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1. Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy

Author

Dell’Isola, Giovanni Battista, Fattorusso, Antonella, Pisani, Francesco, Mastrangelo, Mario, Cordelli, Duccio Maria, Pavone, Piero, Parisi, Pasquale, Ferretti, Alessandro, Operto, Francesca Felicia, Elia, Maurizio, Carotenuto, Marco, Pruna, Dario, Matricardi, Sara, Spezia, Elisabetta, Spalice, Alberto, Scorrano, Giovanna, Savasta, Salvatore, Prontera, Paolo, Di Cara, Giuseppe, Fruttini, Daniela, Salpietro, Vincenzo, Striano, Pasquale, and Verrotti, Alberto

Published
2024
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2. CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy

Author

Dell’Isola, Giovanni Battista, Fattorusso, Antonella, Pisani, Francesco, Mastrangelo, Mario, Cordelli, Duccio Maria, Pavone, Piero, Parisi, Pasquale, Ferretti, Alessandro, Operto, Francesca Felicia, Elia, Maurizio, Carotenuto, Marco, Pruna, Dario, Matricardi, Sara, Spezia, Elisabetta, Spalice, Alberto, Scorrano, Giovanna, Savasta, Salvatore, Prontera, Paolo, Di Cara, Giuseppe, Fruttini, Daniela, Salpietro, Vincenzo, Striano, Pasquale, and Verrotti, Alberto

Published
2024
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3. Epilepsy after acute central nervous system complications of pediatric hematopoietic cell transplantation: A retrospective, multicenter study

Author

Bergonzini, Luca, Leardini, Davide, Rao, Roberta, Foiadelli, Thomas, Faraci, Maura, Mancardi, Maria Margherita, Nobile, Giulia, Orsini, Alessandro, Savasta, Salvatore, Gottardi, Francesca, Fetta, Anna, Mina, Tommaso, Casazza, Gabriella, Menconi, Maria Cristina, Pruna, Dario, Mura, Rosa Maria, Piroddi, Antonio, Rucci, Paola, Masetti, Riccardo, and Cordelli, Duccio Maria

Published
2024
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5. The effect of executive function on health related quality of life in children with self-limited epilepsy with centrotemporal spikes

Author

Zanaboni, Martina Paola, Pasca, Ludovica, Bergamoni, Stefania, Bova, Stefania Maria, Celario, Massimiliano, Freri, Elena, Grumi, Serena, Filippini, Melissa, Leonardi, Valeria, Micheletti, Serena, Operto, Francesca Felicita, Papa, Amanda, Pastorino, Grazia Maria Giovanna, Peruzzi, Cinzia, Pruna, Dario, Ragona, Francesca, Raviglione, Federico, Totaro, Martina, Varesio, Costanza, and De Giorgis, Valentina

Published
2024
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8. Corrigendum: The new Italian registry of infantile thrombosis (RITI): a reflection on its journey, challenges and pitfalls

Author

Maria Federica Pelizza, Matteo Martinato, Anna Rosati, Margherita Nosadini, Paola Saracco, Paola Giordano, Matteo Luciani, Laura Ilardi, Donatella Lasagni, Angelo Claudio Molinari, Rossana Bagna, Antonella Palmieri, Luca Antonio Ramenghi, Massimo Grassi, Mariella Magarotto, Federica Magnetti, Andrea Francavilla, Giuseppe Indolfi, Agnese Suppiej, Chiara Gentilomo, Roberta Restelli, Antonella Tufano, Daniela Tormene, Jacopo Norberto Pin, Clarissa Tona, Davide Meneghesso, Lidia Rota, Marta Conti, Giovanna Russo, Giulia Lorenzoni, Dario Gregori, Stefano Sartori, Paolo Simioni, Collaborators of the R.I.T.I. (Italian and Registry of Infantile Thrombosis), Accorsi Patrizia, Aceto Gabriella, Agnoletti Gabriella, Agostini Manuela, Alfarano Angela, Altieri Elena, Amador Carolina, Antonelli Camilla, Arena Vittoria, Asta Francesca, Baggio Laura, Ballardini Elisa, Baracetti Margherita, Baraldi Eugenio, Barberis Laura, Barisone Elena, Basso Anne Letizia, Battajon Nadia, Bersani Iliana, Biddeci Giada, Biffanti Roberta, Bonardi Claudia Maria, Bonaudo Roberto, Boniver Clementina, Boscarol Gianluca, Bottino Roberto, Bravar Giulia, Brizzi Ilaria, Brolatti Noemi, Braguglia Annabella, Guaragni Brunetta, Bugin Samuela, Calvo Pier Luigi, Capasso Antonella, Capodiferro Donatella, Cappelleri Alessia, Cascarano Maria Teresa, Casellato Susanna, Casini Tommaso, Catarzi Serena, Cavaliere Elena, Cavicchiolo Maria Elena, Celestino Silvia, Celle Maria Elena, Centonze Nicola, Cerutti Alessia, Chakrokh Roksana, Offer Chiara, Chiodin Elisabetta, Chirico Gaetano, Chukhlantseva Natalia, Cifarelli Paola, Cinelli Giulia, Coinu Marisa, Colonna Clara, Comito Donatella, Corato Alessandra, Cordelli Duccio Maria, Crichiutti Giovanni, Cursio Ida, Dagri Arianna, De Maria Beatrice, Del Borrello Giovanni, Di Rienzo Francesca, Doglioni Nicoletta, Dolcemascolo Valentina, Dotta Andrea, Drigo Paola, Drimaco Pietro, Ellero Serena, Falcone Alessandra, Fantauzzi Ambra, Farinasso Daniela, Ferilli Michela, Festa Silvia, Fischer Maximilian, Foiadelli Thomas, Fotzi Ilaria, Francavilla Rosa, Freschi Paola, Gaffuri Marcella, Gallo Elena, Gamalero Lisa, Gandioli Claudia, Garuccio Sergio, Gentile Diletta, Ghionzoli Marco, Giliberti Paola, Greco Filippo, Guariento Chiara, Guidotti Isotta, Iodice Alessandro, Janes Augusta, Laghi Elena, Lampugnani Elisabetta, Lassandro Giuseppe, Laverda Anna Maria, Lazzerotti Alessandra, Lo Tartaro Meragliotta Patrizia, Lombardini Martina, Lorenzon Eleonora, Mainini Nicoletta, Massoud Michela, Materia Valeria, Mattera Raffaele, Mauro Isabella, Melani Federico, Meli Mariaclaudia, Messina Giovanni, Monticone Sonia, Moras Marzia, Negro Ilaria, Olzai Giorgio, Pancani Simone, Pandolfi Maria, Passariello Annalisa, Passarini Alice, Passone Eva, Pastorino Myriam, Pegoraro Veronica, Pennoni Serena, Perilongo Giorgio, Pozzessere Anna, Pruna Dario, Pusiol Anna, Putti Maria Caterina, Rabbone Ivana, Radicioni Maurizio, Renna Salvatore, Ricci Maria Luisa, Rimini Alessandro, Rivellini Sara, Rustioni Gianluca, Salvadori Sabrina, Santoiemma Valentina, Santoro Nicola, Schiavulli Michele, Sebellin Sofia, Sesta Michela, Soffiati Massimo, Sorbo Monica, Spanedda Giuseppina, Stangalini Valeria, Stasolla Salvatore, Tanzi Giorgia, Testa Tiziana, Teutonico Federica, Timpani Giuseppina, Toldo Irene, Trapani Sandra, Vaccari Roberto, Vecchi Marilena, Vento Giovanni, Veraldi Daniele, Villa Giovanna, Visintin Gianluca, Zambelloni Cesare, and Zellini Francesco

Subjects
thrombosis, stroke, children, pediatric, registry, thromboembolism, Pediatrics, RJ1-570
Published
2024
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9. Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study

Author

Toldo, Irene, Brunello, Francesco, Cavasin, Paola, Nosadini, Margherita, Sartori, Stefano, Frigo, Anna Chiara, Mai, Roberto, Pelliccia, Veronica, Mancardi, Maria Margherita, Striano, Pasquale, Severino, Marisavina, Zara, Federico, Rizzi, Romana, Casellato, Susanna, Di Rosa, Gabriella, Mastrangelo, Mario, Spalice, Alberto, Budetta, Mauro, De Palma, Luca, Guerrini, Renzo, Pruna, Dario, Cordelli, Duccio Maria, Sofia, Vito, Papa, Amanda, Chiesa, Valentina, Ragona, Francesca, Parisi, Pasquale, D'Aniello, Alfredo, Veggiotti, Pierangelo, Dainese, Filippo, Giordano, Lucio, Licchetta, Laura, Tinuper, Paolo, D'Orsi, Giuseppe, Cassina, Matteo, and Manara, Renzo

Published
2023
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10. An Italian consensus on the management of Lennox-Gastaut syndrome

Author

Aguglia, Umberto, Bagnasco, Irene, Bartolini, Emanuele, Battaglia, Domenica, Beccaria, Francesca, Belcastro, Vincenzo, Bernardo, Pia, Bonanni, Paolo, Boniver, Clementina, Bonuccelli, Alice, Briatore, Eleonora, Brigo, Francesco, Cesaroni, Elisabetta, Coa, Roberta, Costa, Cinzia, D'Aniello, Alfredo, De Giorgis, Valentina, Gennaro, Giancarlo Di, Ferrari, Anna Rita, Marchese, Francesca, Matricardi, Sara, Messana, Tullio, Morano, Alessandra, Operto, Francesca Felicia, Orsini, Alessandro, Parmeggiani, Lucio, Peruzzi, Cinzia, Pruna, Dario, Puligheddu, Monica, Pulitano, Patrizia, Ragona, Francesca, Romigi, Andrea, Rosati, Anna, Rosati, Eleonora, Russo, Angelo, Sartori, Stefano, Spagnoli, Carlotta, Spanò, Maria, Trabacca, Antonio, Troisi, Serena, Viri, Maurizio, Zucca, Claudio, Riva, Antonella, Coppola, Antonietta, Bonaventura, Carlo Di, Elia, Maurizio, Ferlazzo, Edoardo, Gobbi, Giuseppe, Marini, Carla, Meletti, Stefano, Romeo, Antonino, Santoro, Katia, Verrotti, Alberto, Capovilla, Giuseppe, and Striano, Pasquale

Published
2022
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12. National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

Author

Mei, Davide, Balestrini, Simona, Parrini, Elena, Gambardella, Antonio, Annesi, Grazia, De Giorgis, Valentina, Gana, Simone, Teresa Bassi, Maria, Zucca, Claudio, Elia, Maurizio, Vetri, Luigi, Castellotti, Barbara, Ragona, Francesca, Mastrangelo, Mario, Pisani, Francesco, d'Orsi, Giuseppe, Carella, Massimo, Pruna, Dario, Giglio, Sabrina, and Marini, Carla

Abstract

Background We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period. Methods Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis of DEE, caused by a pathogenic or likely pathogenic variant in one of the selected genes, with a molecular diagnosis established between 2012 and 2022. These data were used as a proxy to estimate the prevalence rate of DEEs. Results We included 1568 unique patients and found a mean incidence proportion of 2.6 patients for 100.000 inhabitants (SD=1.13) with consistent values across most Italian regions. The number of molecular diagnoses showed a continuing positive trend, resulting in more than a 10-fold increase between 2012 and 2022. The mean age at molecular diagnosis was 11.2 years (range 0-75). Pathogenic or likely pathogenic variants in genes with an autosomal dominant inheritance pattern occurred in 77% (n=1207) patients; 17% (n=271) in X-linked genes and 6% (n=90) in genes with autosomal recessive inheritance. The most frequently reported genes in the survey were SCN1A (16%), followed by KCNQ2 (5.6%) and SCN2A (5%). Conclusion Our study provides a large dataset of patients with monogenic DEE, from a European country. This is essential for informing decision-makers in drug development on the appropriateness of initiatives aimed at developing precision medicine therapies and is instrumental in implementing disease-specific registries and natural history studies. [ABSTRACT FROM AUTHOR]

Published
2025
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13. Vascular Abnormalities and Neurofibromatosis Type 1: A Paediatric Case Series.

Author

Currao, Paolo, Balzarini, Marta, Pruna, Dario, Marica, Monica, Soddu, Consolata, Marras, Mariangela, Pavanello, Marco, Satta, Stefania, and Savasta, Salvatore

Subjects
RENAL artery, SYMPTOMS, CEREBROVASCULAR disease, ARTERIAL stenosis, HYPERTENSION, NEUROFIBROMATOSIS 1
Abstract

Neurofibromatosis type 1 (NF1) is a multisystemic neurocutaneous disease caused by a heterozygous mutation of the NF1 gene that encodes neurofibromin. Complications include vascular and neurologic abnormalities such as moyamoya syndrome, a cerebrovascular disorder with progressive occlusion of the large intracranial arteries, leading to ischemic events and the formation of abnormal vascular networks. Stenosis of the renal artery is another frequent complication of neurofibromatosis type 1, and it represents the most common cause of secondary hypertension in these patients. The purpose of the article is to describe the clinical manifestations of neurofibromatosis type 1 vasculopathy in 4 patients presenting with a wide range of neurologic and reno-vascular manifestations, as well as to examine current diagnostic management and follow-up, current therapeutic options, and to discuss further perspectives in terms of screening, diagnosis, and treatment. [ABSTRACT FROM AUTHOR]

Published
2025
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14. The new Italian registry of infantile thrombosis (RITI): A reflection on its journey, challenges and pitfalls

Author

Maria Federica Pelizza, Matteo Martinato, Anna Rosati, Margherita Nosadini, Paola Saracco, Paola Giordano, Matteo Luciani, Laura Ilardi, Donatella Lasagni, Angelo Claudio Molinari, Rossana Bagna, Antonella Palmieri, Luca Antonio Ramenghi, Massimo Grassi, Mariella Magarotto, Federica Magnetti, Andrea Francavilla, Giuseppe Indolfi, Agnese Suppiej, Chiara Gentilomo, Roberta Restelli, Antonella Tufano, Daniela Tormene, Jacopo Norberto Pin, Clarissa Tona, Davide Meneghesso, Lidia Rota, Marta Conti, Giovanna Russo, Giulia Lorenzoni, Dario Gregori, Stefano Sartori, Paolo Simioni, Collaborators of the R.I.T.I. (Italian Registry of Infantile Thrombosis), Accorsi Patrizia, Aceto Gabriella, Agnoletti Gabriella, Agostini Manuela, Alfarano Angela, Altieri Elena, Amador Carolina, Antonelli Camilla, Arena Vittoria, Asta Francesca, Baggio Laura, Ballardini Elisa, Baracetti Margherita, Baraldi Eugenio, Barberis Laura, Barisone Elena, Basso Anne Letizia, Battajon Nadia, Bersani Iliana, Biddeci Giada, Biffanti Roberta, Bonardi Claudia Maria, Bonaudo Roberto, Boniver Clementina, Boscarol Gianluca, Bottino Roberto, Bravar Giulia, Brizzi Ilaria, Brolatti Noemi, Braguglia Annabella, Guaragni Brunetta, Bugin Samuela, Calvo Pier Luigi, Capasso Antonella, Capodiferro Donatella, Cappelleri Alessia, Cascarano Maria Teresa, Casellato Susanna, Casini Tommaso, Catarzi Serena, Cavaliere Elena, Cavicchiolo Maria Elena, Celestino Silvia, Celle Maria Elena, Centonze Nicola, Cerutti Alessia, Chakrokh Roksana, Offer Chiara, Chiodin Elisabetta, Chirico Gaetano, Chukhlantseva Natalia, Cifarelli Paola, Cinelli Giulia, Coinu Marisa, Colonna Clara, Comito Donatella, Corato Alessandra, Cordelli Duccio Maria, Crichiutti Giovanni, Cursio Ida, Dagri Arianna, De Maria Beatrice, Del Borrello Giovanni, Di Rienzo Francesca, Doglioni Nicoletta, Dolcemascolo Valentina, Dotta Andrea, Drigo Paola, Drimaco Pietro, Ellero Serena, Falcone Alessandra, Fantauzzi Ambra, Farinasso Daniela, Ferilli Michela, Festa Silvia, Fischer Maximilian, Foiadelli Thomas, Fotzi Ilaria, Francavilla Rosa, Freschi Paola, Gaffuri Marcella, Gallo Elena, Gamalero Lisa, Gandioli Claudia, Garuccio Sergio, Gentile Diletta, Ghionzoli Marco, Giliberti Paola, Greco Filippo, Guariento Chiara, Guidotti Isotta, Iodice Alessandro, Janes Augusta, Laghi Elena, Lampugnani Elisabetta, Lassandro Giuseppe, Laverda Anna Maria, Lazzerotti Alessandra, Lo Tartaro Meragliotta Patrizia, Lombardini Martina, Lorenzon Eleonora, Mainini Nicoletta, Massoud Michela, Materia Valeria, Mattera Raffaele, Mauro Isabella, Melani Federico, Meli Mariaclaudia, Messina Giovanni, Monticone Sonia, Moras Marzia, Negro Ilaria, Olzai Giorgio, Pancani Simone, Pandolfi Maria, Passariello Annalisa, Passarini Alice, Passone Eva, Pastorino Myriam, Pegoraro Veronica, Pennoni Serena, Perilongo Giorgio, Pozzessere Anna, Pruna Dario, Pusiol Anna, Putti Maria Caterina, Rabbone Ivana, Radicioni Maurizio, Renna Salvatore, Ricci Maria Luisa, Rimini Alessandro, Rivellini Sara, Rustioni Gianluca, Salvadori Sabrina, Santoiemma Valentina, Santoro Nicola, Schiavulli Michele, Sebellin Sofia, Sesta Michela, Soffiati Massimo, Sorbo Monica, Spanedda Giuseppina, Stangalini Valeria, Stasolla Salvatore, Tanzi Giorgia, Testa Tiziana, Teutonico Federica, Timpani Giuseppina, Toldo Irene, Trapani Sandra, Vaccari Roberto, Vecchi Marilena, Vento Giovanni, Veraldi Daniele, Villa Giovanna, Visintin Gianluca, Zambelloni Cesare, and Zellini Francesco

Subjects
thrombosis, stroke, children, pediatric, registry, thromboembolism, Pediatrics, RJ1-570
Abstract

IntroductionThrombotic events in neonates and children represent a rare although severe occurrence in view of the associated risk of mortality and sequelae. Quality evidence is limited in this field, and registry studies provide an essential base for research. The aim of this paper is to present the new Italian Registry of Infantile Thrombosis (RITI), set it into the scene of international thrombosis and stroke registries, and provide some insight on the challenges associated with registry management.MethodsWe present the detailed structure and content of the new RITI registry, a brief overview of its main data, and a reflection on its features, pitfalls and the main challenges related to its management.ResultsThe RITI, initially started in 2007 and officially re-launched in 2017 after structural modifications, is a non-interventional retrospective and prospective registry study collecting data on neonatal and pediatric patients (0–18 years) who experienced a systemic or cerebral thrombotic event in Italy. The RITI is managed by a multidisciplinary team with expertise in pediatric thrombosis, and participation is open to all Italian physicians, on a voluntary basis. The overall aim of the registry is to acquire new evidence to better characterize the population of children with thrombotic events and improve their management and outcome. 48 Italian pediatric and intensive care units are actively involved in the RITI, including 85 medical doctors from 16 Italian regions. A total of 1,001 neonates and children affected by cerebral or systemic thrombosis have been enrolled.DiscussionThe RITI is one of the largest available European registries of neonatal and pediatric thrombosis. National registries like the RITI represent a model for the study of rare conditions based on multidisciplinary and multicenter collaboration, aimed at overcoming the limitations due to small populations of patients, and creating a network of experts for patient referral and continuous education. Moreover, registry studies have a pivotal role in the research on pediatric thrombosis, due to the limited feasibility of high-quality studies. In our experience, the main critical stages, pitfalls and challenges in registry management include adequate registry designing, diffusion, data completeness and quality control.

Published
2023
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15. Italian report on RARE epilepsies (i‐RARE): A consensus on multidisciplinarity.

Author

Riva, Antonella, Coppola, Antonietta, Bisulli, Francesca, Verrotti, Alberto, Bagnasco, Irene, Elia, Maurizio, Darra, Francesca, Lattanzi, Simona, Meletti, Stefano, La Neve, Angela, Di Gennaro, Giancarlo, Brambilla, Isabella, Santoro, Katia, Prisco, Tommaso, Macari, Francesca, Gambardella, Antonio, di Bonaventura, Carlo, Balestrini, Simona, Marini, Carla, and Pruna, Dario

Subjects
PATIENT advocacy, SEIZURES (Medicine), PEOPLE with epilepsy, THERAPEUTICS, PHYSICIANS
Abstract

Objective: Rare and complex epilepsies encompass a diverse range of disorders characterized by seizures. We aimed to establish a consensus on key issues related to these conditions through collaboration among experienced neurologists, neuropediatricians, and patient advocacy representatives. Methods: Employing a modified Delphi method, a scientific board comprising 20 physicians and 4 patient advocacy representatives synthesized existing literature with their expertise to formulate statements on contentious topics. A final 32‐member expert panel, representing diverse regions of Italy, validated these statements through a two‐round voting process, with consensus defined as an average score ≥7. Results: Sixteen statements reached a consensus, emphasizing the necessity for epidemiological studies to ascertain the true prevalence of rare epilepsies. Etiology emerged as a crucial factor influencing therapeutic strategies and outcome prediction, with particular concern regarding prolonged and tonic–clonic seizures. The importance of early implementation of specific drugs and non‐pharmacological interventions in the treatment algorithm for developmental and epileptic encephalopathies (DEEs) was underscored. Multidisciplinary care involving experts with diverse skills was deemed essential, emphasizing non‐seizure outcomes in adolescence and adulthood. Significance: This national consensus underscores the imperative for personalized, comprehensive, and multidisciplinary management of rare epilepsies/DEEs. It advocates for increased research, particularly in epidemiology and therapeutic approaches, to inform clinical decision‐making and healthcare policies, ultimately enhancing patients' outcomes. Plain Language Summary: The modified Delphi method is broadly used to evaluate debated topics. In this work, we sought the consensus on integrated and social care in epilepsy management. Both representatives of high‐level epilepsy centers and patients' caregivers were directly involved. [ABSTRACT FROM AUTHOR]

Published
2024
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16. Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children

Author

Fetta, Anna, primary, Toni, Francesco, additional, Pettenuzzo, Ilaria, additional, Ricci, Emilia, additional, Rocca, Alessandro, additional, Gambi, Caterina, additional, Soliani, Luca, additional, Di Pisa, Veronica, additional, Martini, Silvia, additional, Sperti, Giacomo, additional, Cagnazzo, Valeria, additional, Accorsi, Patrizia, additional, Bartolini, Emanuele, additional, Battaglia, Domenica, additional, Bernardo, Pia, additional, Canevini, Maria Paola, additional, Ferrari, Anna Rita, additional, Giordano, Lucio, additional, Locatelli, Chiara, additional, Mancardi, Margherita, additional, Orsini, Alessandro, additional, Pippucci, Tommaso, additional, Pruna, Dario, additional, Rosati, Anna, additional, Suppiej, Agnese, additional, Tagliani, Sara, additional, Vaisfeld, Alessandro, additional, Vignoli, Aglaia, additional, Izumi, Kosuke, additional, Krantz, Ian, additional, and Cordelli, Duccio Maria, additional

Published
2024
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17. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Author

Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-González, Xilma R., Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S., and Rubboli, Guido

Published
2021
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18. A registry for Dravet syndrome: The Italian experience

Author

Balestrini, Simona, Doccini, Viola, Giometto, Sabrina, Lucenteforte, Ersilia, De Masi, Salvatore, Giarola, Elisa, Brambilla, Isabella, Pieroni, Federica, Perulli, Marco, Battaglia, Domenica Immacolata, Specchio, Nicola, Ragona, Francesca, Granata, Tiziana, Pellacani, Simona, Ferrari, Annarita, Marini, Carla, Matricardi, Sara, Cesaroni, Elisabetta, Giordano, Lucio, Accorsi, Patrizia, Sciruicchio, Vittorio, Tinuper, Paolo, Messana, Tullio, Russo, Angelo, Pruna, Dario, Nosadini, Margherita, De Giorgis, Valentina, Caputo, Davide, Pellegrin, Serena, Lo Barco, Tommaso, Darra, Francesca, Dalla Bernardina, Bernardo, Guerrini, Renzo, Battaglia, Domenica (ORCID:0000-0003-0491-4021), Balestrini, Simona, Doccini, Viola, Giometto, Sabrina, Lucenteforte, Ersilia, De Masi, Salvatore, Giarola, Elisa, Brambilla, Isabella, Pieroni, Federica, Perulli, Marco, Battaglia, Domenica Immacolata, Specchio, Nicola, Ragona, Francesca, Granata, Tiziana, Pellacani, Simona, Ferrari, Annarita, Marini, Carla, Matricardi, Sara, Cesaroni, Elisabetta, Giordano, Lucio, Accorsi, Patrizia, Sciruicchio, Vittorio, Tinuper, Paolo, Messana, Tullio, Russo, Angelo, Pruna, Dario, Nosadini, Margherita, De Giorgis, Valentina, Caputo, Davide, Pellegrin, Serena, Lo Barco, Tommaso, Darra, Francesca, Dalla Bernardina, Bernardo, Guerrini, Renzo, and Battaglia, Domenica (ORCID:0000-0003-0491-4021)

Abstract

ObjectivesWe describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to SCN1A mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools and framework of the integrative platform, the main characteristics emerging from the patient cohort included in the registry, with emphasis on demographic, clinical outcome, and mortality. MethodsStandardized data of enrolled pediatric and adult patients were collected in 24 Italian expert centers and regularly updated at least on a yearly basis. Patients were prospectively enrolled, at registry starting, but historical retrospective data were also included. ResultsAt present, 281 individuals with DS and a confirmed SCN1A mutation are included. Most patients have data available on epilepsy (n = 263) and their overall neurological condition (n = 255), based on at least one follow-up update. Median age at first clinical assessment was 2 years (IQR 0-9) while at last follow-up was 11 years (IQR 5-18.5). During the 7-year activity of the registry, five patients died resulting in a mortality rate of 1.84 per 1000-person-years. When analyzing clinical changes over the first 5-year follow-up, we observed a significant difference in cognitive function (P < 0.001), an increased prevalence of behavioral disorders including attention deficit (P < 0.001), a significant worsening of language (P = 0.001), and intellectual disability (P < 0.001). SignificanceThe Residras registry represents a large collection of standardized national data for the DS population. The registry platform relies on a shareable and interoperable framework, which promotes multicenter high-quality data collection. In the future, such integrated platform may represent an invaluable asset for easing access to cohorts of patients that may benefit from clinical trials with emerging novel therapies, for drug safety monitoring, and for delineating natural history. Its

Published
2023

19. Refractory absence seizures: An Italian multicenter retrospective study

Author

Franzoni, Emilio, Matricardi, Sara, Di Pisa, Veronica, Capovilla, Giuseppe, Romeo, Antonino, Tozzi, Elisabetta, Pruna, Dario, Salerno, Grazia Gabriella, Zamponi, Nelia, Accorsi, Patrizia, Giordano, Lucio, Coppola, Giangennaro, Cerminara, Caterina, Curatolo, Paolo, Nicita, Francesco, Spalice, Alberto, Grosso, Salvatore, Pavone, Piero, Striano, Pasquale, Parisi, Pasquale, Boni, Antonella, Gobbi, Giuseppe, Carotenuto, Marco, Esposito, Maria, Cottone, Carlo, and Verrotti, Alberto

Published
2015
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20. Paediatric anti-N-methyl-d-aspartate receptor encephalitis: The first Italian multicenter case series

Author

Sartori, Stefano, Nosadini, Margherita, Cesaroni, Elisabetta, Falsaperla, Raffaele, Capovilla, Giuseppe, Beccaria, Francesca, Mancardi, Maria Margherita, Santangelo, Giuseppe, Giunta, Leandra, Boniver, Clementina, Cantalupo, Gaetano, Cappellari, Alberto, Costa, Paola, Dalla Bernardina, Bernardo, Dilena, Robertino, Natali Sora, Maria Grazia, Pelizza, Maria Federica, Pruna, Dario, Serino, Domenico, Vanadia, Francesca, Vigevano, Federico, Zamponi, Nelia, Zanus, Caterina, Toldo, Irene, and Suppiej, Agnese

Published
2015
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21. An educational campaign about epilepsy among Italian primary school teachers. 2. The results of a focused training program

Author

De Simone, Roberto, Cerquiglini, Antonella, Vecchi, Marilena, Boniver, Clementina, Monti, Fabrizio, Ferlazzo, Edoardo, Gasparini, Sara, Baldassarri, Chiara, Cesaroni, Elisabetta, Stranci, Giuseppe, Elia, Maurizio, Severi, Sauro, Pizzanelli, Chiara, Ausserer, Harald, Montalenti, Elisa, Pieri, Ilaria, Germano, Michele, Cantisani, Teresa, Casellato, Susanna, Pruna, Dario, Mecarelli, Oriano, Messina, Paolo, Capovilla, Giuseppe, Michelucci, Roberto, Romeo, Antonino, and Beghi, Ettore

Published
2015
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22. Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy.

Author

Dell'Isola, Giovanni Battista, Fattorusso, Antonella, Pisani, Francesco, Mastrangelo, Mario, Cordelli, Duccio Maria, Pavone, Piero, Parisi, Pasquale, Ferretti, Alessandro, Operto, Francesca Felicia, Elia, Maurizio, Carotenuto, Marco, Pruna, Dario, Matricardi, Sara, Spezia, Elisabetta, Spalice, Alberto, Scorrano, Giovanna, Savasta, Salvatore, Prontera, Paolo, Di Cara, Giuseppe, and Fruttini, Daniela

Subjects
PERSONAL names, NEUROSCIENCES, CHILD psychiatry, CHILDREN'S health, NEUROPSYCHIATRY
Abstract

The Correction Notice in the Journal of Neurology addresses errors in the original article on CDKL5 deficiency-related neurodevelopmental disorders in Italy. The correction includes rectifying the structure of authors' given and family names, as well as updating the affiliations of some authors. The corrected version of the article lists the authors and their corrected information for reference. [Extracted from the article]

Published
2024
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26. Long-term follow-up in children with benign convulsions associated with gastroenteritis

Author

Verrotti, Alberto, Moavero, Romina, Vigevano, Federico, Cantonetti, Laura, Guerra, Azzurra, Spezia, Elisabetta, Tricarico, Antonella, Nanni, Giuliana, Agostinelli, Sergio, Chiarelli, Francesco, Parisi, Pasquale, Capovilla, Giuseppe, Beccaria, Francesca, Spalice, Alberto, Coppola, Giangennaro, Franzoni, Emilio, Gentile, Valentina, Casellato, Susanna, Veggiotti, Pierangelo, Malgesini, Sara, Crichiutti, Giovanni, Balestri, Paolo, Grosso, Salvatore, Zamponi, Nelia, Incorpora, Gemma, Savasta, Salvatore, Costa, Paola, Pruna, Dario, and Cusmai, Raffaella

Published
2014
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27. An educational campaign toward epilepsy among Italian primary school teachers: 1. Survey on knowledge and attitudes

Author

De Simone, Roberto, Lucibello, Simona, Ferrari, Alessandra, Vecchi, Marilena, de Palma, Luca, Monti, Fabrizio, Ferlazzo, Edoardo, Gasparini, Sara, Passarelli, Daniela, Lodi, Monica, Cesaroni, Elisabetta, Stranci, Giuseppe, Elia, Maurizio, Severi, Sauro, Pizzanelli, Chiara, Ausserer, Harald, Dordi, Benedetto, Montalenti, Elisa, Pieri, Ilaria, Galeone, Dante, Germano, Michele, Cantisani, Teresa, Casellato, Susanna, Pruna, Dario, Mecarelli, Oriano, Messina, Paolo, Capovilla, Giuseppe, Michelucci, Roberto, Romeo, Antonino, and Beghi, Ettore

Published
2014
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29. Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort

Author

Po', Chiara, Nosadini, Margherita, Zedde, Marialuisa, Pascarella, Rosario, Mirone, Giuseppe, Cicala, Domenico, Rosati, Anna, Cosi, Alessandra, Toldo, Irene, Colombatti, Raffaella, Martelli, Paola, Iodice, Alessandro, Accorsi, Patrizia, Giordano, Lucio, Savasta, Salvatore, Foiadelli, Thomas, Sanfilippo, Giuseppina, Lafe, Elvis, Thyrion, Federico Zappoli, Polonara, Gabriele, Campa, Serena, Raviglione, Federico, Scelsa, Barbara, Bova, Stefania Maria, Greco, Filippo, Cordelli, Duccio Maria, Cirillo, Luigi, Toni, Francesco, Baro, Valentina, Causin, Francesco, Frigo, Anna Chiara, Suppiej, Agnese, Sainati, Laura, Azzolina, Danila, Agostini, Manuela, Cesaroni, Elisabetta, De Carlo, Luigi, Di Rosa, Gabriella, Esposito, Giacomo, Grazian, Luisa, Morini, Giovanna, Nicita, Francesco, Operto, Francesca Felicia, Pruna, Dario, Ragazzi, Paola, Rollo, Massimo, Spalice, Alberto, Striano, Pasquale, Skabar, Aldo, Lanterna, Luigi Alberto, Carai, Andrea, Marras, Carlo Efisio, Manara, Renzo, Sartori, Stefano, Po', Chiara, Nosadini, Margherita, Zedde, Marialuisa, Pascarella, Rosario, Mirone, Giuseppe, Cicala, Domenico, Rosati, Anna, Cosi, Alessandra, Toldo, Irene, Colombatti, Raffaella, Martelli, Paola, Iodice, Alessandro, Accorsi, Patrizia, Giordano, Lucio, Savasta, Salvatore, Foiadelli, Thoma, Sanfilippo, Giuseppina, Lafe, Elvi, Thyrion, Federico Zappoli, Polonara, Gabriele, Campa, Serena, Raviglione, Federico, Scelsa, Barbara, Bova, Stefania Maria, Greco, Filippo, Cordelli, Duccio Maria, Cirillo, Luigi, Toni, Francesco, Baro, Valentina, Causin, Francesco, Frigo, Anna Chiara, Suppiej, Agnese, Sainati, Laura, Azzolina, Danila, Agostini, Manuela, Cesaroni, Elisabetta, De Carlo, Luigi, Di Rosa, Gabriella, Esposito, Giacomo, Grazian, Luisa, Morini, Giovanna, Nicita, Francesco, Operto, Francesca Felicia, Pruna, Dario, Ragazzi, Paola, Rollo, Massimo, Spalice, Alberto, Striano, Pasquale, Skabar, Aldo, Lanterna, Luigi Alberto, Carai, Andrea, Marras, Carlo Efisio, Manara, Renzo, and Sartori, Stefano

Subjects
arteriopathy, indirect revascularization, aspirin, moyamoya, cerebrovascular event, transient ischemic attack, Pediatrics, Perinatology and Child Health, cerebrovascular events, headache, stroke, NO
Abstract

BackgroundMoyamoya is a rare progressive cerebral arteriopathy, occurring as an isolated phenomenon (moyamoya disease, MMD) or associated with other conditions (moyamoya syndrome, MMS), responsible for 6–10% of all childhood strokes and transient ischemic attacks (TIAs).MethodsWe conducted a retrospective multicenter study on pediatric-onset MMD/MMS in Italy in order to characterize disease presentation, course, management, neuroradiology, and outcome in a European country.ResultsA total of 65 patients (34/65 women) with MMD (27/65) or MMS (38/65) were included. About 18% (12/65) of patients were asymptomatic and diagnosed incidentally during investigations performed for an underlying condition (incMMS), whereas 82% (53/65) of patients with MMD or MMS were diagnosed due to the presence of neurological symptoms (symptMMD/MMS). Of these latter, before diagnosis, 66% (43/65) of patients suffered from cerebrovascular events with or without other manifestations (ischemic stroke 42%, 27/65; TIA 32%, 21/65; and no hemorrhagic strokes), 18% (12/65) of them reported headache (in 4/12 headache was not associated with any other manifestation), and 26% (17/65) of them experienced multiple phenotypes (≥2 among: stroke/TIA/seizures/headache/others). Neuroradiology disclosed ≥1 ischemic lesion in 67% (39/58) of patients and posterior circulation involvement in 51% (30/58) of them. About 73% (47/64) of patients underwent surgery, and 69% (45/65) of them received aspirin, but after diagnosis, further stroke events occurred in 20% (12/61) of them, including operated patients (11%, 5/47). Between symptom onset and last follow-up, the overall patient/year incidence of stroke was 10.26% (IC 95% 7.58–13.88%). At last follow-up (median 4 years after diagnosis, range 0.5–15), 43% (26/61) of patients had motor deficits, 31% (19/61) of them had intellectual disability, 13% (8/61) of them had epilepsy, 11% (7/61) of them had behavioral problems, and 25% (13/52) of them had mRS > 2. The proportion of final mRS > 2 was significantly higher in patients with symptMMD/MMS than in patients with incMMS (p = 0.021). Onset age p = 0.0010 and p = 0.0071, respectively) and mRS > 2 at follow-up (p = 0.0106 and p = 0.0009, respectively).ConclusionsMoyamoya is a severe condition that may affect young children and frequently cause cerebrovascular events throughout the disease course, but may also manifest with multiple and non-cerebrovascular clinical phenotypes including headache (isolated or associated with other manifestations), seizures, and movement disorder. Younger onset age and stroke before diagnosis may associate with increased risk of worse outcome (final mRS > 2).

Published
2022

30. An Italian consensus on the management of Lennox-Gastaut syndrome

Author

Riva, Antonella, primary, Coppola, Antonietta, additional, Bonaventura, Carlo Di, additional, Elia, Maurizio, additional, Ferlazzo, Edoardo, additional, Gobbi, Giuseppe, additional, Marini, Carla, additional, Meletti, Stefano, additional, Romeo, Antonino, additional, Santoro, Katia, additional, Verrotti, Alberto, additional, Capovilla, Giuseppe, additional, Striano, Pasquale, additional, Aguglia, Umberto, additional, Bagnasco, Irene, additional, Bartolini, Emanuele, additional, Battaglia, Domenica, additional, Beccaria, Francesca, additional, Belcastro, Vincenzo, additional, Bernardo, Pia, additional, Bonanni, Paolo, additional, Boniver, Clementina, additional, Bonuccelli, Alice, additional, Briatore, Eleonora, additional, Brigo, Francesco, additional, Cesaroni, Elisabetta, additional, Coa, Roberta, additional, Costa, Cinzia, additional, D'Aniello, Alfredo, additional, De Giorgis, Valentina, additional, Gennaro, Giancarlo Di, additional, Ferrari, Anna Rita, additional, Marchese, Francesca, additional, Matricardi, Sara, additional, Messana, Tullio, additional, Morano, Alessandra, additional, Operto, Francesca Felicia, additional, Orsini, Alessandro, additional, Parmeggiani, Lucio, additional, Peruzzi, Cinzia, additional, Pruna, Dario, additional, Puligheddu, Monica, additional, Pulitano, Patrizia, additional, Ragona, Francesca, additional, Romigi, Andrea, additional, Rosati, Anna, additional, Rosati, Eleonora, additional, Russo, Angelo, additional, Sartori, Stefano, additional, Spagnoli, Carlotta, additional, Spanò, Maria, additional, Trabacca, Antonio, additional, Troisi, Serena, additional, Viri, Maurizio, additional, and Zucca, Claudio, additional

Published
2022
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32. Reflex myoclonic epilepsy in infancy: A multicenter clinical study

Author

Verrotti, Alberto, Matricardi, Sara, Capovilla, Giuseppe, D’Egidio, Claudia, Cusmai, Raffaella, Romeo, Antonino, Pruna, Dario, Pavone, Piero, Cappanera, Silvia, Granata, Tiziana, Gobbi, Giuseppe, Striano, Pasquale, Grosso, Salvatore, Parisi, Pasquale, Franzoni, Emilio, Striano, Salvatore, Spalice, Alberto, Marino, Raffaella, Vigevano, Federico, and Coppola, Giangennaro

Published
2013
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34. The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series

Author

Santangelo, Andrea, primary, Bartolini, Emanuele, additional, Nuzzi, Giulia, additional, Foiadelli, Thomas, additional, Michev, Alexandre, additional, Mina, Tommaso, additional, Trambusti, Irene, additional, Fichera, Valeria, additional, Bonuccelli, Alice, additional, Massimetti, Gabriele, additional, Peroni, Diego G., additional, De Marco, Emanuela, additional, Coccoli, Luca, additional, Luti, Laura, additional, Bernasconi, Sayla, additional, Nardi, Margherita, additional, Menconi, Maria Cristina, additional, Casazza, Gabriella, additional, Pruna, Dario, additional, Mura, Rosamaria, additional, Marra, Chiara, additional, Zama, Daniele, additional, Striano, Pasquale, additional, Cordelli, Duccio M., additional, Battini, Roberta, additional, and Orsini, Alessandro, additional

Published
2022
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35. Benign convulsions associated with mild gastroenteritis: A multicenter clinical study

Author

Verrotti, Alberto, Nanni, Giuliana, Agostinelli, Sergio, Parisi, Pasquale, Capovilla, Giuseppe, Beccaria, Francesca, Iannetti, Paola, Spalice, Alberto, Coppola, Giangennaro, Franzoni, Emilio, Gentile, Valentina, Casellato, Susanna, Veggiotti, Pierangelo, Malgesini, Sara, Crichiutti, Giovanni, Balestri, Paolo, Grosso, Salvatore, Zamponi, Nelia, Incorpora, Gemma, Savasta, Salvatore, Costa, Paola, Pruna, Dario, and Chiarelli, Francesco

Published
2011
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36. Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort

Author

Po', Chiara, primary, Nosadini, Margherita, additional, Zedde, Marialuisa, additional, Pascarella, Rosario, additional, Mirone, Giuseppe, additional, Cicala, Domenico, additional, Rosati, Anna, additional, Cosi, Alessandra, additional, Toldo, Irene, additional, Colombatti, Raffaella, additional, Martelli, Paola, additional, Iodice, Alessandro, additional, Accorsi, Patrizia, additional, Giordano, Lucio, additional, Savasta, Salvatore, additional, Foiadelli, Thomas, additional, Sanfilippo, Giuseppina, additional, Lafe, Elvis, additional, Thyrion, Federico Zappoli, additional, Polonara, Gabriele, additional, Campa, Serena, additional, Raviglione, Federico, additional, Scelsa, Barbara, additional, Bova, Stefania Maria, additional, Greco, Filippo, additional, Cordelli, Duccio Maria, additional, Cirillo, Luigi, additional, Toni, Francesco, additional, Baro, Valentina, additional, Causin, Francesco, additional, Frigo, Anna Chiara, additional, Suppiej, Agnese, additional, Sainati, Laura, additional, Azzolina, Danila, additional, Agostini, Manuela, additional, Cesaroni, Elisabetta, additional, De Carlo, Luigi, additional, Di Rosa, Gabriella, additional, Esposito, Giacomo, additional, Grazian, Luisa, additional, Morini, Giovanna, additional, Nicita, Francesco, additional, Operto, Francesca Felicia, additional, Pruna, Dario, additional, Ragazzi, Paola, additional, Rollo, Massimo, additional, Spalice, Alberto, additional, Striano, Pasquale, additional, Skabar, Aldo, additional, Lanterna, Luigi Alberto, additional, Carai, Andrea, additional, Marras, Carlo Efisio, additional, Manara, Renzo, additional, and Sartori, Stefano, additional

Published
2022
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37. Long-term outcome of epilepsy in patients with Prader–Willi syndrome

Author

Verrotti, Alberto, Cusmai, Raffaella, Laino, Daniela, Falsaperla, Raffaele, Margari, Lucia, Rizzo, Renata, Savasta, Salvatore, Grosso, Salvatore, Striano, Pasquale, Belcastro, Vincenzo, Franzoni, Emilio, Curatolo, Paolo, Giordano, Lucio, Freri, Elena, Matricardi, Sara, Pruna, Dario, Toldo, Irene, Tozzi, Elisabetta, Lobefalo, Lucio, Operto, Francesca, Altobelli, Emma, Chiarelli, Francesco, and Spalice, Alberto

Published
2015
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38. Cognitive, Behavioral, and Sensory Profile of Pallister–Killian Syndrome: A Prospective Study of 22 Individuals

Author

Fetta, Anna, primary, Soliani, Luca, additional, Trevisan, Alessia, additional, Pugliano, Rosa, additional, Ricci, Emilia, additional, Di Pisa, Veronica, additional, Pignataro, Veronica, additional, Angotti, Marida, additional, Rocca, Alessandro, additional, Salce, Bianca, additional, Mancardi, Maria Margherita, additional, Giordano, Lucio, additional, Pruna, Dario, additional, Parmeggiani, Antonia, additional, and Cordelli, Duccio Maria, additional

Published
2022
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39. Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study

Author

Fetta, Anna, primary, Di Pisa, Veronica, additional, Ruscelli, Martina, additional, Soliani, Luca, additional, Sperti, Giacomo, additional, Ubertiello, Sara, additional, Ricci, Emilia, additional, Mainieri, Greta, additional, Rocca, Alessandro, additional, Mancardi, Maria Margherita, additional, Giordano, Lucio, additional, Pruna, Dario, additional, Vignoli, Aglaia, additional, Provini, Federica, additional, and Cordelli, Duccio Maria, additional

Published
2021
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42. WISC‐IVintellectual profiles in Italian children with self‐limited epilepsy with centrotemporal spikes

Author

Zanaboni, Martina Paola, Pasca, Ludovica, Bova, Stefania Maria, Chiappedi, Matteo Alessio, Filippini, Melissa, Giordano, Lucio, Grumi, Serena, Micheletti, Serena, Operto, Francesca F., Pruna, Dario, Ragona, Francesca, Raviglione, Federico, Totaro, Martina, Varesio, Costanza, Vignoli, Aglaia, and De Giorgis, Valentina

Abstract

This study aimed to describe the intellectual profile based on the Wechsler Intelligence Scale for Children 4th edition (WISC‐IV) in children with self‐limited epilepsy with centrotemporal spikes (SeLECTS), with an attempt to define possible predictive epilepsy‐related variables of cognitive performance. The WISC‐IV was assessed in 161 children with SeLECTS and their cognitive profiles were compared to a matched sample of healthy control children. Children with SeLECTS performed within normal range across all indices, demonstrating particular strength based on the Perceptual Reasoning Index. Compared to healthy control children, we observed a significant difference in performance based on the Full Scale Intelligence Quotient, Verbal Comprehension Index and Processing Speed Index. Regarding epilepsy‐related variables, earlier onset of epilepsy, use of anti‐seizure medications, the presence of neurodevelopmental disorders, a higher frequency of seizures, and a longer treatment duration were associated with an overall lower level of performance. Children with SeLECTS performed within the average range for cognitive assessment based on the WISC‐IV, demonstrating that children had normal levels of global intelligence. However, compared to healthy control children, children with SeLECTS showed a slightly lower level of performance. Reasoning skills represented the relative strengths in children with SeLECTS. Predictors of intellectual performance in patients with SeLECTS include epilepsy‐related variables and neurodevelopmental comorbidities.

Published
2023
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43. Increased sensitivity of the neuronal nicotinic receptor alpha2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

Author

Aridon, Paolo, Marini, Carla, Di Resta, Chiara, Brilli, Elisa, De Fusco, Maurizio, Politi, Fausta, Parrini, Elena, Manfredi, Irene, Pisano, Tiziana, Pruna, Dario, Curia, Giulia, Cianchetti, Carlo, Pasqualetti, Massimo, Becchetti, Andrea, Guerrini, Renzo, and Casari, Giorgio

Subjects
Nicotinic receptors -- Research, Gene mutations -- Research, Epilepsy -- Genetic aspects, Genetic research, Biological sciences
Abstract

A clinical and molecular genetic study of the large pedigree segregating sleep-related epilepsy is performed where the seizures are associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking. The positional candidate neuronal cholinergic receptor alpha2 subunit gene (CHRNA2) is the third neuronal cholinergic receptor gene to be associated with familial sleep-related epilepsies and the CHRNA2 mutations are found to cause a more complex and finalized ictal behavior.

Published
2006

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