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1. Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing

Author

Coppola, A, Krithika, S, Iacomino, M, Bobbili, D, Balestrini, S, Bagnasco, I, Bilo, L, Buti, D, Casellato, S, Cuccurullo, C, Ferlazzo, E, Leu, C, Giordano, L, Gobbi, G, Hernandez-Hernandez, L, Lench, N, Martins, H, Meletti, S, Messana, T, Nigro, V, Pinelli, M, Pippucci, T, Bellampalli, R, Salis, B, Sofia, V, Striano, P, Striano, S, Tassi, L, Vignoli, A, Vaudano, AE, Viri, M, Scheffer, IE, May, P, Zara, F, Sisodiya, SM, Coppola, A, Krithika, S, Iacomino, M, Bobbili, D, Balestrini, S, Bagnasco, I, Bilo, L, Buti, D, Casellato, S, Cuccurullo, C, Ferlazzo, E, Leu, C, Giordano, L, Gobbi, G, Hernandez-Hernandez, L, Lench, N, Martins, H, Meletti, S, Messana, T, Nigro, V, Pinelli, M, Pippucci, T, Bellampalli, R, Salis, B, Sofia, V, Striano, P, Striano, S, Tassi, L, Vignoli, A, Vaudano, AE, Viri, M, Scheffer, IE, May, P, Zara, F, and Sisodiya, SM

Abstract

OBJECTIVE: Epilepsy 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. METHODS: We 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). RESULTS: We 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. SIGNIFICANCE: Our 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. A

Published
2024

2. Comorbidities in patients with epilepsy: Frequency, mechanisms and effects on long-term outcome

Author

Giussani, G, Bianchi, E, Beretta, S, Carone, D, Difrancesco, J, Stabile, A, Zanchi, C, Pirovano, M, Trentini, C, Padovano, G, Colombo, M, Cereda, D, Tinti, L, Scanziani, S, Gasparini, S, Bogliun, G, Ferrarese, C, Beghi, E, Romeo, A, Viri, M, Specchio, L, Trivisano, M, Mecarelli, O, Zarabla, A, Capovilla, G, Beccaria, F, Sasanelli, F, Galimberti, C, Tartara, E, Zamponi, N, Cappanera, S, Aguglia, U, Ferlazzo, E, La Neve, A, Luisi, C, Pontrelli, G, Cantisani, A, De Maria, G, Albanese, Y, Giussani G., Bianchi E., Beretta S., Carone D., DiFrancesco J. C., Stabile A., Zanchi C., Pirovano M., Trentini C., Padovano G., Colombo M., Cereda D., Tinti L., Scanziani S., Gasparini S., Bogliun G., Ferrarese C., Beghi E., Romeo A., Viri M., Specchio L., Trivisano M., Mecarelli O., Zarabla A., Capovilla G., Beccaria F., Sasanelli F., Galimberti C. A., Tartara E., Zamponi N., Cappanera S., Aguglia U., Ferlazzo E., La Neve A., Luisi C., Pontrelli G., Cantisani A. T., De Maria G., Albanese Y., Giussani, G, Bianchi, E, Beretta, S, Carone, D, Difrancesco, J, Stabile, A, Zanchi, C, Pirovano, M, Trentini, C, Padovano, G, Colombo, M, Cereda, D, Tinti, L, Scanziani, S, Gasparini, S, Bogliun, G, Ferrarese, C, Beghi, E, Romeo, A, Viri, M, Specchio, L, Trivisano, M, Mecarelli, O, Zarabla, A, Capovilla, G, Beccaria, F, Sasanelli, F, Galimberti, C, Tartara, E, Zamponi, N, Cappanera, S, Aguglia, U, Ferlazzo, E, La Neve, A, Luisi, C, Pontrelli, G, Cantisani, A, De Maria, G, Albanese, Y, Giussani G., Bianchi E., Beretta S., Carone D., DiFrancesco J. C., Stabile A., Zanchi C., Pirovano M., Trentini C., Padovano G., Colombo M., Cereda D., Tinti L., Scanziani S., Gasparini S., Bogliun G., Ferrarese C., Beghi E., Romeo A., Viri M., Specchio L., Trivisano M., Mecarelli O., Zarabla A., Capovilla G., Beccaria F., Sasanelli F., Galimberti C. A., Tartara E., Zamponi N., Cappanera S., Aguglia U., Ferlazzo E., La Neve A., Luisi C., Pontrelli G., Cantisani A. T., De Maria G., and Albanese Y.

Abstract

Objective: To assess frequency, types, and mechanisms of comorbidities in people with epilepsy and verify their association with disease features and outcome. Methods: This cohort study was performed in 13 Italian epilepsy centers with nationwide distribution and accurate records. Eligible patients were children and adults diagnosed before December 31, 2005, and followed for a minimum of 10 years. Two pairs of raters independently reviewed patients’ records and classified each comorbidity. In case of disagreement, a third reviewer made the final decision. Comorbidities were classified according to type (organ/system) and underlying mechanism (causal, shared risk factors, chance association). Comorbidity types and mechanisms were described in the entire sample and according to epilepsy prognostic patterns (sustained remission, relapsing-remitting course, no remission). Results: Of 1006 included patients, 266 (26.4%) had at least one comorbidity. The most common were developmental/perinatal (7.5% of cases), psychiatric (6.2%), cardiovascular (5.3%), and endocrine/metabolic (3.8%). Among 408 reported comorbidities, the underlying mechanisms were, in decreasing order, chance association (42.2%), shared risk factors (31.1%), and causal (26.7%). Psychiatric diseases were present in 13.3% of patients with no remission, 5.9% of patients with relapsing-remitting course, and 4.8% of patients with sustained remission (p =.016). The corresponding numbers for endocrine/metabolic diseases were respectively, 9.6%, 3.4%, and 2.9% (p =.013); for respiratory diseases were 3.6%,.3%, and.3% (p =.001), and for urogenital diseases were 3.6%,.7%, and 1.6% (p =.048). The association of endocrine/metabolic, psychiatric, and respiratory comorbidities with epilepsy prognosis was confirmed by multivariable analysis adjusted for the main demographic and clinical variables, with patients with these comorbidities showing a lower probability of achieving remission. Signifi

Published
2021

3. A nationwide study on Sydenham's chorea: Clinical features, treatment and prognostic factors: A multicenter cohort study on Sydenham's chorea

Author

Orsini, A., Foiadelli, T., Magistrali, M., Carli, N., Bagnasco, I., Dassi, P., Verrotti, A., Marcotulli, D., Canavese, C., Nicita, F., Capuano, A., Marra, C., Fetta, A., Nosadini, M., Sartori, S., Papa, A., Viri, M., Greco, F., Pavone, P., Simonini, G., Matricardi, S., Siquilini, S., Marchese, F., De Grandis, E., Brunenghi, B. M., Malattia, C., Bassanese, F., Bergonzini, P., Bonuccelli, A., Consolini, R., Marseglia, G. L., Peroni, D., Striano, P., Cordelli, D., and Savasta, S.

Subjects
Adolescent, Mental Disorders, Streptococcus, Intravenous immunoglobulins, Prognosis, Immunotherapy, Italy, Neuropsychiatric symptoms, Child, Humans, Retrospective Studies, Chorea, Rheumatic Fever
Published
2022

4. Comorbidities in patients with epilepsy: Frequency, mechanisms and effects on long-term outcome

Author

Giussani G., Bianchi E., Beretta S., Carone D., DiFrancesco J. C., Stabile A., Zanchi C., Pirovano M., Trentini C., Padovano G., Colombo M., Cereda D., Tinti L., Scanziani S., Gasparini S., Bogliun G., Ferrarese C., Beghi E., Romeo A., Viri M., Specchio L., Trivisano M., Mecarelli O., Zarabla A., Capovilla G., Beccaria F., Sasanelli F., Galimberti C. A., Tartara E., Zamponi N., Cappanera S., Aguglia U., Ferlazzo E., La Neve A., Luisi C., Pontrelli G., Cantisani A. T., De Maria G., Albanese Y., Giussani, G, Bianchi, E, Beretta, S, Carone, D, Difrancesco, J, Stabile, A, Zanchi, C, Pirovano, M, Trentini, C, Padovano, G, Colombo, M, Cereda, D, Tinti, L, Scanziani, S, Gasparini, S, Bogliun, G, Ferrarese, C, Beghi, E, Romeo, A, Viri, M, Specchio, L, Trivisano, M, Mecarelli, O, Zarabla, A, Capovilla, G, Beccaria, F, Sasanelli, F, Galimberti, C, Tartara, E, Zamponi, N, Cappanera, S, Aguglia, U, Ferlazzo, E, La Neve, A, Luisi, C, Pontrelli, G, Cantisani, A, De Maria, G, and Albanese, Y

Subjects
Adult, medicine.medical_specialty, comorbiditie, mechanism, Comorbidity, Disease, Urogenital diseases, Cohort Studies, Epilepsy, Risk Factors, Internal medicine, cohort study, Humans, Endocrine system, Medicine, In patient, Child, business.industry, Mental Disorders, medicine.disease, Neurology, epilepsy, Neurology (clinical), Sustained remission, business, prognosi, Cohort study
Abstract

Objective: To assess frequency, types, and mechanisms of comorbidities in people with epilepsy and verify their association with disease features and outcome. Methods: This cohort study was performed in 13 Italian epilepsy centers with nationwide distribution and accurate records. Eligible patients were children and adults diagnosed before December 31, 2005, and followed for a minimum of 10years. Two pairs of raters independently reviewed patients’ records and classified each comorbidity. In case of disagreement, a third reviewer made the final decision. Comorbidities were classified according to type (organ/system) and underlying mechanism (causal, shared risk factors, chance association). Comorbidity types and mechanisms were described in the entire sample and according to epilepsy prognostic patterns (sustained remission, relapsing-remitting course, no remission). Results: Of 1006 included patients, 266 (26.4%) had at least one comorbidity. The most common were developmental/perinatal (7.5% of cases), psychiatric (6.2%), cardiovascular (5.3%), and endocrine/metabolic (3.8%). Among 408 reported comorbidities, the underlying mechanisms were, in decreasing order, chance association (42.2%), shared risk factors (31.1%), and causal (26.7%). Psychiatric diseases were present in 13.3% of patients with no remission, 5.9% of patients with relapsing-remitting course, and 4.8% of patients with sustained remission (p=.016). The corresponding numbers for endocrine/metabolic diseases were respectively, 9.6%, 3.4%, and 2.9% (p=.013); for respiratory diseases were 3.6%,.3%, and.3% (p=.001), and for urogenital diseases were 3.6%,.7%, and 1.6% (p=.048). The association of endocrine/metabolic, psychiatric, and respiratory comorbidities with epilepsy prognosis was confirmed by multivariable analysis adjusted for the main demographic and clinical variables, with patients with these comorbidities showing a lower probability of achieving remission. Significance: Comorbidities in epilepsy are not uncommon and reflect differing underlying mechanisms. Psychiatric, endocrine/metabolic, and respiratory disorders are associated with a worse long-term epileptological outcome.

Published
2021

5. Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus

Author

Fusco, C., Leuzzi, V., Striano, P., Battini, R., Burlina, A., Belcastro, V., Capodiferro, D., Donati, M. A., Gueraldi, D., Manzoni, F., Orsini, A., Parisi, P., Pisani, F., Sacchini, M., Spalice, A., Verrotti di Pianella, A., Viri, M., and Spagnoli, C.

Subjects
Male, 0301 basic medicine, medicine.medical_specialty, Delphi Technique, media_common.quotation_subject, Delphi method, Psychological intervention, Metabolic disease, Scientific evidence, 03 medical and health sciences, Presentation, AADC DEFICIENCY, 0302 clinical medicine, AADC deficiency, Intervention (counseling), medicine, Humans, Child, Amino Acid Metabolism, Inborn Errors, media_common, business.industry, Inborn Errors, Research, lcsh:RJ1-570, Aromatic L-amino acid decarboxylase deficiency, Neurometabolic disorder, lcsh:Pediatrics, Cognition, Delphi consensus, Amino Acid Metabolism, Phenotype, 030104 developmental biology, Italy, Aromatic-L-Amino-Acid Decarboxylases, Disease Presentation, Family medicine, Female, business, 030217 neurology & neurosurgery
Abstract

Background Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare and underdiagnosed neurometabolic disorder resulting in a complex neurological and non-neurological phenotype, posing diagnostic challenges resulting in diagnostic delay. Due to the low number of patients, gathering high-quality scientific evidence on diagnosis and treatment is difficult. Additionally, based on the estimated prevalence, the number of undiagnosed patients is likely to be high. Methods Italian experts in AADC deficiency formed a steering committee to engage clinicians in a modified Delphi consensus to promote discussion, and support research, dissemination and awareness on this disorder. Five experts in the field elaborated six main topics, each subdivided into 4 statements and invited 13 clinicians to give their anonymous feedback. Results 100% of the statements were answered and a consensus was reached at the first round. This enabled the steering committee to acknowledge high rates of agreement between experts on clinical presentation, phenotypes, diagnostic work-up and treatment strategies. A research gap was identified in the lack of standardized cognitive and motor outcome data. The need for setting up an Italian working group and a patients’ association, together with the dissemination of knowledge inside and outside scientific societies in multiple medical disciplines were recognized as critical lines of intervention. Conclusions The panel expressed consensus with high rates of agreement on a series of statements paving the way to disseminate clear messages concerning disease presentation, diagnosis and treatment and strategic interventions to disseminate knowledge at different levels. Future lines of research were also identified.

Published
2021

6. Consensus protocol for EEG and amplitude-integrated EEG assessment and monitoring in neonates

Author

Dilena, R., Raviglione, F., Cantalupo, G., Cordelli, D. M., De Liso, P., Di Capua, M., Falsaperla, R., Ferrari, F., Fumagalli, M., Lori, S., Suppiej, A., Tadini, L., Dalla Bernardina, B., Mastrangelo, M., Pisani, F., Bassi, L., Sirgiovanni, I., Passera, S., De Carli, A., Bana, C., Giacobbe, A., Nigro, M., Vergari, M., Mingarelli, A., Compierchio, E., Beghi, E., Stucchi, I. L., Olivotto, S., Alfei, E., Lodi, M., Testolin, C., Teutonico, F., Restelli, R., Natali-Sora, M., Vignoli, A., Foiadelli, T., Sparta, M. V., Kullmann, G., Paterlini, G., Dessimone, F., Accorsi, P., Martelli, P., Beccaria, F., Capovilla, G., Mastretta, E., Vittorini, R., Longaretti, F., Vercellino, F., Viri, M., Peruzzi, C., Mastella, L., Marangone, M., Vecchi, M., Pellegrin, S., Chiodin, E., Marchio, G., Darra, F., Tarocco, A., Lugli, L., Guidotti, I., Ramenghi, L., Ancora, G., Boni, A., Pavlidis, E., Bastianelli, M., Gabbanini, S., Vigevano, F., Fusco, L., Savarese, I., Cesaroni, E., D'Ascenzo, R., Zamponi, N., Ferrari, M., De Cosmo, L., Scoppa, A., De Vivo, M., Vendemmia, M., Pruna, D., Aguglia, M. G., Piro, E., Dilena, O, Raviglione, F, Cantalupo, G, Cordelli, DM, De Liso, P, Di Capua, M, Falsaperla, R, Ferrari, F, Fumagalli, M, Lori, S, Suppiej, A, Tadini, L, Dalla Bernardina, B, Mastrangelo, M, Pisani, F, Piro, E, Dilena R., Raviglione F., Cantalupo G., Cordelli D.M., De Liso P., Di Capua M., Falsaperla R., Ferrari F., Fumagalli M., Lori S., Suppiej A., Tadini L., Dalla Bernardina B., Mastrangelo M., and Pisani F.

Subjects
medicine.medical_specialty, Consensus, Collaborative network, Socio-culturale, Consensu, Review, Electroencephalography, Guideline, Clinical neurophysiology, 050105 experimental psychology, 03 medical and health sciences, 0302 clinical medicine, Seizures, Physiology (medical), Intensive care, Intensive Care Units, Neonatal, Hypoxic-ischemic encephalopathy, Medicine, Humans, 0501 psychology and cognitive sciences, Neonatal seizure, Protocol (science), medicine.diagnostic_test, business.industry, Guideline, Review, Electroencephalography, Newborn, Seizures, Hypoxic-ischemic encephalopathy, 05 social sciences, Newborn, Infant, Newborn, medicine.disease, Seizure, Sensory Systems, Systematic review, Neurology, Italy, Neurology (clinical), Medical emergency, business, 030217 neurology & neurosurgery, Human
Abstract

The aim of this work is to establish inclusive guidelines on electroencephalography (EEG) applicable to all neonatal intensive care units (NICUs). Guidelines on ideal EEG monitoring for neonates are available, but there are significant barriers to their implementation in many centres around the world. These includebarriers due to limited resources regarding the availability of equipment and technical and interpretive round-the-clock personnel. On the other hand, despite its limitations, amplitude-integrated EEG (aEEG) (previously called Cerebral Function Monitor [CFM]) is a common alternative used in NICUs.The Italian Neonatal Seizure Collaborative Network (INNESCO), working with all national scientific societies interested in the field of neonatal clinical neurophysiology, performed a systematic literature review and promoted interdisciplinary discussions among experts (neonatologists, paediatric neurologists, neurophysiologists, technicians) between 2017 and 2020 with the aim of elaborating shared recommendations.A consensus statement on videoEEG (vEEG) and aEEG for the principal neonatal indications was established. The authors propose a flexible frame of recommendations based on the complementary use of vEEG and aEEG applicable to the various neonatal units with different levels of complexity according to local resources and specific patient features. Suggestions for promoting cooperation between neonatologists, paediatric neurologists, and neurophysiologists, organisational restructuring, and teleneurophysiology implementation are provided.(c) 2021 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

Published
2021

7. Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis

Author

Nosadini, Margherita, Granata, Tiziana, Matricardi, Sara, Freri, Elena, Ragona, Francesca, Papetti, Laura, Suppiej, Agnese, Valeriani, Massimiliano, Sartori, Stefano, Italian Working Group on Paediatric Anti-N-methyl-D-aspartate Receptor Encephalitis, Bonuccelli, A, Beccaria, F, Buechner, S, Buratti, S, Cantalupo, G, Cappellari, A, Casellato, S, Cesaroni, E, Cimaz, R, Cordelli, Dm, Costa, P, Dell'Avvento, S, Dilena, R, Falsaperla, R, Foiadelli, T, Frigo, Ac, Fusco, L, Giacobbe, A, Giannotta, M, Grazian, L, Maggio, Mc, Mancardi, Mm, Melis, M, Natali Sora MG, Orsini, A, Petruzzellis, A, Pini, A, Pruna, D, Santangelo, G, Savasta, S, Scaduto, Mc, Serino, D, Simula, D, Solazzi, R, Sotgiu, S, Splendiani, A, Toldo, I, Vigevano, F, Viri, M, Visconti, P, Zamponi, N, Zanus, C, Zoccarato, M, Zuliani, L, Nosadini M., Granata T., Matricardi S., Freri E., Ragona F., Papetti L., Suppiej A., Valeriani M., Sartori S., Bonuccelli A., Beccaria F., Buechner S., Buratti S., Cantalupo G., Cappellari A., Casellato S., Cesaroni E., Cimaz R., Cordelli D.M., Costa P., Dell'Avvento S., Dilena R., Falsaperla R., Foiadelli T., Frigo A.C., Fusco L., Giacobbe A., Giannotta M., Grazian L., Maggio M.C., Mancardi M.M., Melis M., Natali Sora M.G., Orsini A., Petruzzellis A., Pini A., Pruna D., Santangelo G., Savasta S., Scaduto M.C., Serino D., Simula D., Solazzi R., Sotgiu S., Splendiani A., Toldo I., Vigevano F., Viri M., Visconti P., Zamponi N., Zanus C., Zoccarato M., and Zuliani L.

Subjects
Male, 030506 rehabilitation, Gastroenterology, Cohort Studies, 0302 clinical medicine, Retrospective Studie, Modified Rankin Scale, Recurrence, Risk Factors, Child, relapse, Anti-N-Methyl-D-Aspartate Receptor Encephalitis, Hazard ratio, Italy, Child, Preschool, Cohort, anti‐N‐methyl‐D‐aspartate receptor encephalitis, Female, 0305 other medical science, Encephalitis, Human, Cohort study, medicine.medical_specialty, Adolescent, Socio-culturale, anti-NMDAR antibodies, 03 medical and health sciences, anti-NMDAR, Developmental Neuroscience, Internal medicine, medicine, Humans, Infant, Retrospective Studies, Preschool, Survival analysis, Autoimmune encephalitis, business.industry, Retrospective cohort study, medicine.disease, anti-NMDAR antibodies, autoimmune encephalitis, anti‐N‐methyl‐D‐aspartate receptor encephalitis, autoimmune encephalitis, Anti-N-methyl-D-aspartate receptor encephalitis, anti-NMDAR, autoimmune encephalitis, relapse, Anti-N-Methyl-D-Aspartate Receptor Encephaliti, Pediatrics, Perinatology and Child Health, Neurology (clinical), Cohort Studie, business, 030217 neurology & neurosurgery
Abstract

Aim: To identify factors that may predict and affect the risk of relapse in anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. Method: This was a retrospective study of an Italian cohort of patients with paediatric (≤18y) onset anti-NMDAR encephalitis. Results: Of the 62 children included (39 females; median age at onset 9y 10mo, range 1y 2mo–18y; onset between 2005 and 2018), 21 per cent relapsed (median two total events per relapsing patient, range 2–4). Time to first relapse was median 31.5months (range 7–89mo). Severity at first relapse was lower than onset (median modified Rankin Scale [mRS] 3, range 2–4, vs median mRS 5, range 3–5; admission to intensive care unit: 0/10 vs 3/10). At the survival analysis, the risk of relapsing was significantly lower in patients who received three or more different immune therapies at first disease event (hazard ratio 0.208, 95% confidence interval 0.046–0.941; p=0.042). Neurological outcome at follow-up did not differ significantly between patients with relapsing and monophasic disease (mRS 0–1 in 39/49 vs 12/13; p=0.431), although follow-up duration was significantly longer in relapsing (median 84mo, range 14–137mo) than in monophasic patients (median 32mo, range 4–108mo; p=0.002). Interpretation: Relapses may occur in about one-fifth of children with anti-NMDAR encephalitis, are generally milder than at onset, and may span over a long period, although they do not seem to be associated with severity in the acute phase or with outcome at follow-up. Aggressive immune therapy at onset may reduce risk of relapse. What this paper adds: Relapses of anti-N-methyl-D-aspartate receptor encephalitis may span over a long period. Relapses were not associated with severity in the acute phase or outcome at follow-up. Aggressive immune therapy at onset appears to decrease risk of relapse.

Published
2019

9. DISTRIBUTION OF PROGRESSIVE MYOCLONUS EPILEPSIES IN ITALY; POSITIVELY DIAGNOSED AND UNCLASSIFIED PATIENTS: p827

Author

Canafoglia, L., Franceschetti, S., Michelucci, R., Magaudda, A., Rubboli, G., Tinuper, P., Striano, P., Striano, S., Gambardella, A., Neve, La A., Francavilla, T., Ferlazzo, E., Italiano, D., Gobbi, G., Villani, F., Nardocci, N., Granata, T., Veggiotti, P., Pareyson, D., Coppola, G., Uziel, G., Belcastro, V., Bisulli, F., Spreafico, R., Guerrini, R., Viri, M., Zucca, C., Capovilla, G., Giovagnoli, A. R., Canevini, M. P., Binelli, S., Casazza, M., Cantisani, A. T., Filla, A., Pezzella, M., Santucci, M., Parmeggiani, A., Posar, A., De Maria, G., Marini, C., Bianchi, A., Ragona, F., Freri, E., Mariotti, C., and Costa, P.

Published
2012

10. Prognostic patterns and predictors in epilepsy: A multicentre study (PRO-LONG)

Author

Beghi, E, Beretta, S, Carone, D, Zanchi, C, Bianchi, E, Pirovano, M, Trentini, C, Padovano, G, Colombo, M, Cereda, D, Scanziani, S, Giussani, G, Gasparini, S, Bogliun, G, Ferrarese, C, PRO-LONG Study Group: Romeo, A, Viri, M, Lodi, M, Specchio, L, Trivisano, M, Mecarelli, O, Zarabla, A, Capovilla, G, Beccaria, F, Sasanelli, F, Andrea Galimberti, C, Tartara, E, Zamponi, N, Cappanera, S, Aguglia, U, Pustorino, G, Ferlazzo, E, La Neve, A, Luisi, C, Pontrelli, G, Basso, P, Pozzi, A, Cantisani, At, Papetti, R, De Maria, G, Di Francesco, J, Albanese, J., Beghi, E, Beretta, S, Carone, D, Zanchi, C, Bianchi, E, Pirovano, M, Trentini, C, Padovano, G, Colombo, M, Cereda, D, Scanziani, S, Giussani, G, Gasparini, S, Bogliun, G, and Ferrarese, C

Subjects
Neurological signs, Adult, Male, Pediatrics, medicine.medical_specialty, Complete data, Neurology, Adolescent, prognostic patterns, Early remission, Electroencephalography, long-term prognosi, 03 medical and health sciences, Epilepsy, Psychiatric comorbidity, Young Adult, 0302 clinical medicine, Recurrence, Risk Factors, prognostic pattern, medicine, Humans, long-term prognosis, Child, 030304 developmental biology, Aged, epilepsy, prognostic predictors, 0303 health sciences, medicine.diagnostic_test, business.industry, Remission Induction, Infant, Middle Aged, medicine.disease, Prognosis, prognostic predictor, Drug Utilization, Psychiatry and Mental health, Child, Preschool, Etiology, Surgery, Anticonvulsants, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

ObjectivesTo describe the long-term prognosis of epilepsy and prognostic patterns in a large cohort of newly diagnosed patients and identify prognostic factors.MethodsStudy participants were 13 Italian epilepsy centres with accessible records dating back to 2005 or earlier, complete data on seizure outcome and treatments, precise epilepsy diagnosis, and follow-up of at least 10 years. Records were examined by trained neurology residents for demographics, seizure characteristics, neurological signs, psychiatric comorbidity, first electroencephalogram (EEG) and MRI/CT, epilepsy type and aetiology, antiepileptic drugs (AEDs), and 1-year, 2-year, 5-year and 10-year seizure remissions. Five predefined prognostic patterns were identified: early remission, late remission, relapsing-remitting course, worsening course and no remission. Prognostic factors were assessed using multinomial logistic regression models.Results1006 children and adults were followed for 17 892 person-years (median 16 years; range 10–57). During follow-up, 923 patients (91.7%) experienced 1-year remission. 2-year, 5-year and 10-year remissions were present in 89.5%, 77.1% and 44.4% of cases. 5-year remission was associated with one to two seizures at diagnosis, generalised epilepsy, no psychiatric comorbidity, and treatment with one or two AEDs during follow-up. 10-year remission was associated with one or two AEDs. The most common prognostic pattern was relapsing-remitting (52.2%), followed by early remission (24.5%). 8.3% of cases experienced no remission. Predictors of a relapsing-remitting course were ConclusionsFew seizures at diagnosis, generalised epilepsy and no psychiatric comorbidity predict early or late seizure freedom in epilepsy. Achieving remission at any time after the diagnosis does not exclude further relapses.

Published
2019

13. Comorbidities in patients with epilepsy: Frequency, mechanisms and effects on long‐term outcome.

Author

Giussani, Giorgia, Bianchi, Elisa, Beretta, Simone, Carone, Davide, DiFrancesco, Jacopo C., Stabile, Andrea, Zanchi, Clara, Pirovano, Marta, Trentini, Claudia, Padovano, Giada, Colombo, Matteo, Cereda, Diletta, Tinti, Lorenzo, Scanziani, Sofia, Gasparini, Sara, Bogliun, Graziella, Ferrarese, Carlo, Beghi, Ettore, Romeo, A, and Viri, M

Subjects
EPILEPSY, PEOPLE with epilepsy, GENITOURINARY diseases, MENTAL illness, PROGNOSIS, COMORBIDITY
Abstract

Objective: To assess frequency, types, and mechanisms of comorbidities in people with epilepsy and verify their association with disease features and outcome. Methods: This cohort study was performed in 13 Italian epilepsy centers with nationwide distribution and accurate records. Eligible patients were children and adults diagnosed before December 31, 2005, and followed for a minimum of 10 years. Two pairs of raters independently reviewed patients' records and classified each comorbidity. In case of disagreement, a third reviewer made the final decision. Comorbidities were classified according to type (organ/system) and underlying mechanism (causal, shared risk factors, chance association). Comorbidity types and mechanisms were described in the entire sample and according to epilepsy prognostic patterns (sustained remission, relapsing‐remitting course, no remission). Results: Of 1006 included patients, 266 (26.4%) had at least one comorbidity. The most common were developmental/perinatal (7.5% of cases), psychiatric (6.2%), cardiovascular (5.3%), and endocrine/metabolic (3.8%). Among 408 reported comorbidities, the underlying mechanisms were, in decreasing order, chance association (42.2%), shared risk factors (31.1%), and causal (26.7%). Psychiatric diseases were present in 13.3% of patients with no remission, 5.9% of patients with relapsing‐remitting course, and 4.8% of patients with sustained remission (p =.016). The corresponding numbers for endocrine/metabolic diseases were respectively, 9.6%, 3.4%, and 2.9% (p =.013); for respiratory diseases were 3.6%,.3%, and.3% (p =.001), and for urogenital diseases were 3.6%,.7%, and 1.6% (p =.048). The association of endocrine/metabolic, psychiatric, and respiratory comorbidities with epilepsy prognosis was confirmed by multivariable analysis adjusted for the main demographic and clinical variables, with patients with these comorbidities showing a lower probability of achieving remission. Significance: Comorbidities in epilepsy are not uncommon and reflect differing underlying mechanisms. Psychiatric, endocrine/metabolic, and respiratory disorders are associated with a worse long‐term epileptological outcome. [ABSTRACT FROM AUTHOR]

Published
2021
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18. Long-term applicability of the new ILAE definition of epilepsy. Results from the PRO-LONG study

Author

Beretta, S, Carone, D, Zanchi, C, Bianchi, E, Pirovano, M, Trentini, C, Padovano, G, Colombo, M, Cereda, D, Scanziani, S, Giussani, G, Gasparini, S, Bogliun, G, Ferrarese, C, Beghi, E, Romeo, A, Viri, M, Lodi, M, Specchio, L, Trivisano, M, Mecarelli, O, Zarabla, A, Capovilla, G, Beccaria, F, Sasanelli, F, Andrea Galimberti, C, Tartara, E, Zamponi, N, Cappanera, S, Aguglia, U, Pustorino, G, Ferlazzo, E, La Neve, A, Luisi, C, Pontrelli, G, Basso, P, Pozzi, A, Cantisani, A, Papetti, R, De Maria, G, Difrancesco, J, Albanese, Y, Beretta, Simone, Carone, Davide, Zanchi, Clara, Bianchi, Elisa, Pirovano, Marta, Trentini, Claudia, Padovano, Giada, Colombo, Matteo, Cereda, Diletta, Scanziani, Sofia, Giussani, Giorgia, Gasparini, Sara, Bogliun, Graziella, Ferrarese, Carlo, Beghi, Ettore, Romeo, Antonino, Viri, Maurizio, Lodi, Monica, Specchio, Luigi, Trivisano, Marina, Mecarelli, Oriano, Zarabla, Alessia, Capovilla, Giuseppe, Beccaria, Francesca, Sasanelli, Francesco, Andrea Galimberti, Carlo, Tartara, Elena, Zamponi, Nelia, Cappanera, Silvia, Aguglia, Umberto, Pustorino, Giuseppe, Ferlazzo, Edoardo, La Neve, Angela, Luisi, Concetta, Pontrelli, Giuseppe, Basso, Pierfranco, Pozzi, Annalisa, Cantisani, Anna Teresa, Papetti, Rossella, De Maria, Giovanni, DiFrancesco, Jacopo C., Albanese, Yasmin, Beretta, S, Carone, D, Zanchi, C, Bianchi, E, Pirovano, M, Trentini, C, Padovano, G, Colombo, M, Cereda, D, Scanziani, S, Giussani, G, Gasparini, S, Bogliun, G, Ferrarese, C, Beghi, E, Romeo, A, Viri, M, Lodi, M, Specchio, L, Trivisano, M, Mecarelli, O, Zarabla, A, Capovilla, G, Beccaria, F, Sasanelli, F, Andrea Galimberti, C, Tartara, E, Zamponi, N, Cappanera, S, Aguglia, U, Pustorino, G, Ferlazzo, E, La Neve, A, Luisi, C, Pontrelli, G, Basso, P, Pozzi, A, Cantisani, A, Papetti, R, De Maria, G, Difrancesco, J, Albanese, Y, Beretta, Simone, Carone, Davide, Zanchi, Clara, Bianchi, Elisa, Pirovano, Marta, Trentini, Claudia, Padovano, Giada, Colombo, Matteo, Cereda, Diletta, Scanziani, Sofia, Giussani, Giorgia, Gasparini, Sara, Bogliun, Graziella, Ferrarese, Carlo, Beghi, Ettore, Romeo, Antonino, Viri, Maurizio, Lodi, Monica, Specchio, Luigi, Trivisano, Marina, Mecarelli, Oriano, Zarabla, Alessia, Capovilla, Giuseppe, Beccaria, Francesca, Sasanelli, Francesco, Andrea Galimberti, Carlo, Tartara, Elena, Zamponi, Nelia, Cappanera, Silvia, Aguglia, Umberto, Pustorino, Giuseppe, Ferlazzo, Edoardo, La Neve, Angela, Luisi, Concetta, Pontrelli, Giuseppe, Basso, Pierfranco, Pozzi, Annalisa, Cantisani, Anna Teresa, Papetti, Rossella, De Maria, Giovanni, DiFrancesco, Jacopo C., and Albanese, Yasmin

Abstract

Objective: The new epilepsy definition adopted by the International League Against Epilepsy (ILAE) includes patients with one unprovoked seizure with a probability of further seizures, similar to the general recurrence risk after two unprovoked seizures, occurring in a 10-year period. Long-term follow-up of patients diagnosed after a single seizure is needed to assess the applicability of the new epilepsy definition in clinical practice. Methods: Patients with newly diagnosed epilepsy were recruited retrospectively with a minimum follow-up of 10 years. Patients were stratified in two groups depending on the occurrence of one (new definition, ND) or two or more unprovoked seizures (traditional definition, TD) at the time of epilepsy diagnosis and compared for disease characteristics and factors predicting seizure recurrence. The primary outcome was the occurrence of a new unprovoked seizure during follow-up in the ND group. The secondary outcome was the achievement of an early remission in both groups. Results: Among 1,006 patients with newly diagnosed epilepsy, 152 (15.1%) were diagnosed after a single seizure. Compared to patients diagnosed using the TD, patients diagnosed according to the ND showed a higher proportion of subjects with an abnormal neurologic examination (19.9% vs. 13.7%, p = 0.0504) and with focal seizures (69.3% vs. 60.4%, p = 0.0021). The two samples differed in the presence of at least one of the factors predicting seizure recurrence (focal seizures or abnormal findings in at least one among the following: neurologic examination, electroencephalography [EEG], and neuroimaging) (94.6% vs. 89.1%, p = 0.0376). Long-term recurrence in patients diagnosed with the new definition was 83.6% at 10 years and 89.1% at 15 years. The probability of early remission did not differ between the two groups. Significance: Our results support the applicability of the new epilepsy definition in clinical practice. Individual patient characteristics and a personalized

Published
2017

19. Satisfaction with antiepileptic drugs in children and adolescents with newly diagnosed and chronic epilepsy

Author

Beghi, E, Messina, P, Pupillo, E, Crichiutti, G, Baglietto, Mg, Veggiotti, P, Zamponi, N, Casellato, S, Margari, L, Cianchetti, C, Collaborators: Giussani G, TASCA Study G. r. o. u. p., Lanzarotti, C, Mattana, F, Assalone, C, Vari, Ms, Prato, G, Brustia, F, Lunghi, S, Olivotto, S, Cesaroni, E, Cappanera, S, Simula, D, Chillotti, I, Pisano, T, Pruna, D, Lucarelli, E, Bonanni, P, Micoli, B, Ferrari, Ar, Valvo, G, Parmeggiani, A, Tedde, Mr, Conti, S, Tortorella, G, Briguglio, M, Coppola, G, D'Aniello, A, Capovilla, G, Beccaria, F, Cagdas, S, Besana, D, Rasmini, P, Caldognetto, M, Martini, A, Romeo, A, Viri, M, Lodi, M, Gobbi, G, Boni, A, Germano, M, Tiberti, A, Battaglia, S, Micheli, R, Galli, J, Capizzi, Giorgio, Pieri, I., E. Beghi, P. Messina, E. Pupillo, G. Crichiutti, M.G. Baglietto, P. Veggiotti, N. Zamponi, S. Casellato, L. Margari, C. Cianchetti, the TASCA study group [.., A. Parmeggiani, and ]

Subjects
Male, Adverse event, medicine.medical_specialty, Pediatrics, Adolescent, Disease, Newly diagnosed, Epilepsy, antiepileptic drug, Quality of life, Humans, Medicine, Prospective Studies, Child, Psychiatry, Adverse effect, business.industry, Incidence (epidemiology), Age Factors, Adverse events, Drug acceptability, quality of life, medicine.disease, Chronic epilepsy, Adverse events, Quality of life, Drug acceptability, childhood and adolescence, Treatment Outcome, Neurology, Patient Satisfaction, Child, Preschool, Chronic Disease, epilepsy, Anticonvulsants, Female, Observational study, Neurology (clinical), business, Follow-Up Studies
Abstract

PURPOSE: To assess incidence, indicators and outcome of satisfaction with antiepileptic drugs in children. METHODS: Multicenter, observational, open, prospective survey of children and adolescents with epilepsy with three-month follow-up. Included were patients aged 3-17 years with newly diagnosed ("new diagnosis") or chronic epilepsy ("old diagnosis") requiring treatment start or change. Satisfaction was assessed with the Hedonic Visual Scale or direct questions, depending on patient's age. Quality of life of adolescents (QOLIE-48) and of caregivers (SF-36) and predictors of (dis)satisfaction were also assessed. RESULTS: 293 patients completed the study. Most had generalized idiopathic epilepsy, and a disease lasting

Published
2012

21. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

Author

Stamberger, H., Nikanorova, M., Willemsen, M.H., Accorsi, P., Angriman, M., Baier, H., Benkel-Herrenbrueck, I., Benoit, V., Budetta, M., Caliebe, A., Cantalupo, G., Capovilla, G., Casara, G., Courage, C., Deprez, M., Destree, A., Dilena, R., Erasmus, C.E., Fannemel, M., Fjaer, R., Giordano, L., Helbig, K.L., Heyne, H.O., Klepper, J., Kluger, G.J., Lederer, D., Lodi, M., Maier, O., Merkenschlager, A., Michelberger, N., Minetti, C., Muhle, H., Phalin, J., Ramsey, K., Romeo, A., Schallner, J., Schanze, I., Shinawi, M., Sleegers, K., Sterbova, K., Syrbe, S., Traverso, M., Tzschach, A., Uldall, P., Coster, R. van, Verhelst, H., Viri, M., Winter, S., Wolff, M., Zenker, M., Zoccante, L., Jonghe, P. De, Helbig, I., Striano, P., Lemke, J.R., Moller, R.S., Weckhuysen, S., Stamberger, H., Nikanorova, M., Willemsen, M.H., Accorsi, P., Angriman, M., Baier, H., Benkel-Herrenbrueck, I., Benoit, V., Budetta, M., Caliebe, A., Cantalupo, G., Capovilla, G., Casara, G., Courage, C., Deprez, M., Destree, A., Dilena, R., Erasmus, C.E., Fannemel, M., Fjaer, R., Giordano, L., Helbig, K.L., Heyne, H.O., Klepper, J., Kluger, G.J., Lederer, D., Lodi, M., Maier, O., Merkenschlager, A., Michelberger, N., Minetti, C., Muhle, H., Phalin, J., Ramsey, K., Romeo, A., Schallner, J., Schanze, I., Shinawi, M., Sleegers, K., Sterbova, K., Syrbe, S., Traverso, M., Tzschach, A., Uldall, P., Coster, R. van, Verhelst, H., Viri, M., Winter, S., Wolff, M., Zenker, M., Zoccante, L., Jonghe, P. De, Helbig, I., Striano, P., Lemke, J.R., Moller, R.S., and Weckhuysen, S.

Abstract

Contains fulltext : 168130.pdf (publisher's version ) (Closed access), OBJECTIVE: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients. METHODS: We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a systematic literature search to review the phenotypes of all previously reported patients. RESULTS: We describe the phenotypic features of 147 patients with STXBP1-E including 45 previously unreported patients with 33 novel STXBP1 mutations. All patients have intellectual disability (ID), which is mostly severe to profound (88%). Ninety-five percent of patients have epilepsy. While one-third of patients presented with Ohtahara syndrome (21%) or West syndrome (9.5%), the majority has a nonsyndromic early-onset epilepsy and encephalopathy (53%) with epileptic spasms or tonic seizures as main seizure type. We found no correlation between severity of seizures and severity of ID or between mutation type and seizure characteristics or cognitive outcome. Neurologic comorbidities including autistic features and movement disorders are frequent. We also report 2 previously unreported adult patients with prominent extrapyramidal features. CONCLUSION: De novo STXBP1 mutations are among the most frequent causes of epilepsy and encephalopathy. Most patients have severe to profound ID with little correlation among seizure onset, seizure severity, and the degree of ID. Accordingly, we hypothesize that seizure severity and ID present 2 independent dimensions of the STXBP1-E phenotype. STXBP1-E may be conceptualized as a complex neurodevelopmental disorder rather than a primary epileptic encephalopathy.

Published
2016

22. Family study of epilepsy in first degree relatives: data from the Italian Episcreen Study

Author

Bianchi, A., Viaggi, S., Chiossi, E., Giallonardo, Anna Teresa, Montagnini, A., Berloffa, S., Cogo, S., Vignoli, A., Saltarelli, A., Zambreli, E., Cusani Visconti, E., Beffa Negrini, P., Cardinale, F., Viri, M., Croce, C., Fittipaldi, F., Di Bonaventura, C., Muzzi, F., Izzi, F., Pachatz, C., Cilio, R., Del Priore, D., Piacenti, A., Pulitano, P., Sartori, I., Politini, L., Zanotta, N., Tripodi, M., Gattuso, C., Riguzzi, P., Cerullo, A., Bisulli, F., Meo, R., Caravaglios, G., Buzzi, G., Magnani, F., Panozzo, M. T., Garofalo, P., Mastrangelo, M., Pastorino, G., Zucca, C., Radice, L., Spreafico, G., Laneve, A., Mazzeo, M. R., Specchio, L. M., Vetro, A., Amodeo, G., Calzolari, S., De Marco, P., Piccinelli, P., Balottin, U., Romano, V., Paciello, M., Girelli, L., Germano, M., Jussi, M. I., Lazzaro, A. T., Bellini, A., Moretti, P., Minicucci, F., Comi, G., Cavaliere, B., Scarpa, P., Gessaroli, M., Rasi, F., Tripaldelli, B., Gigante, N., Interno, S., Cocuzza, D., Pavone, L., Vanadia, F., Consolo, F., D'Agostino, V., Rasmini, P., Besana, D., Paci, C., Buongarzone, M. P., Onofri, M., De Maria, G., Parola, S., Antonini, L., Vecchi, M., Boniver, C., Pezzella, F., Colicchio, G., Vaccario, M. L., Mazza, S., Brinciotti, Mario, Benedetti, P., Acquafondata, C., Battaglia, D., Guzzetta, F., Panzetta, A., and Bacchi, O.

Subjects
Adult, Male, Proband, Pediatrics, medicine.medical_specialty, Adolescent, Offspring, Clinical Neurology, Epilepsy, medicine, Humans, epilepsy, family history, standardised morbidity ratio, Family, First-degree relatives, Family history, Child, Aged, business.industry, Infant, Newborn, Infant, General Medicine, Middle Aged, medicine.disease, Italy, Neurology, Child, Preschool, Etiology, Lower prevalence, Female, Observational study, Neurology (clinical), business
Abstract

Objective: To evaluate the family history of epilepsy in first degree relatives of probands with epilepsy. Methods: A sample of 10787 patients with epilepsy with complete information about first degree relatives (parents, siblings and offspring) was selected from the database of the Episcreen Project, the largest Italian observational study on epilepsy. Family history was assessed by: (1) prevalence estimates of epilepsy among proband's relatives, (2) modified cumulative risks (MCR), adjusted using proband's age as censoring time in life tables, (3) standardised morbidity ratios (SMR), using a sub-group of symptomatic epilepsies as control group. Results: Patients (9.1%) had a family history of epilepsy. The overall prevalence of epilepsy among first degree relatives was 2.6%. Idiopathic generalised epilepsies had the highest prevalence (5.3%). Cryptogenetic epilepsies had a lower prevalence (2.1%) than idiopathic epilepsies, but higher then symptomatic epilepsies (1.5%), both in generalised and focal forms (3.8% vs. 2.0% and 1.8% vs. 1.3%). A similar tendency was detected using MCR and SMR, with the higher values of risks/ratios for idiopathic and generalised epilepsies. Probands with idiopathic generalised epilepsies were highly concordant with respect to their relatives' type of epilepsy. Considering other strata factors, risks were higher in proband's epilepsies with an onset less then 14 years of age, while sex played no definite role in differentiating the family history. Conclusions: The Episcreen model permits a variety of stratification factors to measure family risk, including age at onset, epilepsy localisation and aetiology with a large sample of more than 10000 probands and 1065/40544 relatives affected and classified.

Published
2003

23. A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome)

Author

STRIANO, PASQUALE, STRIANO, SALVATORE, Sofia V, Capovilla G, Rubboli G, Di Bonaventura C, Coppola A, Vitale G, Fontanillas L, Giallonardo AT, Biondi R, Romeo A, Viri M, Zara F, COPPOLA, ANTONIETTA, Striano, Pasquale, Sofia, V, Capovilla, G, Rubboli, G, Di Bonaventura, C, Coppola, A, Vitale, G, Fontanillas, L, Giallonardo, At, Biondi, R, Romeo, A, Viri, M, Zara, F, Striano, Salvatore, and Coppola, Antonietta

Subjects
Male, Myoclonus, Levetiracetam, aeds, medicine.medical_treatment, Epilepsies, Myoclonic, Pilot Projects, Comorbidity, Epilepsies, Epilepsy, drug effects/physiopathology, ema, epilepsy, jeavons syndrome, levetiracetam, analogs /&/ derivatives/therapeutic use, Child, education.field_of_study, Syndrome, Jeavons syndrome, medicine.anatomical_structure, Absence, Treatment Outcome, Neurology, Anesthesia, Combination, Drug Therapy, Combination, Anticonvulsants, Female, medicine.symptom, medicine.drug, Adult, Adolescent, Population, Epilepsy, Reflex, Central nervous system disease, Drug Therapy, drug therapy/epidemiology/physiopathology, Reflex, medicine, Humans, education, business.industry, Adolescent, Adult, Anticonvulsants, therapeutic use, Child, Comorbidity, Drug Therapy, Combination, Epilepsies, Myoclonic, drug therapy/epidemiology/physiopathology, Epilepsy, drug therapy/epidemiology/physiopathology, Eyelids, drug effects/physiopathology, Female, Follow-Up Studies, Humans, Male, Myoclonus, drug therapy/epidemiology/physiopathology, Pilot Projects, Piracetam, analogs /&/ derivatives/therapeutic use, Syndrome, Treatment Outcome, Eyelids, medicine.disease, Piracetam, Anticonvulsant, Epilepsy, Absence, therapeutic use, Neurology (clinical), Eyelid, business, Follow-Up Studies
Abstract

Summary Objective: Eyelid myoclonia with absences (EMA) or Jeavons syndrome characterized by eyelid myoclonia (EM) (with or without absences), eye closure-induced EEG paroxysms, and photosensitivity. We conducted an open-label trial of levetiracetam in EMA. Patients and Methods: Patients were recruited in different Italian Epilepsy Centres. Levetiracetam was administrated at starting dose of 10 mg/kg/day up to 50–60 mg/kg/day in two doses. Treatment period included a 5–6 week up-titration phase and a 12-week evaluation phase. The number of days with EM (i.e., days with seizures, DwS) and number of generalized tonic–clonic seizures (GTCS) were evaluated. Analysis of intent-to-treat population was performed using Fisher's and Wilcoxon tests. Results: Thirty-five patients (23 F) with a mean age of 19 ± 6 years were recruited. Twenty-seven had previously undergone one to five adequate trials of antiepileptic drugs. The median number of DwS/month was 12 ± 8.2. Twenty-one patients experienced GTCS (median number/month: 1 ± 0.2). Thirty-four subjects completed the trial. Levetiracetam was well tolerated (mean dose: 1985 mg/day). Responders were 28/35 (80%) patients, nine taking levetiracetam as monotherapy. Six patients were seizure-free, 15 had ≥75% and seven >50% seizure reduction. GTCS remitted in 14 out of 21 (66.6%) patients. The number/month of DwS (median: 12 vs 5; p = 0.0001) and of GTCS (median: 1 vs 0; p = 0.0001) decreased compared to baseline period. Disappearance or clear reduction in paroxysmal abnormalities at eye closure occurred in 20 of the responders and photoparoxysmal response in 19. Mean follow-up was 23.9 ± 18.5 months. Conclusion: Levetiracetam is effective and well tolerated in EMA. Placebo-controlled studies should confirm these findings.

Published
2008

24. Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations

Author

Canafoglia, L., Gennaro, E., Capovilla, G., Gobbi, G., Boni, A., Beccaria, F., Viri, M., Michelucci, R., Agazzi, P., Assereto, S., Coviello, D. A., Di Stefano, M., Rossi Sebastiano, D., Franceschetti, S., and Zara, F.

Subjects
Adult, Male, Heterozygote, Adolescent, Messenger, DNA Mutational Analysis, Young Adult, INDEL Mutation, Unverricht-Lundborg Syndrome, Evoked Potentials, Auditory, Brain Stem, Humans, Immunoprecipitation, Point Mutation, Absences with myoclonic components, Compound heterozygous EPM1A, Progressive myoclonus epilepsy, Unverricht-Lundborg disease, Acoustic Stimulation, Cystatin B, Electrodiagnosis, Electroencephalography, Magnetic Resonance Imaging, Neurologic Examination, RNA, Messenger, Retrospective Studies, Phenotype, Evoked Potentials, Auditory, RNA, Brain Stem
Abstract

Unverricht-Lundborg disease (EPM1A) is frequently due to an unstable expansion of a dodecamer repeat in the CSTB gene, whereas other types of mutations are rare. EPM1A due to homozygous expansion has a rather stereotyped presentation with prominent action myoclonus. We describe eight patients with five different compound heterozygous CSTB point or indel mutations in order to highlight their particular phenotypical presentations and evaluate their genotype-phenotype relationships.We screened CSTB mutations by means of Southern blotting and the sequencing of the genomic DNA of each proband. CSTB messenger RNA (mRNA) aberrations were characterized by sequencing the complementary DNA (cDNA) of lymphoblastoid cells, and assessing the protein concentrations in the lymphoblasts. The patient evaluations included the use of a simplified myoclonus severity rating scale, multiple neurophysiologic tests, and electroencephalography (EEG)-polygraphic recordings. To highlight the particular clinical features and disease time-course in compound heterozygous patients, we compared some of their characteristics with those observed in a series of 40 patients carrying the common homozygous expansion mutation observed at the C. Besta Foundation, Milan, Italy.The eight compound heterozygous patients belong to six EPM1A families (out of 52; 11.5%) diagnosed at the Laboratory of Genetics of the Galliera Hospitals in Genoa, Italy. They segregated five different heterozygous point or indel mutations in association with the common dodecamer expansion. Four patients from three families had previously reported CSTB mutations (c.67-1GC and c.168+1_18del); one had a novel nonsense mutation at the first exon (c.133CT) leading to a premature stop codon predicting a short peptide; the other three patients from two families had a complex novel indel mutation involving the donor splice site of intron 2 (c.168+2_169+21delinsAA) and leading to an aberrant transcript with a partially retained intron. The protein dose (cystatin B/β-actin) in our heterozygous patients was 0.24 ± 0.02, which is not different from that assessed in patients bearing the homozygous dodecamer expansion. The compound heterozygous patients had a significantly earlier disease onset (7.4 ± 1.7 years) than the homozygous patients, and their disease presentations included frequent myoclonic seizures and absences, often occurring in clusters throughout the course of the disease. The seizures were resistant to the pharmacologic treatments that usually lead to complete seizure control in homozygous patients. EEG-polygraphy allowed repeated seizures to be recorded. Action myoclonus progressively worsened and all of the heterozygous patients older than 30 years were in wheelchairs. Most of the patients showed moderate to severe cognitive impairment, and six had psychiatric symptoms.EPM1A due to compound heterozygous CSTB mutations presents with variable but often markedly severe and particular phenotypes. Most of our patients presented with the electroclinical features of severe epilepsy, which is unexpected in homozygous patients, and showed frequent seizures resistant to pharmacologic treatment. The presence of variable phenotypes (even in siblings) suggests interactions with other genetic factors influencing the final disease presentation.

Published
2012

25. Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences

Author

Labate, A., Tarantino, P., Viri, M., Mumoli, L., Gagliardi, M., Romeo, A., Zara, F., Annesi, G., and Gambardella, A.

Subjects
Adult, Male, Adolescent, Benign Neonatal, Nerve Tissue Proteins, Young Adult, Chorea, Intellectual Disability, Paroxysmal kinesigenic dyskinesia, Humans, Child, Genetic Association Studies, Family Health, Epilepsy, Benign familial infantile convulsion, Mental retardation, Mutation analysis, PRRT2, Ataxia, Epilepsy, Benign Neonatal, Female, Homozygote, Membrane Proteins, Mutation, Phenotype
Abstract

Heterozygous mutations of PRRT2, which encodes proline-rich transmembrane protein 2, are associated with heterogeneous phenotypes including benign familial infantile seizures (BFIS), or familial paroxysmal kinesigenic dystonia (PKD). We report a consanguineous Italian family with BFIS/PKD phenotype that contained 14 living members with 6 affected individuals (four men, ranging in age from 6-44 years). We identified the reported c.649dupC (p.Arg217ProfsX8) mutation of PRRT2 gene that cosegregated with the disease and was not observed in 100 controls of matched ancestry. Four patients with BFIS phenotype were heterozygous for this mutation, including the consanguineous parents of the two affected brothers with more severe phenotypes of BFIS/PKD--mental retardation, episodic ataxia, and absences--who were the only individuals to carry a homozygous c.649dupC mutation. This family provides strong evidence that homozygous PRRT2 mutations give rise to more severe clinical disease of mental retardation, episodic ataxia, and absences, and, thus, enlarges the clinical spectrum related to PRRT2 mutations. Moreover, it suggests an additive effect of double dose of the genetic mutation and underscores the complexity of the phenotypic consequences of mutations in this gene.

Published
2012

26. Satisfaction with antiepileptic drugs in children and adolescents with newlydiagnosed and chronic epilepsy

Author

Beghi, E, Messina, P, Pupillo, E, Crichiutti, G, Baglietto, Mg, Veggiotti, P, Zamponi, N, Casellato, S, Margari, L, Cianchetti, C, Collaborators: Giussani G, TASCA Study G. r. o. u. p., Lanzarotti, C, Mattana, F, Assalone, C, Vari, Ms, Prato, G, Brustia, F, Lunghi, S, Olivotto, S, Cesaroni, E, Cappanera, S, Simula, D, Chillotti, I, Pisano, T, Pruna, D, Lucarelli, E, Bonanni, P, Micoli, B, Ferrari, Ar, Valvo, G, Parmeggiani, A, Tedde, Mr, Conti, S, Tortorella, Gaetano, Briguglio, Marilena, Coppola, G, D'Aniello, A, Capovilla, G, Beccaria, F, Cagdas, S, Besana, D, Rasmini, P, Caldognetto, M, Martini, A, Romeo, A, Viri, M, Lodi, M, Gobbi, G, Boni, A, Germano, M, Tiberti, A, Battaglia, S, Micheli, R, Galli, J, Capizzi, G, and Pieri, I.

Published
2012

28. A new Italian instrument for the assessment of irritability in patients with epilepsy

Author

Piazzini, A, Turner, K, Edefonti, V, Bravi, F, Canevini, M. P., Chifari, R, Romeo, A, Viri, M, La Neve, A, Francavilla, T, Lamberti, P, Mecarelli, O, Magaudda, Adriana, Gugliotta, SIMONA CORINNA, Gambardella, A, Labate, A, Ferlazzo, E, Rocchi, R, Pucci, B, Vatti, G, Sicilia, I, Iudice, A, Pelliccia, V, and Ferrarono, M.

Subjects
Adult, Male, medicine.medical_specialty, Psychometrics, Population, MEDLINE, psychometric properties, Irritability, External validity, Behavioral Neuroscience, Epilepsy, Disability Evaluation, new italian instrument, Surveys and Questionnaires, medicine, Humans, irritability, In patient, Psychiatry, education, education.field_of_study, epilepsy, Adult patients, Aggression, Reproducibility of Results, Middle Aged, medicine.disease, Irritable Mood, Neurology, Italy, Female, Neurology (clinical), medicine.symptom, Psychology, Clinical psychology
Abstract

The purpose of the work described in this article was to analyze the psychometric properties of a new Italian instrument for the assessment of irritability in adult patients with epilepsy (I-Epi). Five hundred four patients from nine secondary and tertiary Italian centers for the care of epilepsy were recruited and interviewed. Each patient was evaluated on a series of demographic and clinical variables recorded before administration of the I-Epi and the AQ (Aggression Questionnaire), used for external validity. The final results supported the reliability and validity of the I-Epi as a measure of irritability in the adult epilepsy population. The psychometric characteristics of the I-Epi seemed fairly good. We believe that adoption of this new instrument could be very useful in both clinical and research management of patients with epilepsy.

Published
2011

29. Treatment of first tonic-clonic seizure does not affect mortality: long-term follow-up of a randomised clinical trial

Author

Leone, Ma, Vallalta, R, Solari, A, Beghi, E, Hauser, Wa, Fratiglioni, L, Bogliun, G, DEL FELICE, Alessandra, Aloisi, P, Marelli, A, Porto, C, Fusi, L, Francesconi, C, Gambaro, P, Basso, P, Freschi, R, Meregalli, S, Boati, E, Mamoli, A, Gavalotti, B, Camerlingo, M, Rottoli, Mr, Bottacchi, E, Carenini, L, Sironi, L, Casara, Gl, Vecchi, M, Covezzi, E, Tortorici, G, Franzoni, E, Marchiani, V, Moscano, F, Giuliani, G, Angeleri, Va, Polonara, S, Terziani, S, Quattrini, A, Ortenzi, A, Paggi, A, Iemolo, F, Geda, C, Ferrari, Gf, Binetti, Ma, Martini, A, Perenchio, Mt, Malvezzi, L, Tabladon, G, Severi, S, Zolo, P, Montano, V, Fassio, F, Vignolo, L, Pasolini, Mp, Antonini, L, De Maria, G, Rossi, G, Tonini, C, Cittani, D, Zagnoni, Pg, Clerici, D, Romeo, A, Viri, M, Lodi, M, Mazza, S, Vaccario, Ml, De Mattei, M, Cremo, R, Zaina, P, Gentile, S, Lovera, N, Piazza, D, Ravetti, C, Cavestro, C, Rosettani, P., Leone MA, Vallalta R, Solari A, Beghi E, FIRST Group [.., Franzoni E, and ]

Subjects
Male, Time Factors, long-term follow-up, Electroencephalography, law.invention, Epilepsy, Randomized controlled trial, law, Recurrence, Risk Factors, Young adult, Family history, Child, first tonic-clonic seizure, medicine.diagnostic_test, treatment, clinical trial, Middle Aged, Magnetic Resonance Imaging, first tonic–clonic seizure, seizure, Settore MED/26 - NEUROLOGIA, Psychiatry and Mental health, Treatment Outcome, Child, Preschool, Anticonvulsants, Female, Adult, medicine.medical_specialty, Adolescent, antiepileptic treatment, Neurological examination, Young Adult, Seizures, Internal medicine, medicine, Humans, business.industry, medicine.disease, mortality, Surgery, Clinical trial, tonic-clonic seizure, Etiology, Neurology (clinical), business, Tomography, X-Ray Computed, Follow-Up Studies
Abstract

Information on the effects of early treatment of seizures on mortality is scarce. The authors assessed the survival of patients with a first generalised tonic-clonic seizure, randomised to immediate treatment (treated) versus treatment only in the event of seizure recurrence (untreated), over a 20-year period. METHODS: The authors followed 419 patients. The median follow-up was 19.7 years (range 0.2-21.5) for a total of 7867 person-years. RESULTS: 40 persons (9.6%) died during follow-up, 19 (8.9%) treated and 21 (10.3.%) untreated. The probability of surviving was 100% at 1 year, 97% (95% CI 95% to 99%) at 5 years, 94% (91-97) at 10 years and 91% (87-95) at 20 years in treated patients and 100%, 98% (95-100), 97% (94-99) and 89% (85-94), respectively, in untreated patients (p=0.7). After adjustment for treatment of first seizure and putative risk factors (gender, age, seizure type, previous uncertain seizures, family history of seizures, pre-, peri- and postnatal risk factors, remote aetiological factors for epilepsy, abnormal neurological examination, CT or MRI abnormalities, EEG abnormalities and acute treatment), only the presence of aetiological factors for epilepsy predicted a higher mortality (HR 3.4, 95% CI 2.5 to 4.3%; p

Published
2011

30. EPILEPSY IN RETT SYNDROME

Author

Pintaudi, M., Vignoli, A., Baglietto, MARIA GIUSEPPINA, Hayek, J., Buoni, S., Labriola, F., Parodi, E., Aiello, F., Galli, J., Giordano, L., Viri, M., Romeo, A., Russo, S., Renieri, A., Veneselli, EDVIGE MARIA, and Canevini, M. P.

Published
2009

31. Ictal impending danger--'sixth sense seizures'--in patients with benign focal epileptic seizures of adolescence

Author

Romeo A, Chifari R, Capovilla G, Viri M, Lodi M, Dell'Oglio V, Beccaria F, and Gambardella A.

Abstract

PURPOSE: We describe nine consecutive patients with diagnosis of benign focal epileptic seizures of adolescence (BFSA), who experienced an ictal sensation of impending danger. MATERIALS AND METHODS: We collected nine BFSA patients after a comprehensive clinical and laboratory investigation, video-EEG analysis and neuroimaging study. RESULTS: All patients displayed a distinct electro-clinical pattern of seizures characterized by a peculiar subjective feeling of impending danger coming from behind, followed by a coordinated behavior of "head-turning" toward the danger. This feeling was described in all patients as "a shadow behind me on one side" or "something or someone behind me". All of our patients explained that, at the beginning of their seizures, they felt an early warning of a high-risk situation. Electrophysiologic data favored a frontal origin of these seizures. CONCLUSION: We have described for the first time a distinct electro-clinical pattern of seizures in the context of BFSA, characterized by the ictal feeling of early warning of a high-risk situation, which we thought to term "sixth sense seizure". In the light of current neuro-anatomical knowledge, seizure discharge within anterior cingulate cortex (ACC) structures is the likely explanation for this situation. Further studies are needed to establish if this is an electroclinical variant of BFSA or a new distinct epileptic syndrome.

Published
2008

36. Impact of Idiopathic Epilepsy on Mothers and Fathers: Strain, Burden of Care, Worries and Perception of Vulnerability

Author

Ramaglia, G, Romeo, A, Viri, M, Lodi, M, Sacchi, S, Cioffi, G, Cioffi, G., SACCHI, SIMONA, Ramaglia, G, Romeo, A, Viri, M, Lodi, M, Sacchi, S, Cioffi, G, Cioffi, G., and SACCHI, SIMONA

Abstract

The purpose of the study was to examine the impact of idiopathic epilepsy on mothers and fathers in terms of strain, burden of care, worries and perception of vulnerability. Data were collected and analyzed shortly after the diagnosis (T0) and 12 months later (T1). The results indicated that at T0 parents of children with epilepsy showed higher levels of worries and perception of vulnerability than controls; mothers sustained a greater burden of care and exhibited higher levels of strain than fathers. At T1, strain and perception of vulnerability decreased both for mothers and fathers, while burden of care and worries remained stable. At T0 and T1, strain was associated with parents’ perception of vulnerability and anxiety for their children’s future.

Published
2007

37. Felbamate in therapy-resistant epilepsy: An Italian experience

Author

Avanzini, G, Canger, R, Dallabernardina, B, Vigevano, F, Aguglia, U, Albano, C, Antonini, L, Battaglia, S, Battino, D, Benna, P, Besana, D, Antonelli, C, Binelli, S, Biondi, R, Boniver, C, Buti, D, Canziani, F, Capovilla, G, Casara, G, Casazza, M, Cernibori, A, Chindemi, A, Cianchetti, C, Cilio, Mr, Coppola, G, Cremonte, M, Dagostino, V, Daniele, O, Demarco, P, Demaria, G, Dicosmo, F, Diperri, R, Durisotti, C, Elia, M, Fois, A, Fontana, E, Franceschetti, S, Gaggero, R, Galeone, D, Gallitto, Giuseppe, Gianelli, L, Rossi, Pg, Giubergia, S, Gobbi, G., Guarneri, B., La Selva, L., Lanzi, G., Laurienzo, P., Lenti, C., Lunardi, G., Magaudda, A., Mangano, S., Marchini, C., Mecarelli, O., Michelucci, R., Muscas, G. C., Musetti, L., Musolino, R., Mutani, R., Parmeggiani, A., Pascotto, A., Pasquinelli, A., Pelliccia, A., Perniola, T., Pisani, F., Porta, M., Radice, L., Ricci, G. F., Ricci, S., Romeo, A., Rozza, L., Rozzi, N., Santucci, M., Sardella, M., Sasso, E., Severi, S., Sgrò, V., Sofia, V., Specchio, L., Spreafico, R., Striano, S., Tassinari, C., Tiacci, C., Tiberti, A., Tinuper, P., Torelli, D., Tortorella, G., Valseriati, D., Veggiotti, P., Viani, F., Vignoli, A., Viri, M., Volpi, L., Zaccara, G., Zagnoni, P., Zambrino, A., Zappoli, R., Zucca, C., Zuddas, A., Bonardi, R., Jensen, P, Kwan, R., and Teoh, N.

Published
1996

38. Peripheral markers of the gamma-aminobutyric acid (GABA)ergic system in Angelman's syndrome

Author

Borgatti, R, Piccinelli, P, Passoni, D, Romeo, A, Viri, M, Musumeci, S, Elia, M, Cogliati, T, Valseriati, D, Grasso, R, Raggi, M, Ferrarese, C, Musumeci, SA, Raggi, ME, FERRARESE, CARLO, Borgatti, R, Piccinelli, P, Passoni, D, Romeo, A, Viri, M, Musumeci, S, Elia, M, Cogliati, T, Valseriati, D, Grasso, R, Raggi, M, Ferrarese, C, Musumeci, SA, Raggi, ME, and FERRARESE, CARLO

Abstract

It has recently been demonstrated that patients with Angelman's syndrome who exhibited a deletion on cytogenetic tests show more severe clinical pictures with drug-resistant epilepsy than patients with Angelman's syndrome not carrying the deletion. To verify if this difference in clinical severity can be attributed to genes for the three gamma-aminobutyric acid (GABA)A receptor subunits (GABRB3, GABRA5, GABRG3) located in the deleted region, a possible modification of peripheral markers of the GABAergic system was investigated in 12 subjects with Angelman's syndrome and 20 age-matched subjects (8 with idiopathic epilepsy and 12 not affected by neurologic diseases). The results confirmed a more severe clinical picture, and epilepsy syndrome in particular, in Angelman's syndrome patients with deletions versus patients without deletions. In contrast, biochemical study (based on dosage of plasma levels of GABA and diazepam binding inhibitor, an endogenous ligand of GABAA and peripheral benzodiazepine receptors, showed contradictory results: patients with Angelman's syndrome showed significantly higher levels of GABA and diazepam binding inhibitor than patients without neurologic impairment but significantly lower levels than epileptic controls.

Published
2003

41. An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy

Author

Striano, P., primary, Coppola, A., additional, Pezzella, M., additional, Ciampa, C., additional, Specchio, N., additional, Ragona, F., additional, Mancardi, M. M., additional, Gennaro, E., additional, Beccaria, F., additional, Capovilla, G., additional, Rasmini, P., additional, Besana, D., additional, Coppola, G. G., additional, Elia, M., additional, Granata, T., additional, Vecchi, M., additional, Vigevano, F., additional, Viri, M., additional, Gaggero, R., additional, Striano, S., additional, and Zara, F., additional

Published
2007
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42. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

Author

Sheen, V. L., primary, Jansen, A., additional, Chen, M. H., additional, Parrini, E., additional, Morgan, T., additional, Ravenscroft, R., additional, Ganesh, V., additional, Underwood, T., additional, Wiley, J., additional, Leventer, R., additional, Vaid, R. R., additional, Ruiz, D. E., additional, Hutchins, G. M., additional, Menasha, J., additional, Willner, J., additional, Geng, Y., additional, Gripp, K. W., additional, Nicholson, L., additional, Berry-Kravis, E., additional, Bodell, A., additional, Apse, K., additional, Hill, R. S., additional, Dubeau, F., additional, Andermann, F., additional, Barkovich, J., additional, Andermann, E., additional, Shugart, Y. Y., additional, Thomas, P., additional, Viri, M., additional, Veggiotti, P., additional, Robertson, S., additional, Guerrini, R., additional, and Walsh, C. A., additional

Published
2005
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47. Prevalence of Anti-cardiolipin, Anti-β2 Glycoprotein I, and Anti-prothrombin Antibodies in Young Patients with Epilepsy.

Author

Cimaz, R, Romeo, A, Scarano, A, Av&cbreve;in, T, Viri, M, Veggiotti, P, Gatti, A, Lodi, M, Catelli, L, Panzeri, P, Cecchini, G, and Meroni, P. L

Subjects
CARDIOLIPIN, GLYCOPROTEINS, PEOPLE with epilepsy
Abstract

Summary: Purpose: To measure anti-cardiolipin (aCL), anti-β2 glycoprotein I (anti-β2GPI), and anti-prothrombin (aPT) antibodies in young patients with epilepsy, and to correlate their presence with demographic data, clinical diagnoses, laboratory and neuroradiologic findings, and antiepileptic drugs (AEDs). Methods: Sera from one hundred forty-two consecutive patients with epilepsy with a median age of 10 years were tested for aCL and anti-β2GPI autoantibodies by solid-phase assays. aPT antibodies also were assayed in sera from 90 patients. Positive results were confirmed after a minimum of 6 weeks. Antinuclear antibodies (ANAs) and antibodies against extractable nuclear antigens (ENAs) also were tested. Results: An overall positivity of 41 (28.8%) of 142 sera was found. Fifteen patients were positive for aCL, 25 for anti-β2GPI, and 18 for aPT antibodies. Several patients (12%) displayed more than one specificity in their serum. Only one of these patients had a concurrent positivity for ANAs and ENAs. A predominance of younger patients was found in the antibody-positive group. All types of epilepsy were represented in the positive group. No relation between antibody positivity and AEDs was found. Diffuse ischemic lesions at computed tomography (CT)/magnetic resonance imaging (MRI) scans were present in higher percentages in patients who were antibody positive. No positive patient had a history of previous thrombosis or other features related to systemic lupus erythematosus (SLE), and no patient was born of a mother with SLE. Conclusions: Our study suggests a relation between epilepsy and aPL in young patients. A pathogenetic role for these autoantibodies cannot be excluded, and their determination might prove useful even from a therapeutic point of view. [ABSTRACT FROM AUTHOR]

Published
2002
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48. Cost-of-illness of epilepsy in Italy: Data from a multicentre observational study (Episcreen)

Author

Berto, P., Tinuper, P., Viaggi, S., Buzzi, G., Bianchi, A., Zolo, P., Riguzzi, P., Volpi, L., Michelucci, R., Tassinari, C. A., Cerullo, A., Lugaresi, E., Di Perri, R., adriana magaudda, Gallitto, G., Gattuso, C., Musolino, R., Tripodi, M., Saltarelli, A., Vignoli, A., Canger, R., Viri, M., Romeo, A., Cusani Visconti, E., Franceschetti, S., Avanzini, G., Tassi, L., Cardinale, F., Munari, C., Meo, R., Striano, S., Caravaglios, G., Daniele, O., Piccoli, F., Sartori, S., Tartara, A., Cilio, R., Fusco, L., Vigevano, F., Di Bonaventura, C., Fittipaldi, F., Giallonardo, A. T., Manfredi, M., Muzzi, F., Del Priore, D., Feo, M. R., Mecarelli, O., Montagnini, A., Fontana, E., and Dalla Bernardina, B.

49. ILAE classification of epilepsies: Its applicability and practical value of different diagnostic categories

Author

Avanzini, G., Franceschetti, S., Binelli, S., Panzica, F., Granata, T., Canger, R., Maria Paola Canevini, Sgrò, V., Viani, F., Romeo, A., Viri, M., Guareschi Cazzullo, A., Lenti, C., Beghi, E., Bogliun, G., Montanini, R., Basso, P. F., Tartara, A., Manni, R., Galimberti, C. A., Zacchetti, O., Guarneri, M., Arisi, A., Mironi, F., Marchini, M., Cernibori, A., Costa, P., Defanti, C. A., Boati, E., Antonini, L., Guarneri, B., Menegatti, E., Tiberti, A., and Valseriati, D.

50. A prospective randomized study on the clinical impact of therapeutic drug monitoring in patients with newly diagnosed epilepsy: Interim evaluation | Studio prospettico randomizzato sull'impatto clinico del monitoraggio terapeutico dei farmaci antiepilettici in pazienti con epilessia di recente diagnosi: Valutazione ad interim

Author

Bottacchi, E., Carenini, E., Boati, E., Porazzi, D., Grampa, G., Guerrini, R., Ferrari, A., Belmonte, A., Coppola, G., Scarpello, R., Zagnoni, P. G., Luca, G., Zaccara, G., Borgheresi, A., Viani, F., Viri, M., Mutani, R., Naldi, P., Gianelli, M., Benetello, P. P., Tartara, A., Galimberti, C., Manni, R., Sartori, I., Murri, L., Galli, R., Gneri, C., Ruggeri, S., Bramante, L., Gobbi, G., Bertani, G., pini antonella, Benedetti, P., Brinciotti, M., Giannotti, F., Mazza, S., Vaccario, M. L., Moro, E., Monaco, F., Rocchi, R., Carapelli, S., Morgando, E., Cremo, R., Mattei, M., Moscato, D., Sacerdote, I., Gentile, S., Zola, Nobili, M., Vivalda, L., Leotta, D., Bongiovanni, L. G., Benedetti, M. D., and Nappo, A.

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