Correction: Ozone pollution as a possible trigger for multiple sclerosis in young people: the PEDIGREE study (Journal of Neurology, (2026), 273, 3, (172), 10.1007/s00415-026-13688-2) Roberto Bergamaschi, Ottavia Eleonora Ferraro, Enrico Pisoni, Marzia Fronza, Stefania Bova, Pietro Annovazzi, Marta Simone, Antonio Gallo, Agnese Suppiej, Roberta Lanzillo, Sarah Rasia, Angela Berardinelli, Valentina Torri Clerici, Lucia Moiola, Maurizio Viri, Stefano Sotgiu, Simona Malucchi, Alessandra Protti, Carlotta Canavese, Giacomo Lus, Luigi Maria Grimaldi, Marta Conti, Giovanna Borriello, Giovanna De Luca, Valentina Tomassini, Alberto Priori, Martina Tosi, Nicola Pomella, Andrea Corona, Alen Zollo, Maria Pia Amato, Eleonora Cocco, Maria Trojano, Filippo Martinelli-Boneschi, Eleonora Tavazzi, Cristina Montomoli, Sandra D’Alfonso, Angelo Ghezzi, Silvy Pilotto, Maura Pugliatti, and Journal of Neurology, 2026
Reducing Early-Life Smoke Exposure as a Preventive Strategy for Pediatric Multiple Sclerosis: Results from the PEDIGREE Study Silvy Pilotto, Angelo Ghezzi, Stefania Maria Bova, Marzia Fronza, Pietro Annovazzi, Marta Simone, Antonio Gallo, Agnese Suppiej, Roberta Lanzillo, Sarah Rasia, Angela Berardinelli, Valentina Torri Clerici, Lucia Moiola, Maurizio Viri, Stefano Sotgiu, Simona Malucchi, Alessandra Protti, Carlotta Canavese, Giacomo Lus, Luigi Grimaldi, Marta Zaffira Conti, Giovanna Borriello, Giovanna De Luca, Valentina Tomassini, Alberto Priori, Martina Tosi, Nicola Pomella, Andrea Corona, Alen Zollo, Maria Pia Amato, Eleonora Cocco, Maria Trojano, Filippo Martinelli-Boneschi, Sandra D’Alfonso, Roberto Bergamaschi, Maura Pugliatti, and Neurology and Therapy, 2026 INTRODUCTION: Assessing the environmental impact on multiple sclerosis (MS) is complex because of long disease latency and potential recall bias, especially for perinatal exposures. This study aimed to investigate the association between parental smoking and the development of pediatric MS (PedMS). METHODS: As part of the Italian multicenter PEDIGREE study, the PEQ-IT questionnaire was used for prospective data collection. We enrolled subjects under 18 years with PedMS (2013 Krupp criteria) and disease duration ≤ 5 years from onset, along with matched controls. RESULTS: The study included 114 PedMS cases and 121 controls. Female participants represented 77.2% of cases and 54.4% of controls, with a mean (SD) age of 16.8 (2.7) and 13.5 (4.9) years, respectively. The mean (SD) age at MS onset was 14.2 (2.6) years, and the median EDSS score was 1.0 (range 0-4.0). PedMS risk was higher in subjects with fathers who were current smokers (crude OR 1.94, 95% CI 1.10-3.40) or who smoked 3 months' pre-pregnancy (crude OR 1.79, 95% CI 1.03-3.11). The risk increased when both parents smoked (crude OR 2.03, 95% CI 1.12-3.68) and was highest when both smoked 3 months before pregnancy (crude OR 10.79, 95% CI 1.30-89.54), even after adjustments. No significant association was found with maternal smoking. CONCLUSION: Parental smoking, particularly paternal smoking current habit and before pregnancy, may increase the risk of PedMS. Promoting smoke-free behaviors among parents could therefore represent a feasible preventive approach to limit early-life environmental factors involved in disease susceptibility.
Lennox–Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International Workshop Antonella Riva, Gianluca D'Onofrio, Elisabetta Amadori, Alexis Arzimanoglou, Stéphane Auvin, Irene Bagnasco, Paola Barabino, Valentina Biagioli, Isabella Brambilla, Giuliana Cangemi, Antonietta Coppola, Antonella De Lillo, Carlo Di Bonaventura, Giancarlo Di Gennaro, Edoardo Ferlazzo, Antonio Gil‐Nagel, Giuseppe Gobbi, Simona Lattanzi, Gerhard Kluger, Günter Krämer, Maria Margherita Mancardi, Carlo Minetti, Lino Nobili, Elisa Paravati, Milka Pringsheim, Erika Rebessi, Antonino Romeo, Angelo Russo, Emilio Russo, Katia Santoro, Susanne Schubert‐Bast, Laura Siri, Jo Sourbron, Maria Stella Vari, Alberto Verrotti, Flavio Villani, Maurizio Viri, Celina von Stülpnagel, Nelia Zamponi, Federico Zara, Pasquale Striano Epilepsia, 2026 Lennox–Gastaut syndrome (LGS) is one of the most severe, yet one of the most discussed, childhood‐onset developmental and epileptic encephalopathies (DEEs). Dissent among epileptologists on the definition and minimum set of electroclinical features derives from the high etiological heterogeneity within the syndrome, which could make its prevalence overestimated. However, in recent years, our diagnostic strategies, including both high‐resolution magnetic resonance imaging and next‐generation sequencing techniques, have enabled us to disentangle many cases previously classified as “idiopathic.” In addition, some electroencephalographic and circulating biomarkers have been identified that could predict disease progression and treatment response if confirmed in larger patient populations. As our diagnostic capacity increases, so do our treatment strategies. Although progress has been made, the implementation of better clinical trial designs, individualized treatments, and therapies that address the genetic roots of the disease remains necessary in clinical practice. A lot is being done in this direction, thanks to the involvement of families and the creation of international networks, such as the ERNs, which are rapidly promoting collaboration among highly specialized centers and the establishment of disease registries to shed light on the natural history of LGS. Yet, many unmet needs still afflict patients and their families, including uncertainties arising from the transition process and a lack of administrative support and comprehensive care as patients transition into adulthood. This article summarizes these key challenges in diagnosing, treating, and caring for patients with LGS, as well as the roadmap to enhanced future care discussed during the international LGS meeting held in Genoa.
Reduced Childhood Outdoor Exposure Raises Pediatric Multiple Sclerosis (PedMS) Risk Silvy Pilotto, Angelo Ghezzi, Stefania Maria Bova, Marzia Fronza, Pietro Annovazzi, Marta Simone, Antonio Gallo, Agnese Suppiej, Roberta Lanzillo, Sarah Rasia, Angela Berardinelli, Valentina Torri Clerici, Lucia Moiola, Maurizio Viri, Stefano Sotgiu, Simona Malucchi, Alessandra Protti, Carlotta Canavese, Giacomo Lus, Luigi M. E. Grimaldi, Marta Zaffira Conti, Giovanna Borriello, Giovanna De Luca, Valentina Tomassini, Alberto Priori, Martina Tosi, Nicola Pomella, Andrea Corona, Alen Zollo, Maria Pia Amato, Eleonora Cocco, Maria Trojano, Filippo Martinelli-Boneschi, Sandra D’Alfonso, Roberto Bergamaschi, Maura Pugliatti, and the PEDIGREE Study Group Neurology and Therapy, 2026 INTRODUCTION: Sun exposure may influence MS susceptibility, but evidence in pediatric-onset MS (PedMS) is limited. We examined whether reduced early-childhood outdoor time (a proxy for lower sun exposure) is associated with PedMS risk. METHODS: In the Italian multicenter PEDIGREE Study, environmental data were collected using the PEQ-IT questionnaire. We enrolled individuals < 18 years with PedMS and disease duration ≤ 5 years and controls without CNS inflammatory disorders. Outdoor time was reported by season and age (0-1, 1-2, 3-5 years); reduced activity was defined as < 60 min/week. RESULTS: We included 114 PedMS cases and 121 controls. Cases were 77.2% female; mean (SD) age 16.8 (2.7) years; mean (SD) age at onset 14.2 (2.6) years; median EDSS 1.0 (range 0-4.0). Associations were strongest in winter: reduced outdoor time was associated with higher odds of PedMS in the first year (adjOR 3.02, 95%CI 1.50-6.08), ages 1-2 (adjOR 2.72, 95%CI 1.45-5.09), and ages 3-5 (adjOR 2.66, 95%CI 1.40-5.07). Across ages 0-5, low winter outdoor activity remained strongly associated (adjOR 4.30, 95%CI 1.82-10.17). Other seasons showed weaker but overall significant trends. CONCLUSION: Limited early-childhood outdoor activity may be associated with increased PedMS risk; larger longitudinal studies are needed.
A narrative review of genetic and environmental factors and risk for multiple sclerosis. The design of the Italian multicentric PEDIGREE study Angelo Ghezzi, Sandra D’Alfonso, Maura Pugliatti, Silvy Pilotto, Martina Tosi, Andrea Corona, Alen Zollo, Nicola Pomella, Maria Pia Amato, Eleonora Cocco, Maria Trojano, Roberto Bergamaschi, Filippo Martinelli-Boneschi, , Martina Tosi, Nicola Pomella, Maurizio Viri, Amanda Papa, Fabio Brustia, Domizia Vecchio, Eleonora Cocco, Gabriella Spinicci, Maria Fronza, Maria Rita Murru, Valentina Fadda, Filippo Martinelli Boneschi, Alen Zollo, Andrea Corona, Alessandra Mingione, Maria Trojano, Pietro Iaffaldano, Damiano Paolicelli, Alessia Manni, Marta Simone, Maria Pia Amato, Emilio Portaccio, Camilla Masciulli, Giuseppe Santangelo, Antonio Marino, Andrea Santangelo, Sarah Rasia, Ruggero Capra, Lucia Moiola, Chiara Zanetta, Federica Esposito, Vincenzo Brescia Morra, Roberta Lanzillo, Simona Malucchi, Martina Borghi, Paola Valentino, Gioacchino Tedeschi, Antonio Gallo, Alvino Bisecco, Roberto Bergamaschi, Stefano Parravicini, Pietro Annovazzi, Mattia Pozzato, Patrizia Carta, Agnese Suppiej, Valentina Liliana Adriana Torri Clerici, Alessandra Tozzo, Alessandra Protti, Lorenzo Saraceno, Carlo Pozzilli, Viola Baione, Giorgia DAmbrosi, Stefano Sotgiu, Alessandra Carta, Marta Zaffira Conti, Marta Radaelli, Stefania Maria Bova, Arianna Gadda, Valentina Tomassini, Giovanna De Luca, Luigi Maria Edoardo Grimaldi, Oscar Oddo, Francesco Patti, Luca Maria, Chisari Clara, Toscano Simona, Finocchiaro Chiara, Giacomo Lus, Marcella Coletta, Carlotta Canavese, Angela Berardinelli, Sara Fusco, Girolama Alessandra Marfia, Carolina Gabri Nicoletti, Doriana Landi, Salvatore Cottone, Maura Pugliatti, Silvy Pilotto, Caterina Ferri, Michele Laudisi, Eleonora Baldi Neurological Sciences, 2025
Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders Simona Mellone, Alice Spano, Denise Vurchio, Giulia Borgonovi, Alessandro Ugonotti, Giulia Paglino, Alba Bianco, Sara Ronzani, Maurizio Sciancalepore, Flavia Prodam, Amanda Papa, Maurizio Viri, Umberto Dianzani, Mara Giordano Frontiers in Genetics, 2025 IntroductionBalanced chromosomal abnormalities (BCAs) are structural variations that can underlie a wide spectrum of neurodevelopmental disorders, often remaining undetected by conventional diagnostic approaches. Whole-genome sequencing (WGS) allows for base-pair resolution of structural variants across the entire genome, making it a powerful tool to detect cryptic chromosomal rearrangements and refine breakpoint mapping. RNA sequencing (RNA-Seq), by enabling the detection of gene expression changes and fusion transcripts, provides complementary functional insights into the consequences of genomic alterations. This study integrated WGS and RNA-Seq to precisely characterize the breakpoints and assess the functional impact of de novo BCAs in two unsolved cases of Neurodevelopmental Disorders.Materials and methodsShort read WGS was used to identify the chromosomal breakpoints and gene disruptions caused by BCAs. RNA-Seq on blood RNA was employed to detect differential gene expression and potential fusion transcripts of disrupted genes.ResultsIn the first case, the inversion inv(8) (p11.2q13) disrupted two genes at the breakpoints, namely, CHD7 and SLC20A2. These genes are in opposite orientations, and the inversion realigned them in the same direction, generating two novel fusion genes. Disruption of CHD7 confirmed the suspected diagnosis of CHARGE syndrome. The interruption of SLC20A2, commonly associated with neurological symptoms, prompted further clinical evaluation. RNA-Seq identified in-frame fusion transcripts from the chimeric genes in the blood, suggesting a potential deleterious phenotypic effect. In the second case, WGS revealed a balanced translocation t(17; 22) (q25; q13) that disrupted EP300 at 22q25, confirming Rubinstein-Taybi syndrome. The concurrent disruption of RBFOX3 at 17q13 suggested additional neurological implications, particularly related to epilepsy. Transcriptomic analysis demonstrated the monoallelic and significantly reduced expression of EP300.ConclusionThese findings highlight the crucial role of WGS in identifying disease-associated BCAs and underscore the complementary value of RNA-Seq in assessing their functional consequences. This integrated approach enhanced diagnostic accuracy and clinical management, paving the way for more comprehensive and personalized care in these two patients.
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing Antonietta Coppola, S. Krithika, Michele Iacomino, Dheeraj Bobbili, Simona Balestrini, Irene Bagnasco, Leonilda Bilo, Daniela Buti, Susanna Casellato, Claudia Cuccurullo, Edoardo Ferlazzo, Costin Leu, Lucio Giordano, Giuseppe Gobbi, Laura Hernandez‐Hernandez, Nick Lench, Helena Martins, Stefano Meletti, Tullio Messana, Vincenzo Nigro, Michele Pinelli, Tommaso Pippucci, Ravishankara Bellampalli, Barbara Salis, Vito Sofia, Pasquale Striano, Salvatore Striano, Laura Tassi, Aglaia Vignoli, Anna Elisabetta Vaudano, Maurizio Viri, Ingrid E. Scheffer, Patrick May, Federico Zara, Sanjay M. Sisodiya Epilepsia, 2024 ObjectiveEpilepsy with eyelid myoclonia (EEM) spectrum is a generalized form of epilepsy characterized by eyelid myoclonia with or without absences, eye closure‐induced seizures with electroencephalographic paroxysms, and photosensitivity. Based on the specific clinical features, age at onset, and familial occurrence, a genetic cause has been postulated. Pathogenic variants in CHD2, SYNGAP1, NEXMIF, RORB, and GABRA1 have been reported in individuals with photosensitivity and eyelid myoclonia, but whether other genes are also involved, or a single gene is uniquely linked with EEM, or its subtypes, is not yet known. We aimed to dissect the genetic etiology of EEM.MethodsWe studied a cohort of 105 individuals by using whole exome sequencing. Individuals were divided into two groups: EEM− (isolated EEM) and EEM+ (EEM accompanied by intellectual disability [ID] or any other neurodevelopmental/psychiatric disorder).ResultsWe identified nine variants classified as pathogenic/likely pathogenic in the entire cohort (8.57%); among these, eight (five in CHD2, one in NEXMIF, one in SYNGAP1, and one in TRIM8) were found in the EEM+ subcohort (28.57%). Only one variant (IFIH1) was found in the EEM− subcohort (1.29%); however, because the phenotype of the proband did not fit with published data, additional evidence is needed before considering IFIH1 variants and EEM− an established association. Burden analysis did not identify any single burdened gene or gene set.SignificanceOur results suggest that for EEM, as for many other epilepsies, the identification of a genetic cause is more likely with comorbid ID and/or other neurodevelopmental disorders. Pathogenic variants were mostly found in CHD2, and the association of CHD2 with EEM+ can now be considered a reasonable gene–disease association. We provide further evidence to strengthen the association of EEM+ with NEXMIF and SYNGAP1. Possible new associations between EEM+ and TRIM8, and EEM− and IFIH1, are also reported. Although we provide robust evidence for gene variants associated with EEM+, the core genetic etiology of EEM− remains to be elucidated.
Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia Emanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, Alessandra Morano, Antonella Riva, Roberto H. Caraballo, Loretta Giuliano, Tülay Yilmaz, Eleni Panagiotakaki, Francesca F. Operto, Beatriz Gonzalez Giraldez, Simona Balestrini, Katri Silvennoinen, Sara Casciato, Marion Comajuan, Francesco Fortunato, Anna T. Giallonardo, Rimma Gamirova, Antonietta Coppola, Giancarlo Di Gennaro, Angelo Labate, Vito Sofia, Gerhard J. Kluger, Antonio Gambardella, Dorothee Kasteleijn‐Nolst Trenite, Betul Baykan, Sanjay M. Sisodiya, Alexis Arzimanoglou, Pasquale Striano, Carlo Di Bonaventura, Giacomo Fisco, Stefano Meletti, Natalia Liukshina, Tatiana Tomenko, Giuseppe Gobbi, Daniela Buti, Susanna Casellato, Salvatore Striano, Tullio Messana, Lucio Giordano, Edoardo Ferlazzo, Aglaia Vignoli, Maurizio Viri, Irene Bagnasco, Nerses Bebek, Gunes Altıokka‐Uzun, and Epilepsia, 2023 Although a striking female preponderance has been consistently reported in epilepsy with eyelid myoclonia (EEM), no study has specifically explored the variability of clinical presentation according to sex in this syndrome. Here, we aimed to investigate sex-specific electroclinical differences and prognostic determinants in EEM. Data from 267 EEM patients were retrospectively analyzed by the EEM study group, and a dedicated multivariable logistic regression analysis was developed separately for each sex. We found that females with EEM showed a significantly higher rate of persistence of photosensitivity and eye closure sensitivity at the last visit, along with a higher prevalence of migraine with aura, whereas males with EEM presented a higher rate of borderline intellectual functioning/intellectual disability. In female patients, multivariable logistic regression analysis revealed age at epilepsy onset, eyelid myoclonia status epilepticus, psychiatric comorbidities and catamenial seizures as significant predictors of drug resistance. In male patients, a history of febrile seizures was the only predictor of drug resistance. Hence, our study reveals sex-specific differences both in terms of electroclinical features and prognostic factors. Our findings support the importance of a sex-based personalized approach in epilepsy care and research, especially in genetic generalized epilepsies.
Spectrum of epilepsy with eyelid myoclonia: Delineation of disease subtypes from a large multicenter study Emanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, Antonella Riva, Roberto Horacio Caraballo, Alessandra Morano, Loretta Giuliano, Tülay Yilmaz, Eleni Panagiotakaki, Francesca F. Operto, Beatriz Gonzalez Giraldez, Simona Balestrini, Katri Silvennoinen, Sara Casciato, Marion Comajuan, Francesco Fortunato, Anna Teresa Giallonardo, Rimma Gamirova, Antonietta Coppola, Giancarlo Di Gennaro, Angelo Labate, Vito Sofia, Gerhard Josef Kluger, Antonio Gambardella, Dorothee G. A. Kasteleijn‐NolstTrenite, Betul Baykan, Sanjay M. Sisodiya, Alexis Arzimanoglou, Pasquale Striano, Carlo Di Bonaventura, Giacomo Fisco, Stefano Meletti, Natalia Liukshina, Tatiana Tomenko, Giuseppe Gobbi, Daniela Buti, Susanna Casellato, Salvatore Striano, Tullio Messana, Lucio Giordano, Edoardo Ferlazzo, Aglaia Vignoli, Maurizio Viri, Irene Bagnasco, Nerses Bebek, Gunes Altıokka‐Uzun, and Epilepsia, 2023
Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus Antonella Riva, Elisabetta Amadori, Maria Stella Vari, Alberto Spalice, Vincenzo Belcastro, Maurizio Viri, Donatella Capodiferro, Antonino Romeo, Alberto Verrotti, Maria Francesca Aiello, Irene Bagnasco, Pier Antonio Battistella, Stefania Bergamoni, Benedetta Boldrini, Pasquale Bratta, Andrea Brusaferro, Mario Brusco, Beatrice Burchiani, Elisa Burdino, Beatrice Cardinali, Morena Cassani, Elena Cavalli, Anna Cavallini, Maria Cordelli Duccio, Gaetano D’agata, Giovanna Di Corcia, Gianluca D’onofrio, Giulia Fagiolari, Antonella Fattorusso, Matteo Felicioni, Federica Gaiotti, Cristina Galati, Luisa Gasola, Giuseppina Giaquinto, Chiara Gizzi, Domenico Leonardo Grasso, Chiara Isidori, Maria Teresa Marcucci, Valentina Mazzoni, Elisabetta Mencaroni, Gianluca Monacelli, Francesco Nicita, Alessandro Orsini, Annamaria Pellegrino, Cinzia Peruzzi, Gianluca Piccolo, Ilaria Pistola, Giovanni Prezioso, Patrizia Pulitano, Vincenzo Raieli, Marina Saladino, Annamaria Sapuppo, Rossella Sica, Carlotta Spagnoli, Maria Tagliente, Giorgia Tascini, Gaetano Terrone, Eleonora Tulli, Valerio Vinti, Pasquale Striano, and Italian Journal of Pediatrics, 2022
EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome Silvia Masnada, Enrico Alfei, Manuela Formica, Roberto Previtali, Patrizia Accorsi, Filippo Arrigoni, Paolo Bonanni, Renato Borgatti, Francesca Darra, Carlo Fusco, Valentina De Giorgis, Lucio Giordano, Francesca La Briola, Simona Orcesi, Elisa Osanni, Cecilia Parazzini, Lorenzo Pinelli, Erika Rebessi, Romina Romaniello, Antonino Romeo, Carlotta Spagnoli, Christian Uebler, Costanza Varesio, Maurizio Viri, Claudio Zucca, Anna Pichiecchio, Pierangelo Veggiotti Clinical Neurophysiology, 2022
An Italian consensus on the management of Lennox-Gastaut syndrome Antonella Riva, Antonietta Coppola, Carlo Di Bonaventura, Maurizio Elia, Edoardo Ferlazzo, Giuseppe Gobbi, Carla Marini, Stefano Meletti, Antonino Romeo, Katia Santoro, Alberto Verrotti, Giuseppe Capovilla, Pasquale Striano, Umberto Aguglia, Irene Bagnasco, Emanuele Bartolini, Domenica Battaglia, Francesca Beccaria, Vincenzo Belcastro, Pia Bernardo, Paolo Bonanni, Clementina Boniver, Alice Bonuccelli, Eleonora Briatore, Francesco Brigo, Elisabetta Cesaroni, Roberta Coa, Cinzia Costa, Alfredo D'Aniello, Valentina De Giorgis, Giancarlo Di Gennaro, Anna Rita Ferrari, Francesca Marchese, Sara Matricardi, Tullio Messana, Alessandra Morano, Francesca Felicia Operto, Alessandro Orsini, Lucio Parmeggiani, Cinzia Peruzzi, Dario Pruna, Monica Puligheddu, Patrizia Pulitano, Francesca Ragona, Andrea Romigi, Anna Rosati, Eleonora Rosati, Angelo Russo, Stefano Sartori, Carlotta Spagnoli, Maria Spanò, Antonio Trabacca, Serena Troisi, Maurizio Viri, Claudio Zucca Seizure, 2022
A nationwide study on Sydenham's chorea: Clinical features, treatment and prognostic factors: A multicenter cohort study on Sydenham's chorea Alessandro Orsini, Thomas Foiadelli, Mariasole Magistrali, Niccolò Carli, Irene Bagnasco, Patrizia Dassi, Alberto Verrotti, Daniele Marcotulli, Carlotta Canavese, Francesco Nicita, Alessandro Capuano, Chiara Marra, Anna Fetta, Margherita Nosadini, Stefano Sartori, Amanda Papa, Maurizio Viri, Filippo Greco, Piero Pavone, Gabriele Simonini, Sara Matricardi, Sabrina Siquilini, Francesca Marchese, Elisa De Grandis, Bernadette Marrè Brunenghi, Clara Malattia, Francesco Bassanese, Patrizia Bergonzini, Alice Bonuccelli, Rita Consolini, Gian Luigi Marseglia, Diego Peroni, Pasquale Striano, Duccio Cordelli, Salvatore Savasta European Journal of Paediatric Neurology, 2022
Comorbidities in patients with epilepsy: Frequency, mechanisms and effects on long-term outcome Giorgia Giussani, Elisa Bianchi, Simone Beretta, Davide Carone, Jacopo C. DiFrancesco, Andrea Stabile, Clara Zanchi, Marta Pirovano, Claudia Trentini, Giada Padovano, Matteo Colombo, Diletta Cereda, Lorenzo Tinti, Sofia Scanziani, Sara Gasparini, Graziella Bogliun, Carlo Ferrarese, Ettore Beghi, A Romeo, M Viri, L Specchio, M Trivisano, O Mecarelli, A Zarabla, G Capovilla, F Beccaria, F Sasanelli, CA Galimberti, E Tartara, N Zamponi, S Cappanera, U Aguglia, E Ferlazzo, A La Neve, C Luisi, G Pontrelli, AT Cantisani, G De Maria, Y Albanese, and Epilepsia, 2021
Consensus protocol for EEG and amplitude-integrated EEG assessment and monitoring in neonates Robertino Dilena, Federico Raviglione, Gaetano Cantalupo, Duccio M. Cordelli, Paola De Liso, Matteo Di Capua, Raffaele Falsaperla, Fabrizio Ferrari, Monica Fumagalli, Silvia Lori, Agnese Suppiej, Laura Tadini, Bernardo Dalla Bernardina, Massimo Mastrangelo, Francesco Pisani Clinical Neurophysiology, 2021
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings Valentina De Giorgis, Costanza Varesio, Maurizio Viri, Lucio Giordano, Roberta La Piana, Davide Tonduti, Federico Roncarolo, Silvia Masnada, Anna Pichiecchio, Pierangelo Veggiotti, Elisa Fazzi, Simona Orcesi, Luisa Chiapparini, Micaela De Simone, Jessica Galli, Francesco Gavazzi, Cecilia Parazzini, Lorenzo Pinelli Seizure, 2021
Anakinra usage in febrile infection related epilepsy syndrome: an international cohort Yi‐Chen Lai, Eyal Muscal, Elizabeth Wells, Nikita Shukla, Krista Eschbach, Ki Hyeong Lee, Marios Kaliakatsos, Nevedita Desai, Ronny Wickström, Maurizio Viri, Elena Freri, Tiziana Granata, Srishti Nangia, Robertino Dilena, Andreas Brunklaus, Mark S. Wainwright, Mark P. Gorman, Coral M. Stredny, Abdurhman Asiri, Khalid Hundallah, Asif Doja, Eric Payne, Elaine Wirrell, Sookyong Koh, Jessica L. Carpenter, James Riviello Annals of Clinical and Translational Neurology, 2020
Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis Margherita Nosadini, Tiziana Granata, Sara Matricardi, Elena Freri, Francesca Ragona, Laura Papetti, Agnese Suppiej, Massimiliano Valeriani, Stefano Sartori, Alice Bonuccelli, Francesca Beccaria, Susanne Buechner, Silvia Buratti, Gaetano Cantalupo, Alberto Cappellari, Susanna Casellato, Elisabetta Cesaroni, Rolando Cimaz, Duccio Maria Cordelli, Paola Costa, Silvia Dell’Avvento, Robertino Dilena, Raffaele Falsaperla, Thomas Foiadelli, Anna Chiara Frigo, Lucia Fusco, Antonella Giacobbe, Melania Giannotta, Luisa Grazian, Maria Cristina Maggio, Maria Margherita Mancardi, Marta Melis, Maria Grazia Natali Sora, Alessandro Orsini, Antonella Petruzzellis, Antonella Pini, Dario Pruna, Giuseppe Santangelo, Salvatore Savasta, Maria Cristina Scaduto, Domenico Serino, Delia Simula, Roberta Solazzi, Stefano Sotgiu, Alessandra Splendiani, Irene Toldo, Federico Vigevano, Maurizio Viri, Paola Visconti, Nelia Zamponi, Caterina Zanus, Marco Zoccarato, Luigi Zuliani, and Developmental Medicine and Child Neurology, 2019
STXBP1 encephalopathy Hannah Stamberger, Marina Nikanorova, Marjolein H. Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoit, Mauro Budetta, Almuth Caliebe, Gaetano Cantalupo, Giuseppe Capovilla, Gianluca Casara, Carolina Courage, Marie Deprez, Anne Destrée, Robertino Dilena, Corrie E. Erasmus, Madeleine Fannemel, Roar Fjær, Lucio Giordano, Katherine L. Helbig, Henrike O. Heyne, Joerg Klepper, Gerhard J. Kluger, Damien Lederer, Monica Lodi, Oliver Maier, Andreas Merkenschlager, Nina Michelberger, Carlo Minetti, Hiltrud Muhle, Judith Phalin, Keri Ramsey, Antonino Romeo, Jens Schallner, Ina Schanze, Marwan Shinawi, Kristel Sleegers, Katalin Sterbova, Steffen Syrbe, Monica Traverso, Andreas Tzschach, Peter Uldall, Rudy Van Coster, Helene Verhelst, Maurizio Viri, Susan Winter, Markus Wolff, Martin Zenker, Leonardo Zoccante, Peter De Jonghe, Ingo Helbig, Pasquale Striano, Johannes R. Lemke, Rikke S. Møller, Sarah Weckhuysen Neurology, 2016
Coexistence of Childhood Absence Epilepsy (CAE) and Benign Focal Epilepsy: Two case reports Bollettino Lega Italiana Contro L Epilessia, 2013
Looking for prescription of Hemp Oil, Omega 6 and Omega 3 in children with drug-resistant epilepsy Bollettino Lega Italiana Contro L Epilessia, 2013
Lacosamide in pediatric and adult patients: Comparison of efficacy and safety Alberto Verrotti, Giulia Loiacono, Antonella Pizzolorusso, Pasquale Parisi, Oliviero Bruni, Anna Luchetti, Nelia Zamponi, Silvia Cappanera, Salvatore Grosso, Gerhard Kluger, Christine Janello, Emilio Franzoni, Maurizio Elia, Alberto Spalice, Giangennaro Coppola, Pasquale Striano, Piero Pavone, Salvatore Savasta, Maurizio Viri, Antonino Romeo, Paolo Aloisi, Giuseppe Gobbi, Alessandro Ferretti, Raffaella Cusmai, Paolo Curatolo Seizure, 2013
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance Federico Zara, Nicola Specchio, Pasquale Striano, Angela Robbiano, Elena Gennaro, Roberta Paravidino, Nicola Vanni, Francesca Beccaria, Giuseppe Capovilla, Amedeo Bianchi, Lorella Caffi, Viviana Cardilli, Francesca Darra, Bernardo Dalla Bernardina, Lucia Fusco, Roberto Gaggero, Lucio Giordano, Renzo Guerrini, Gemma Incorpora, Massimo Mastrangelo, Luigina Spaccini, Anna Maria Laverda, Marilena Vecchi, Francesca Vanadia, Pierangelo Veggiotti, Maurizio Viri, Guya Occhi, Mauro Budetta, Maurizio Taglialatela, Domenico A. Coviello, Federico Vigevano, Carlo Minetti Epilepsia, 2013
Seizures and EEG patterns in Pallister-Killian syndrome: 13 New Italian patients Lucio Giordano, Maurizio Viri, Renato Borgatti, Monica Lodi, Patrizia Accorsi, Francesca Faravelli, Maria Chiara Ferretti, Rita Grasso, Luigi Memo, Silvia Prola, Dario Pruna, Margherita Santucci, Salvatore Savasta, Alberto Verrotti, Antonino Romeo European Journal of Paediatric Neurology, 2012
PRRT2 Mutations are the major cause of benign familial infantile seizures Julian Schubert, Roberta Paravidino, Felicitas Becker, Andrea Berger, Nerses Bebek, Amedeo Bianchi, Knut Brockmann, Giuseppe Capovilla, Bernardo Dalla Bernardina, Yukio Fukuyama, Georg F. Hoffmann, Karin Jurkat-Rott, Anna-Kaisa Anttonen, Gerhard Kurlemann, Anna-Elina Lehesjoki, Frank Lehmann-Horn, Massimo Mastrangelo, Ulrike Mause, Stephan Müller, Bernd Neubauer, Burkhard Püst, Dietz Rating, Angela Robbiano, Susanne Ruf, Christopher Schroeder, Andreas Seidel, Nicola Specchio, Ulrich Stephani, Pasquale Striano, Jens Teichler, Dilsad Turkdogan, Federico Vigevano, Maurizio Viri, Peter Bauer, Federico Zara, Holger Lerche, Yvonne G. Weber Human Mutation, 2012
Seizures and EEG pattern in Kabuki syndrome Monica Lodi, Rosanna Chifari, Cecilia Parazzini, Maurizio Viri, Francesca Beccaria, Maria Elena Lorenzetti, Marta Meloni, Giuseppe Capovilla, Antonino Romeo Brain and Development, 2010
A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome) Pasquale Striano, Vito Sofia, Giuseppe Capovilla, Guido Rubboli, Carlo Di Bonaventura, Antonietta Coppola, Giuseppina Vitale, Luis Fontanillas, Anna Teresa Giallonardo, Roberto Biondi, Antonino Romeo, Maurizio Viri, Federico Zara, Salvatore Striano Epilepsia, 2008
An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy P. Striano, A. Coppola, M. Pezzella, C. Ciampa, N. Specchio, F. Ragona, M. M. Mancardi, E. Gennaro, F. Beccaria, G. Capovilla, P. Rasmini, D. Besana, G. G. Coppola, M. Elia, T. Granata, M. Vecchi, F. Vigevano, M. Viri, R. Gaggero, S. Striano, F. Zara Neurology, 2007
Linkage analysis and disease models in benign familial infantile seizures: A study of 16 families Pasquale Striano, Maria Luisa Lispi, Elena Gennaro, Francesca Madia, Monica Traverso, Laura Bordo, Paolo Aridon, Filippo Martinelli Boneschi, Baldassare Barone, Bernardo dalla Bernardina, Amedeo Bianchi, Giuseppe Capovilla, Pasquale De Marco, Olivier Dulac, Roberto Gaggero, Antonio Gambardella, Rima Nabbout, Jean‐François Prud'homme, Ruth Day, Francesca Vanadia, Marilena Vecchi, Pierangelo Veggiotti, Federico Vigevano, Maurizio Viri, Carlo Minetti, Federico Zara Epilepsia, 2006
Late-onset spasms: Clinical and video polygraphic features Bollettino Lega Italiana Contro L Epilessia, 2005
Idiopatic focal epilepsy with auditory features: Description of four non familial cases Bollettino Lega Italiana Contro L Epilessia, 2005
Cri du chat syndrome and epilepsy: Electroclinical features in two cases Bollettino Lega Italiana Contro L Epilessia, 2005
Moyamoya disease with focal and myoclonic-atonic seizures, a new perspective? Bollettino Lega Italiana Contro L Epilessia, 2005
Linkage analysis and disease models in benign familial infantile seizures (BFIS): A study of 16 families Bollettino Lega Italiana Contro L Epilessia, 2005
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome V. L. Sheen, A. Jansen, M. H. Chen, E. Parrini, T. Morgan, R. Ravenscroft, V. Ganesh, T. Underwood, J. Wiley, R. Leventer, R. R. Vaid, D. E. Ruiz, G. M. Hutchins, J. Menasha, J. Willner, Y. Geng, K. W. Gripp, L. Nicholson, E. Berry-Kravis, A. Bodell, K. Apse, R. S. Hill, F. Dubeau, F. Andermann, J. Barkovich, E. Andermann, Y. Y. Shugart, P. Thomas, M. Viri, P. Veggiotti, S. Robertson, R. Guerrini, C. A. Walsh Neurology, 2005
Ring chromosome 14 with epilepsy: Two cases Bollettino Lega Italiana Contro L Epilessia, 2004
Kabuki syndrome: Does a typical electroclinical pattern exist? Bollettino Lega Italiana Contro L Epilessia, 2004
Idiopathic focal epilepsy with vertex spikes and waves associated with parossistic dizziness and Hypomelanosi of Ito Bollettino Lega Italiana Contro L Epilessia, 2004
A new familial case of West syndrome Bollettino Lega Italiana Contro L Epilessia, 2004
A case of SSPE: Electroclinical features Bollettino Lega Italiana Contro L Epilessia, 2004
Benign focal epilepsy of adolescence with frontal electroclinical pattern Bollettino Lega Italiana Contro L Epilessia, 2004
Neuropsychological follow-up in 5 patients with Lafora's disease treated with ketogenic diet Bollettino Lega Italiana Contro L Epilessia, 2004
Efficacy and safety of sustained-release valproate in paediatric onset epilepsies: A multi-centre study Bollettino Lega Italiana Contro L Epilessia, 2003
Use of levetiracetam in refractory pediatric epilepsy. An Italian study on 46 patients Bollettino Lega Italiana Contro L Epilessia, 2003
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy Francesca Madia, Elena Gennaro, Massimiliano Cecconi, Daniela Buti, Giuseppe Capovilla, Bernardo Dalla Bernardina, Maurizio Elia, Annarita Ferrari, Elena Fontana, Roberto Gaggero, Melania Giannotta, Lucio Giordano, Tiziana Granata, Lorita La Selva, Maria Luisa Lispi, Margherita Santucci, Francesca Vanadia, Pierangelo Veggiotti, Piernanda Vigliano, Maurizio Viri, Franca Dagna Bricarelli, Amedeo Bianchi, Federico Zara Epilepsy Research, 2003
Multiple cerebral cryptic vascular malformations and epilepsy in a child: Surgical treatment Italian Journal of Neurological Sciences, 1999
Multiple cerebral cryptic vascular malformations and epilepsy in a child: Surgical treatment Bollettino Lega Italiana Contro L Epilessia, 1999
High prevalence of anticardiolipin and/or anti-β2 glycoprotein I antibodies in young patients with epilepsy Bollettino Lega Italiana Contro L Epilessia, 1999
High prevalence of anticardiolipin and/or anti-beta2 glycoprotein i antibodies in young patients with epilepsy Italian Journal of Neurological Sciences, 1999
Autoimmune hyperthyroidism and epileptic seizures: A new case report Bollettino Lega Italiana Contro L Epilessia, 1998
Epilettici epileptic spasms in double cortex syndrome Bollettino Lega Italiana Contro L Epilessia, 1997
Status epilepticus amauroticus Bollettino Lega Italiana Contro L Epilessia, 1997
Occipital lobe epilepsy in children: A multicentric study Bollettino Lega Italiana Contro L Epilessia, 1997
A prospective randomized study on the clinical impact of therapeutic drug monitoring in patients with newly diagnosed epilepsy: Interim evaluation Bollettino Lega Italiana Contro L Epilessia, 1996
