhle, Hiltrud, Thiele, Holger, Helbig, Ingo, Altmuller, Janine, Jabbari, Kamel, Everett, Kate, May, Patrick, Nurnberg, Peter, Møller, Rikke, Nabbout, Rima, Krause, Roland, Balling, Rudi, Baulac, Stephanie, Sander, Thomas, Kunz, Wolfram, Weber, Yvonne, Bianchi, Amedeo, La Neve, Angela, Coppola, Antonietta, Striano, Salvatore, Capovilla, Giuseppe, Ferlazzo, Edoardo, Bagnasco, Irene, Ferretti, Alessandro, Di Bonaventura, Carlo, Vari, Maria Stella, Pinto, Francesca, Bisulli, Francesca, Tinuper, Paolo, Minetti, Carlo, Belcastro, Vincenzo, Giordano, Lucio, and Gambardella, Antonio

Published
2017
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37. 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, and Cossu, Massimo

Published
2017
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38. Impact of regulatory restrictions on the use of valproic acid in women of childbearing age: An Italian study.

Author

Di Vito, Lidia, Mazzoni, Stefania, Belotti, Laura Maria Beatrice, Poluzzi, Elisabetta, Baldin, Elisa, Zenesini, Corrado, Bisulli, Francesca, Tinuper, Paolo, and Mostacci, Barbara

Subjects
CHILDBEARING age, VALPROIC acid, TIME series analysis, MENTAL illness
Abstract

Objective: Due to significant risks to the offspring after intrauterine exposure, the European Medicines Agency issued recommendations in 2014 and 2018 restricting the use of valproate (VPA) in women of childbearing age (WOCA). We aimed to evaluate their impact in the Emilia‐Romagna region (ERR) of Northern Italy. Methods: Using administrative databases, we identified all the ERR residents who received antiseizure medication (ASM) prescriptions from 2010 to 2020. Time series of incidence rates by sex and age group were evaluated for all ASMs. Focusing on VPA, an interrupted time series analysis was applied to assess the impact of the restrictions in WOCA with epilepsy (WOCA‐E) and WOCA with psychiatric disorders (WOCA‐P). We then evaluated the chronological order of ASM prescriptions with regard to the position of VPA. Results: Incidence rates of VPA prescriptions overall decreased over time. A significant decrease was observed only for females. The effect was stronger for WOCA, after both the first (incidence rate ratio [IRR] =.85, 95% confidence interval [CI] =.75–.96) and the second restriction (IRR =.67, 95% CI =.55–.82). The decrease was significant after the second restriction both for WOCA‐E (IRR =.43, 95% CI =.27–.68) and for WOCA‐P (IRR =.49, 95% CI =.35–.70), as well as VPA as a first prescription in both populations. VPA prescriptions as further choice did not show the same trend. Significance: After the regulatory restrictions, an overall significant decline in the use of VPA in WOCA was observed in ERR. The second restriction has been effective in consolidating the prescription trend. However, VPA appears still to be a commonly used drug in WOCA when other ASMs have failed. [ABSTRACT FROM AUTHOR]

Published
2023
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41. 3D figure of epilepsy syndromes.

Author

Nabbout, Rima, Kuchenbuch, Mathieu, Tinuper, Paolo, Cross, J. Helen, and Wirrell, Elaine

Subjects
EPILEPSY, NOSOLOGY, SYNDROMES, TASK forces, AGE of onset
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 the names of epilepsy syndromes, their extreme and classical ages of onset, their epilepsy types (generalized, focal, or generalized and focal) but also their membership in groups of epilepsy syndromes as for self‐limited or developmental and epileptic encephalopathies. With this figure, we provide an interactive tool, as supplementary data, helping to present this classification and link it to electro‐clinical mandatory, alerts, and exclusionary criteria of each syndrome, in accordance with the ILAE position papers on syndromes classification and nosology. This report may be used as an illustrative tool for teaching epilepsy syndromes and as a practical and comprehensive aid for the classification of epilepsy individuals' syndromes. [ABSTRACT FROM AUTHOR]

Published
2023
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46. Response: Do all individuals with Dravet syndrome have intellectual disability?

Author

Zuberi, Sameer M., Wirrell, Elaine, Tinuper, Paolo, and Nabbout, Rima

Subjects
EPILEPSY, INTELLECTUAL disabilities, SYNDROMES, SPECIAL drawing rights, SEIZURES (Medicine)
Abstract

This document is a response to a letter discussing whether all individuals with Dravet syndrome have intellectual disability. The authors of the International League Against Epilepsy (ILAE) position paper on Epilepsy Syndromes in Neonates & Infants argue that intellectual disability is an important criterion for distinguishing Dravet syndrome from other epilepsy phenotypes within the genetic epilepsy with febrile seizures plus (GEFS+) spectrum. The ILAE developed position papers to provide consensus and guidance for clinical practice and research in epilepsy syndromes. The authors suggest that diagnostic prediction scores based on age at onset and genetic data could improve the accuracy of diagnosing Dravet syndrome at an earlier stage. [Extracted from the article]

Published
2024
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49. A clinical and genetic study of 33 new cases with early-onset absence epilepsy

Author

Giordano, Lucio, Vignoli, Aglaia, Accorsi, Patrizia, Galli, Jessica, Pezzella, Marianna, Traverso, Monica, Battaglia, Silvia, Baglietto, Maria Giuseppina, Beccaria, Francesca, Cerminara, Caterina, Gambara, Silvia, Del Giudice, Ennio, Crichiutti, Giovanni, Bisulli, Francesca, Pinci, Mariangela, Tinuper, Paolo, Briatore, Eleonora, Calzolari, Stefano, Coppola, Antonietta, Canevini, Maria Paola, Capovilla, Giuseppe, Striano, Salvatore, Zara, Federico, Minetti, Carlo, and Striano, Pasquale

Published
2011
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50. Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy

Author

Busolin, Giorgia, Malacrida, Sandro, Bisulli, Francesca, Striano, Pasquale, Di Bonaventura, Carlo, Egeo, Gabriella, Pasini, Elena, Cianci, Vittoria, Ferlazzo, Edoardo, Bianchi, Amedeo, Coppola, Giangennaro, Elia, Maurizio, Mecarelli, Oriano, Gobbi, Giuseppe, Casellato, Susanna, Marchini, Marco, Binelli, Simona, Freri, Elena, Granata, Tiziana, Posar, Annio, Parmeggiani, Antonia, Vigliano, Piernanda, Boniver, Clementina, Aguglia, Umberto, Striano, Salvatore, Tinuper, Paolo, Giallonardo, A. Teresa, Michelucci, Roberto, and Nobile, Carlo

Published
2011
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