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7. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Author

Motelow, Joshua E., Povysil, Gundula, Dhindsa, Ryan S., Stanley, Kate E., Allen, Andrew S., Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Cusick, Caroline, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea E., Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Gupta, Namrata, Neale, Benjamin M., Cavalleri, Gianpiero L., Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Hakonarson, Hakon, Heinzen, Erin L., Helbig, Ingo, Kwan, Patrick, Marson, Anthony G., Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Stewart, Randy, Weckhuysen, Sarah, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, Krause, Roland, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bennett, Caitlin A., Leu, Costin, Leech, Stephanie L., O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Ali, Quratulain Zulfiqar, Sadoway, Tara R., Krestel, Heinz, Schaller, André, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Christou, Yiolanda, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Neubauer, Bernd A., Zimprich, Friedrich, Feucht, Martha, Reinthaler, Eva M., Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Baumgartner, Tobias, von Wrede, Randi, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Lauxmann, Stephan, Boßelmann, Christian, Kegele, Josua, Hengsbach, Christian, Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Schankin, Christoph J., Schubert-Bast, Susanne, Schreiber, Herbert, Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Wolff, Markus, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Saarela, Anni, Timonen, Oskari, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rheims, Sylvain, Lesca, Gaetan, Ryvlin, Philippe, Maillard, Louis, Valton, Luc, Derambure, Philippe, Bartolomei, Fabrice, Hirsch, Edouard, Michel, Véronique, Chassoux, Francine, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Baker, Mark D., Fonferko-Shadrach, Beata, Lawthom, Charlotte, Anderson, Joseph, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H.T., Delanty, Norman, Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Widdess-Walsh, Peter, Barišić, Nina, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Ragona, Francesca, Zara, Federico, Iacomino, Michele, Riva, Antonella, Madia, Francesca, Vari, Maria Stella, Salpietro, Vincenzo, Scala, Marcello, Mancardi, Maria Margherita, Nobili, Lino, Amadori, Elisabetta, Giacomini, Thea, Bisulli, Francesca, Pippucci, Tommaso, Licchetta, Laura, Minardi, Raffaella, Tinuper, Paolo, Muccioli, Lorenzo, Mostacci, Barbara, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Barba, Carmen, Hirose, Shinichi, Ishii, Atsushi, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Beydoun, Ahmad, Nasreddine, Wassim, Khoueiry Zgheib, Nathalie, Tumiene, Birute, Utkus, Algirdas, Sadleir, Lynette G., King, Chontelle, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Topaloglu, Pınar, Kara, Bulent, Yis, Uluc, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, YeşÇiğdem, Tsai, Meng-Han, Ho, Chen-Jui, Lin, Chih-Hsiang, Lin, Kuang-Lin, Chou, I-Jun, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Noebels, Jeffrey L., Goldman, Alicia, Busch, Robyn M., Jehi, Lara, Najm, Imad M., Ferguson, Lisa, Khoury, Jean, Glauser, Tracy A., Clark, Peggy O., Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Greenberg, David A., Ellis, Colin A., Goldberg, Ethan, Helbig, Katherine L., Cosico, Mahgenn, Vaidiswaran, Priya, Fitch, Eryn, Berkovic, Samuel F., Lerche, Holger, Lowenstein, Daniel H., and Goldstein, David B.

Published
2021
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8. Premotor antidepressants use differs according to Parkinson's disease subtype: A cohort study

Author

Azzoni, Emanuela, Baschieri, Francesca, Beatrice Belotti, Laura Maria, Bellan, Marzio, Bettelli, Lidia, Capellari, Sabina, Cevoli, Sabina, de Carolis, Piero, Descovich, Carlo, Diodoro, Danilo Di, Ferrara, Renata, Gabellini, Anna Sandra, Giannini, Giulia, Guaraldi, Pietro, Lucchi, Fabiola, Mostacci, Barbara, Procaccianti, Gaetano, Rinaldi, Rita, Rizzo, Giovanni, Sacquegna, Tommaso, Sambati, Luisa, Scaglione, Cesa, Stivanello, Elisa, Tempestini, Antonella, Trocino, Carmelina, Trombetti, Susanna, D'Alessandro, Roberto, Zenesini, Corrado, Baldin, Elisa, Bonavina, Giuseppe, Calandra-Buonaura, Giovanna, Cortelli, Pietro, Fabbri, Giovanni, Guarino, Maria, Nassetti, Stefania Alessandra, Pantieri, Roberta, Samoggia, Giuseppe, Nonino, Francesco, and Vignatelli, Luca

Published
2021
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10. 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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12. Alternatives to valproate in girls and women of childbearing potential with Idiopathic Generalized Epilepsies: state of the art and guidance for the clinician proposed by the Epilepsy and Gender Commission of the Italian League Against Epilepsy (LICE)

Author

Mostacci, Barbara, Ranzato, Federica, Giuliano, Loretta, La Neve, Angela, Aguglia, Umberto, Bilo, Leonilda, Durante, Vania, Ermio, Caterina, Monti, Giulia, Zambrelli, Elena, Lodi, Monica Anna Maria, and Galimberti, Carlo Andrea

Published
2021
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13. Lamotrigine vs levetiracetam in female patients of childbearing age with juvenile absence epilepsy: A Bayesian reanalysis.

Author

Cerulli Irelli, Emanuele, Cocchi, Enrico, Gesche, Joanna, Peña‐Ceballos, Javier, Caraballo, Roberto H., Lattanzi, Simona, Strigaro, Gionata, Orlando, Biagio, Moloney, Patrick B., Catania, Cecilia, Ferlazzo, Edoardo, Pascarella, Angelo, Casciato, Sara, Pizzanelli, Chiara, Milano, Chiara, Giuliano, Loretta, Viola, Veronica, Mostacci, Barbara, Fortunato, Francesco, and Pulitano, Patrizia

Subjects
PROPORTIONAL hazards models, CHILDBEARING age, MEDICAL research, IDIOPATHIC diseases, LAMOTRIGINE
Abstract

Objective: Women of childbearing age with juvenile absence epilepsy (JAE) face treatment challenges due to limited access to safe and effective anti‐seizure medications (ASMs). In a previous study we compared the effectiveness of levetiracetam (LEV) and lamotrigine (LTG) in women with idiopathic generalized epilepsy (IGE), highlighting a superiority of LEV in juvenile myoclonic epilepsy. In this study, we specifically reanalyzed, through a Bayesian approach and by expanding the previously published cohort, the comparative effectiveness of these ASMs as initial monotherapy in JAE. Methods: We conducted a multicenter, retrospective, comparative effectiveness study on women of childbearing age diagnosed with JAE and prescribed LEV or LTG as the initial ASM. Inverse probability treatment weighting (IPTW) Bayesian Cox proportional hazard models were employed to evaluate treatment failure (TF) due to ineffectiveness and ASM retention. The patients' center of provenance and year of prescription were considered as random effect factors. Posterior probabilities and relative log‐risk distribution were computed, and the distribution of posterior draws was analyzed to assess the evidence supporting LTG superiority over LEV. Results: Of 123 patients, those treated with LTG (n = 67) demonstrated lower TF and higher ASM retention than those treated with LEV (n = 56), with the IPTW‐weighted Bayesian Cox proportional hazards model showing a 99.2% posterior probability of LTG being superior on TF and a 99.5% probability on ASM retention. Additional analyses on ≥50% and ≥75% seizure reduction through IPTW‐weighted Bayesian logistic regression largely confirmed these findings, whereas the two ASMs did not show evident differences in terms of seizure freedom. The two ASMs showed comparable safety profiles, with only a minority of patients discontinuing treatment due to side effects. Significance: Bayesian reanalysis supports LTG as first‐line monotherapy for JAE in women of childbearing age, emphasizing the importance of individualized treatment strategies in women with IGE. This study underscores the value of Bayesian methods in refining clinical research and treatment decisions. [ABSTRACT FROM AUTHOR]

Published
2024
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14. EEG in fitness to drive evaluations in people with epilepsy — Considerable variations across Europe

Author

Markhus, Rune, Henning, Oliver, Molteberg, Ellen, Hećimović, Hrvoje, Ujvari, Akos, Hirsch, Edouard, Rheims, Sylvain, Surges, Rainer, Malmgren, Kristina, Rüegg, Stephan, Gil-Nagel, Antonio, Roivainen, Reina, Picard, Fabienne, Steinhoff, Bernhard, Marusic, Petr, Mostacci, Barbara, Kimiskidis, Vasilios K., Mindruta, Ioana, Jagella, Caroline, Mameniškienė, Rūta, Schulze-Bonhage, Andreas, Rosenow, Felix, Kelemen, Anna, Fabo, Daniel, Walker, Matthew C., Seeck, Margitta, Krämer, Günter, Arsene, Oana Tarta, Krestel, Heinz, and Lossius, Morten

Published
2020
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17. Personality disorders in people with epilepsy: a review.

Author

Viola, Veronica, Bisulli, Francesca, Cornaggia, Cesare Maria, Ferri, Lorenzo, Licchetta, Laura, Muccioli, Lorenzo, and Mostacci, Barbara

Subjects
PEOPLE with epilepsy, PERSONALITY disorders, PSYCHOGENIC nonepileptic seizures, EPILEPSY, TEMPORAL lobe epilepsy, BORDERLINE personality disorder, TEMPORAL lobectomy, PEDIATRIC surgery
Abstract

Epileptologists and psychiatrists have long observed a correlation between epilepsy and personality disorders (PDs) in their clinical practice. We conducted a comprehensive PubMed search looking for evidence on PDs in people with epilepsy (PwE). Out of over 600 results obtained without applying any time restriction, we selected only relevant studies (both analytical and descriptive) limited to English, Italian, French and Spanish languages, with a specific focus on PDs, rather than traits or symptoms, thus narrowing our search down to 23 eligible studies. PDs have been investigated in focal epilepsy (predominantly temporal lobe epilepsy - TLE), juvenile myoclonic epilepsy (JME) and psychogenic non-epileptic seizures (PNES), with heterogeneous methodology. Prevalence rates of PDs in focal epilepsy ranged from 18 to 42% in surgical candidates or post-surgical individuals, with Cluster C personality disorders or related traits and symptoms being most common. In JME, prevalence rates ranged from 8 to 23%, with no strong correlation with any specific PDs subtype. In PNES, prevalence rates ranged from 30 to 60%, with a notable association with Cluster B personality disorders, particularly borderline personality disorder. The presence of a PD in PwE, irrespective of subtype, complicates treatment management. However, substantial gaps of knowledge exist concerning the neurobiological substrate, effects of antiseizure medications and epilepsy surgery on concomitant PDs, all of which are indeed potential paths for future research. [ABSTRACT FROM AUTHOR]

Published
2024
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19. Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry

Author

Faravelli, Francesca, Pantaleoni, Chiara, Robert-Gnansia, Elisabeth, Cabral-Lim, Leonor, Čebular, Boštjan, De Marinis, Alejandro, Kälviäinen, Reetta, Khomeriki, Ketevan, Kiteva-Trencevska, Gordana, Kochen, Silvia, Kurthen, Martin, Luef, Gerhard, Martinez Ferri, Meritxell, Milovanović, Maja, Nakken, Karl Otto, Neufeld, Miri, Ohtani, Hideyuki, Russell, Aline, Safcák, Vladimír, Schmitz, Bettina, Specchio, Luigi Maria, Tettenborn, Barbara, van Puijenbroek, Eugene, Yu, Hsiang-Yu, Zarubova, Jana, Albretsen, Claus, Alvestad, Silje, Andersen, Noemi Becser, Antonini, Luisa, Arentsen, Jens, Aurlien, Dag, Barzinji, Ismael, Becerra Cuñat, Juan Luis, Bohorquez Morera, Natalia, Brodie, Martin J., Brodtkorb, Eylert, Broglio, Laura, Bruun Christensen, Elsebeth, Bušek, Petr, Cagnetti, Claudia, Canevini, Maria Paola, Carius, Astrid, Castro Vilanova, Maria Dolores, Cecconi, Michela, Chang, T-Y, Christensen, Jakob, De Maria, Giovanni, Dennig, Dieter, Diputado, Brenda, Ertresvåg, Janne Marit, Escartin, Toni, Flügel, Dominique, Forsom Sondal, Birgitte, Foschi, Nicoletta, Franza, Albertina, Fukushima, Katsuyuki, Gambardella, Antonio, Garamendi Ruiz, Iñigo, Gauffin, Helena, Gellert, Pia, Gjerstad, Leif, Gordon, Lisa, Haggag, Katrine, Halawa, Imad, Heikinheimo-Connell, Terttu, Hendgen, Tim, Hertz, Zarouhi, Hildenhagen, Odo, Hödl, Stephanie, Hogenesch, Ineke, Huuse Farmen, Anette, Inoue, Yushi, Juhl, Stefan, Kato, Masaaki, Kenou Van Rijckevorssel, Germaine, Kluck, E., Krijtová, Hana, Kumlien, Eva, Labate, Angelo, Lasch, Theresa, Lindsten, Hans, Listonova, Renata, Lossius, Rasmus, Lundgren, Anders, Malmgren, Kristina, Marečková, Iva, Marino, Daniela, Mattsson, Peter, McGonigal, Aileen, Miesczanleh, Katarzyna, Mizobuchi, Masahiro, Mostacci, Barbara, Müffelmann, Birgit, Navn, Uden, Nilsson, Anders, Oehl, Bernhard, Ortenzi, Andrea, Osseforth, Judith, Paggi, Aldo, Pastor, Eliana, Pedersen, Birthe, Petrenaite, Vaiva, Pignatta, Pietro, Pires, Isabel, Pistelli, Alessandra, Riuz Gimenez, Jesús Antonio, Rocchi, Raffaele, Rodam, Lone, Roivainen, Reina, Rytířová, Gisela, Samsonsen, Christian, Sansa Fayos, Gemma, Saukkonen, Anna Maija, Sikiric, Alma, Sopelana Garay, David, Steinhoff, Bernhard, Strandberg, Maria, Svendsen, Torleiv, Tauboll, Erik, Terada, Kiyohito, Trivisano, Marina, Turner, Katherine, Worm, Mogens, Zakharia, Elias, Zambrelli, Elena, Zarifi-Oskoie, Morteza, Tomson, Torbjörn, Battino, Dina, Bonizzoni, Erminio, Craig, John, Lindhout, Dick, Perucca, Emilio, Sabers, Anne, Thomas, Sanjeev V, and Vajda, Frank

Published
2018
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20. 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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21. Topiramate ban in women of childbearing potential with idiopathic generalized epilepsy: Does effectiveness offset the teratogenic risks?

Author

Cerulli Irelli, Emanuele, Cocchi, Enrico, Mostacci, Barbara, Orlando, Biagio, Gesche, Joanna, Caraballo, Roberto H., Lattanzi, Simona, Strigaro, Gionata, Catania, Cecilia, Pulitano, Patrizia, Panzini, Chiara, Ferlazzo, Edoardo, Pascarella, Angelo, Casciato, Sara, Pizzanelli, Chiara, Giuliano, Loretta, Viola, Veronica, Fortunato, Francesco, Di Gennaro, Giancarlo, and Gambardella, Antonio

Subjects
TERMINATION of treatment, EPILEPSY, TOPIRAMATE, TREATMENT failure, GOVERNMENT agencies
Abstract

Regulatory agencies have recently discouraged the prescription of topiramate (TPM) to women of childbearing potential with epilepsy due to growing evidence of the teratogenic and neurodevelopmental risks associated with its use during pregnancy. It remains, however, unclear whether the use of TPM in this population can be supported to some extent by its high effectiveness. In this multicenter, retrospective, cohort study performed at 22 epilepsy centers, we investigated the comparative effectiveness of TPM and levetiracetam (LEV) given as first‐line antiseizure medication in a cohort of women of childbearing potential with idiopathic generalized epilepsy (IGE). A total of 336 participants were included, of whom 24 (7.1%) received TPM and 312 (92.9%) LEV. Women treated with TPM had significantly higher risks of treatment failure and treatment withdrawal and were less likely to achieve seizure freedom at 12 months compared to women treated with LEV. In conclusion, this study highlighted a low tendency among clinicians to use TPM in women of childbearing potential with IGE, anticipating the recently released restrictions on its use. Furthermore, the available data on effectiveness do not appear to support the use of TPM in this population. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Levetiracetam vs Lamotrigine as First-Line Antiseizure Medication in Female Patients With Idiopathic Generalized Epilepsy.

Author

Cerulli Irelli, Emanuele, Cocchi, Enrico, Morano, Alessandra, Gesche, Joanna, Caraballo, Roberto H., Lattanzi, Simona, Strigaro, Gionata, Catania, Cecilia, Ferlazzo, Edoardo, Pascarella, Angelo, Casciato, Sara, Quarato, Pierpaolo, Pizzanelli, Chiara, Pulitano, Patrizia, Giuliano, Loretta, Viola, Veronica, Mostacci, Barbara, Fortunato, Francesco, Marini, Carla, and Di Gennaro, Giancarlo

Published
2023
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28. 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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32. 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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35. Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium‐chain acyl‐coenzyme A dehydrogenase deficiency.

Author

Cani, Ilaria, Pondrelli, Federica, Licchetta, Laura, Minardi, Raffaella, Giangregorio, Tania, Mostacci, Barbara, Muccioli, Lorenzo, Di Vito, Lidia, Fetta, Anna, Barba, Carmen, Castioni, Carlo Alberto, Bordugo, Andrea, Tinuper, Paolo, and Bisulli, Francesca

Subjects
INBORN errors of metabolism, YOUNG women, EPILEPSY, ETIOLOGY of diseases, ADULTS
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 permanent left hemiplegia and drug‐resistant epilepsy with neurodevelopmental delay. Throughout her clinical history, recurrent episodes of lethargy, feeding difficulties, and clustering seizures occurred, progressing into a super refractory SE and death at the age of 25 years. Although epilepsy is not a distinctive feature of MCADD, we advise considering this metabolic disease as a possible etiology of epileptic encephalopathy and hemiconvulsion‐hemiplegia‐epilepsy syndrome of unknown origin, on the chance to provide a timely and targeted treatment preventing development delay and evolution to SE. Adult patients with epilepsy of unknown etiology not screened at birth for inborn errors of metabolism, such as MCADD, should be promptly investigated for these treatable conditions. [ABSTRACT FROM AUTHOR]

Published
2022
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39. Relationship between plasma concentrations and clinical effects of perampanel: A prospective observational study

Author

Ambrosetti, Irene, Boni, Antonella, Messana, Tullio, Michelucci, Roberto, Mostacci, Barbara, Parmeggiani, Antonia, Passarelli, Daniela, Rizzi, Romana, Russo, Angelo, Volpi, Lilia, Contin, Manuela, Pondrelli, Federica, Muccioli, Lorenzo, Mohamed, Susan, Santucci, Margherita, Ferri, Lorenzo, Licchetta, Laura, Tinuper, Paolo, and Bisulli, Francesca

Published
2020
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41. Risk of hospitalization and death for COVID‐19 in persons with epilepsy over a 20‐month period: The EpiLink Bologna cohort, Italy.

Author

Muccioli, Lorenzo, Zenesini, Corrado, Taruffi, Lisa, Licchetta, Laura, Mostacci, Barbara, Di Vito, Lidia, Pasini, Elena, Volpi, Lilia, Riguzzi, Patrizia, Ferri, Lorenzo, Baccari, Flavia, Nonino, Francesco, Michelucci, Roberto, Tinuper, Paolo, Vignatelli, Luca, and Bisulli, Francesca

Subjects
PEOPLE with epilepsy, COVID-19, PARTIAL epilepsy, HOSPITAL care, COVID-19 pandemic
Abstract

Objective: Data on COVID‐19 outcomes in persons with epilepsy (PWE) are scarce and inconclusive. We aimed to study the risk of hospitalization and death for COVID‐19 in a large cohort of PWE from March 1, 2020 to October 31, 2021. Methods: The historical cohort design (EpiLink Bologna) compared adult PWE grouped into people with focal epilepsy (PFE), idiopathic generalized epilepsy (PIGE), and developmental and/or epileptic encephalopathy (PDEE), and a population cohort matched (ratio 1:10) for age, sex, residence, and comorbidity (assessed with the multisource comorbidity score), living in the local health trust of Bologna (approximately 800 000 residents). Clinical data were linked to health administrative data. Results: In both cohorts (EpiLink: n = 1575 subjects, 1128 PFE, 267 PIGE, 148 PDEE, 32 other; controls: n = 15 326 subjects), 52% were females, and the mean age was 50 years (SD = 18). Hospital admissions for COVID‐19 in the whole period were 49 (3.1%) in PWE and 225 (1.5%) in controls. The adjusted hazard ratio (aHR) in PWE was 1.9 (95% confidence interval [CI] = 1.4–2.7). The subgroups at higher risk were PFE (aHR = 1.9, 95% CI = 1.3–2.8) and PDEE (aHR = 3.9, 95% CI = 1.7–8.7), whereas PIGE had a risk comparable to the controls (aHR = 1.1, 95% CI =.3–3.5). Stratified analyses of the two main epidemic waves (March–May 2020, October 2020–May 2021) disclosed a higher risk of COVID‐19‐related hospitalization during the first epidemic wave (March–May 2020; aHR = 3.8, 95% CI = 2.2–6.7). Polytherapy with antiseizure medications contributed to a higher risk of hospital admission. Thirty‐day risk of death after hospitalization was 14% in both PWE and controls. Significance: During the first 20 months since the outbreak of COVID‐19 in Bologna, PWE had a doubled risk of COVID‐19 hospital admission compared to a matched control population. Conversely, epilepsy did not represent a risk factor for COVID‐19‐related death. [ABSTRACT FROM AUTHOR]

Published
2022
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42. Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients

Author

Bianchi, Amedeo, Striano, Pasquale, Gambardella, Antonio, Giordano, Lucio, Santucci, Margherita, Meletti, Stefano, Crichiutti, Giovanni, Marini, Carla, Vignoli, Aglaia, Dilena, Roberto, Briatore, Eleonora, Licchetta, Laura, Pippucci, Tommaso, Baldassari, Sara, Minardi, Raffaella, Provini, Federica, Mostacci, Barbara, Plazzi, Giuseppe, Tinuper, Paolo, and Bisulli, Francesca

Published
2020
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47. Epilepsy With Auditory Features: From Etiology to Treatment.

Author

Furia, Alessandro, Licchetta, Laura, Muccioli, Lorenzo, Ferri, Lorenzo, Mostacci, Barbara, Mazzoni, Stefania, Menghi, Veronica, Minardi, Raffaella, Tinuper, Paolo, and Bisulli, Francesca

Subjects
EPILEPSY, ETIOLOGY of diseases, WORD deafness, PARTIAL epilepsy, TEMPORAL lobe, THERAPEUTICS, PEOPLE with epilepsy, RECESSIVE genes
Abstract

Epilepsy with auditory features (EAF) is a focal epilepsy belonging to the focal epileptic syndromes with onset at variable age according to the new ILAE Classification. It is characterized by seizures with auditory aura or receptive aphasia suggesting a lateral temporal lobe involvement of the epileptic discharge. Etiological factors underlying EAF are largely unknown. In the familial cases with an autosomal dominant pattern of inheritance several genes have been involved, among which the first discovered, LGI1 , was thought to be predominant. However, increasing evidence now points to a multifactorial etiology, as familial and sporadic EAF share a virtually identical electro-clinical characterization and only a few have a documented genetic etiology. Patients with EAF usually have an unremarkable neurological examination and a good response to antiseizure medications. However, it must be underscored that total remission might be lower than expected and that treatment withdrawal might lead to relapses. Thus, a proper understanding of this condition is in order for better patient treatment and counseling. Further studies are still required to further characterize the many facets of EAF. [ABSTRACT FROM AUTHOR]

Published
2022
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48. 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, Bisulli, Francesca, Poluzzi, Elisabetta, Cocchi, Guido, Piccinni, Carlo, Curti, Alessandra, Simonazzi, Giuliana, Astolfi, Gianni, Rizzo, Nicola, Zenesini, Corrado, D'Alessandro, Roberto, Tinuper, Paolo, Licchetta, Laura, Mostacci, Barbara, Bisulli, Francesca, Poluzzi, Elisabetta, Cocchi, Guido, Piccinni, Carlo, Curti, Alessandra, Simonazzi, Giuliana, Astolfi, Gianni, Rizzo, Nicola, Zenesini, Corrado, D'Alessandro, Roberto, Tinuper, Paolo, and Licchetta, Laura

Subjects
Male, medicine.medical_specialty, neuropharmacology, Infant, Newborn, Diseases, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, medicine, Hospital discharge, Humans, clinical neurology, 030212 general & internal medicine, Medical prescription, Pregnancy outcomes, reproductive and urinary physiology, Retrospective Studies, Epilepsy, Obstetrics, business.industry, Infant, Newborn, Pregnancy Outcome, epilepsy,anticonvulsant, Fetal health, medicine.disease, Population based study, Pregnancy Complications, Psychiatry and Mental health, Distress, Italy, anticonvulsants, Small for gestational age, Surgery, Female, Neurology (clinical), pharmacology, business, 030217 neurology & neurosurgery
Abstract

ObjectivesTo assess the prevalence of antiepileptic drug (AED) exposure in pregnant women and the comparative risk of terminations of pregnancy (TOPs), spontaneous abortions, stillbirths, major birth defects (MBDs), neonatal distress and small for gestational age (SGA) infants following intrauterine AED exposure in the Emilia Romagna region, Italy (4 459 246 inhabitants on 31 December 2011).MethodsWe identified all deliveries and hospitalised abortions in Emilia Romagna in the period 2009–2011 from the certificate of delivery assistance registry (Certificato di Assistenza al Parto— CedAP) and the hospital discharge card registry, exposure to AEDs from the reimbursed drug prescription registries, MBDs from the regional registry of congenital malformations, and Apgar scores and cases of SGA from the CedAP. Records from different registries were linked.ResultsWe identified 145 243 pregnancies: 111 284 deliveries, 16 408 spontaneous abortions and 17 551 TOPs. Six hundred and eleven pregnancies (0.42%; 95% Cl 0.39 to 0.46) were exposed to AEDs. In the AED-exposed group 21% of pregnancies ended in TOPs vs 12% in the non-exposed women (OR: 2.24; 95% CI 1.41 to 3.56). Rates of spontaneous abortions, stillbirths, neonatal distress and SGA were comparable. Three hundred and fifty-three babies (0.31%; 95% CI 0.28 to 0.35) were exposed to AEDs during the first trimester. MBD rates were 2.3% in the exposed vs 2.0% in the non-exposed pregnancies (OR: 1.12, 95% CI 0.55 to 2.55).ConclusionThe Emilia Romagna prevalence of AED exposure in pregnancy was 0.42%, comparable with previous European studies. Rates of spontaneous abortions, stillbirths, neonatal distress, SGA and MBDs following AED exposure were not significantly increased. The rate of TOPs was significantly higher in the AED-exposed women.

Published
2018

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