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3. 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

4. Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

Author

Stamberger, H, Crosiers, D, Balagura, G, Bonardi, CM, Basu, A, Cantalupo, G, Chiesa, V, Christensen, J, Dalla Bernardina, B, Ellis, CA, Furia, F, Gardiner, F, Giron, C, Guerrini, R, Klein, KM, Korff, C, Krijtova, H, Leffner, M, Lerche, H, Lesca, G, Lewis-Smith, D, Marini, C, Marjanovic, D, Mazzola, L, Ruggiero, SM, Mochel, F, Ramond, F, Reif, PS, Richard-Mornas, A, Rosenow, F, Schropp, C, Thomas, RH, Vignoli, A, Weber, Y, Palmer, E, Helbig, I, Scheffer, IE, Striano, P, Moller, RS, Gardella, E, Weckhuysen, S, Stamberger, H, Crosiers, D, Balagura, G, Bonardi, CM, Basu, A, Cantalupo, G, Chiesa, V, Christensen, J, Dalla Bernardina, B, Ellis, CA, Furia, F, Gardiner, F, Giron, C, Guerrini, R, Klein, KM, Korff, C, Krijtova, H, Leffner, M, Lerche, H, Lesca, G, Lewis-Smith, D, Marini, C, Marjanovic, D, Mazzola, L, Ruggiero, SM, Mochel, F, Ramond, F, Reif, PS, Richard-Mornas, A, Rosenow, F, Schropp, C, Thomas, RH, Vignoli, A, Weber, Y, Palmer, E, Helbig, I, Scheffer, IE, Striano, P, Moller, RS, Gardella, E, and Weckhuysen, S

Abstract

BACKGROUND AND OBJECTIVES: Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy (STXBP1-DEE). We aimed to investigate the natural history of STXBP1-DEE in adults focusing on seizure evolution, the presence of movement disorders, and the level of functional (in)dependence. METHODS: In this observational study, patients with a minimum age of 18 years carrying a (likely) pathogenic STXBP1 variant were recruited through medical genetics departments and epilepsy centers. Treating clinicians completed clinical questionnaires and performed semistructured video examinations while performing tasks from the (modified) Unified Parkinson Disease Rating Scale when possible. RESULTS: Thirty adult patients were included for summary statistics, with video recordings available for 19 patients. The median age at last follow-up was 24 years (range 18-58 years). All patients had epilepsy, with a median onset age of 3.5 months. At last follow-up, 80% of adults had treatment-resistant seizures despite long periods of seizure freedom in 37%. Tonic-clonic, focal, and tonic seizures were most frequent in adults. Epileptic spasms, an unusual feature beyond infancy, were present in 3 adults. All individuals had developmental impairment. Periods of regression were present in 59% and did not always correlate with flare-ups in seizure activity. Eighty-seven percent had severe or profound intellectual disability, 42% had autistic features, and 65% had significant behavioral problems. Video examinations showed gait disorders in all 12 patients able to walk, including postural abnormalities with external rotation of the feet, broad-based gait, and asymmetric posture/dystonia. Tremor, present in 56%, was predominantly of the intention/action type. Stereotypies were seen in 63%. Functional outcome concerning mobility was variable ranging from independent walking (50%) to wheelchair dependence (39%). Seventy-one percent of adults were nonverbal, and all were

Published
2022

5. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Author

Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, X, Ou, J, Li, H, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, B-M, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Dalla Bernardina, B, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, P, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, Eichler, EE, Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, X, Ou, J, Li, H, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, B-M, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Dalla Bernardina, B, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, P, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, and Eichler, EE

Abstract

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E-06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E-07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype-genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.

Published
2020

6. Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real-world study

Author

Specchio, N., Pietrafusa, N., Doccini, V., Trivisano, M., Darra, F., Ragona, F., Cossu, A., Spolverato, S., Battaglia, Domenica Immacolata, Quintiliani, Michela, Luigia Gambardella, M., Rosati, Andrea, Mei, D., Granata, T., Dalla Bernardina, B., Vigevano, F., Guerrini, R., Battaglia D. (ORCID:0000-0003-0491-4021), Quintiliani M., Rosati A., Specchio, N., Pietrafusa, N., Doccini, V., Trivisano, M., Darra, F., Ragona, F., Cossu, A., Spolverato, S., Battaglia, Domenica Immacolata, Quintiliani, Michela, Luigia Gambardella, M., Rosati, Andrea, Mei, D., Granata, T., Dalla Bernardina, B., Vigevano, F., Guerrini, R., Battaglia D. (ORCID:0000-0003-0491-4021), Quintiliani M., and Rosati A.

Abstract

Objective: Dravet syndrome (DS) is a drug-resistant, infantile onset epilepsy syndrome with multiple seizure types and developmental delay. In recently published randomized controlled trials, fenfluramine (FFA) proved to be safe and effective in DS. Methods: DS patients were treated with FFA in the Zogenix Early Access Program at four Italian pediatric epilepsy centers. FFA was administered as add-on, twice daily at an initial dose of 0.2 mg/kg/d up to 0.7 mg/kg/d. Seizures were recorded in a diary. Adverse events and cardiac safety (with Doppler echocardiography) were investigated every 3 to 6 months. Results: Fifty-two patients were enrolled, with a median age of 8.6 years (interquartile range [IQR] = 4.1-13.9). Forty-five (86.5%) patients completed the efficacy analysis. The median follow-up was 9.0 months (IQR = 3.2-9.5). At last follow-up visit, there was a 77.4% median reduction in convulsive seizures. Thirty-two patients (71.1%) had a ≥50% reduction of convulsive seizures, 24 (53.3%) had a ≥75% reduction, and five (11.1%) were seizure-free. The most common adverse event was decreased appetite (n = 7, 13.4%). No echocardiographic signs of cardiac valvulopathy or pulmonary hypertension were observed. There was no correlation between type of genetic variants and response to FFA. Significance: In this real-world study, FFA provided a clinically meaningful reduction in convulsive seizure frequency in the majority of patients with DS and was well tolerated.

Published
2020

8. Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the International TOSCA Study

Author

Jansen, A.C. Belousova, E. Benedik, M.P. Carter, T. Cottin, V. Curatolo, P. D'Amato, L. D'Augères, G.B. De Vries, P.J. Ferreira, J.C. Feucht, M. Fladrowski, C. Hertzberg, C. Jozwiak, S. Lawson, J.A. MacAya, A. Marques, R. Nabbout, R. O'Callaghan, F. Qin, J. Sander, V. Sauter, M. Shah, S. Takahashi, Y. Touraine, R. Youroukos, S. Zonnenberg, B. Kingswood, J.C. Fladrowsk, C. Shinohara, N. Horie, S. Kubota, M. Tohyama, J. Imai, K. Kaneda, M. Kaneko, H. Uchida, Y. Kirino, T. Endo, S. Inoue, Y. Uruno, K. Serdaroglu, A. Yapici, Z. Anlar, B. Altunbasak, S. Lvova, O. Belyaev, O.V. Agranovich, O. Levitina, E.V. Maksimova, Y.V. Karas, A. Jiang, Y. Zou, L. Xu, K. Zhang, Y. Luan, G. Zhang, Y. Wang, Y. Jin, M. Ye, D. Liao, W. Zhou, L. Liu, J. Liao, J. Yan, B. Deng, Y. Jiang, L. Liu, Z. Huang, S. Li, H. Kim, K. Chen, P.-L. Lee, H.-F. Tsai, J.-D. Chi, C.-S. Huang, C.-C. Riney, K. Yates, D. Kwan, P. Likasitwattanakul, S. Nabangchang, C. Krisnachai Chomtho, L.T. Katanyuwong, K. Sriudomkajorn, S. Wilmshurst, J. Segel, R. Gilboa, T. Tzadok, M. Fattal-Valevski, A. Papathanasopoulos, P. Papavasiliou, A.S. Giannakodimos, S. Gatzonis, S. Pavlou, E. Tzoufi, M. Vergeer, A.M.H. Dhooghe, M. Verhelst, H. Roelens, F. Nassogne, M.C. Defresne, P. De Waele, L. Leroy, P. Demonceau, N. Legros, B. Van Bogaert, P. Ceulemans, B. Dom, L. Castelnau, P. De Saint Martin, A. Riquet, A. Milh, M. Cances, C. Pedespan, J.-M. Ville, D. Roubertie, A. Auvin, S. Berquin, P. Richelme, C. Allaire, C. Gueden, S. The Tich, S.N. Godet, B. Ruiz Falco Rojas, M.L. Planas, J.C. Bermejo, A.M. Dura, P.S. Aparicio, S.R. Martinez Gonzalez, M.J. Pison, J.L. Blanco Barca, M.O. Laso, E.L. Luengo, O.A. Aguirre Rodriguez, F.J. Dieguez, I.M. Salas, A.C. Carrera, I.M. Salcedo, E.M. Yoldi Petri, M.E. Candela, R.C. Da Conceicao Carrilho, I. Vieira, J.P. Da Silva Oliveira Monteiro, J.P. Santos De Oliveira Ferreira Leao, M.J. Marceano Ribeiro Luis, C.S. Mendonca, C.P. Endziniene, M. Strautmanis, J. Talvik, I. Canevini, M.P. Gambardella, A. Pruna, D. Buono, S. Fontana, E. Dalla Bernardina, B. Burloiu, C. Bacos Cosma, I.S. Vintan, M.A. Popescu, L. Zitterbart, K. Payerova, J. Bratsky, L. Zilinska, Z. Gruber-Sedlmayr, U. Baumann, M. Haberlandt, E. Rostasy, K. Pataraia, E. Elmslie, F. Johnston, C.A. Crawford, P. Uldall, P. Dahlin, M. Uvebrant, P. Rask, O. Bjoernvold, M. Brodtkorb, E. Sloerdahl, A. Solhoff, R. Gilje Jaatun, M.S. Mandera, M. Radzikowska, E.J. Wysocki, M. Fischereder, M. Kurlemann, G. Wilken, B. Wiemer-Kruel, A. Budde, K. Marquard, K. Knuf, M. Hahn, A. Hartmann, H. Merkenschlager, A. Trollmann, R. on behalf of TOSCA Consortium TOSCA Investigators

Abstract

The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2. © 2019 Jansen, Belousova, Benedik, Carter, Cottin, Curatolo, D'Amato, Beaure d'Augères, de Vries, Ferreira, Feucht, Fladrowski, Hertzberg, Jozwiak, Lawson, Macaya, Marques, Nabbout, O'Callaghan, Qin, Sander, Sauter, Shah, Takahashi, Touraine, Youroukos, Zonnenberg and Kingswood.

Published
2019

9. Dravet syndrome: Early electroclinical findings and long-term outcome in adolescents and adults

Author

Darra, F., Battaglia, Domenica Immacolata, Dravet, C., Patrini, Massimiliano, Offredi, F., Chieffo, Daniela Pia Rosaria, Piazza, E., Fontana, Elisa, Olivieri, Giorgia, Turrini, Ida, Dalla Bernardina, B., Granata, T., Ragona, F., Battaglia D. (ORCID:0000-0003-0491-4021), Patrini M., Chieffo D., Fontana E., Olivieri G., Turrini I., Darra, F., Battaglia, Domenica Immacolata, Dravet, C., Patrini, Massimiliano, Offredi, F., Chieffo, Daniela Pia Rosaria, Piazza, E., Fontana, Elisa, Olivieri, Giorgia, Turrini, Ida, Dalla Bernardina, B., Granata, T., Ragona, F., Battaglia D. (ORCID:0000-0003-0491-4021), Patrini M., Chieffo D., Fontana E., Olivieri G., and Turrini I.

Abstract

To describe the outcome of Dravet syndrome (DS) in adolescents and adults we conducted a longitudinal retrospective study of two independent cohorts of 34 adolescents (group 1) and 50 adults (group 2). In both cohorts, we collected information about genetic mutation, and semiology of seizures at onset and during disease course. At the last evaluation, we considered the following features: epilepsy (distinguishing myoclonic/complete and nonmyoclonic/incomplete phenotype), neurologic signs, intellectual disability (ID), and behavioral disorders. Moreover, in both cohorts, we performed a correlation analysis between early characteristics of the disease and the outcome of DS with regard to seizure persistence, ID, behavioral disorder, and neurologic impairment at last evaluation. Group 1 includes 22 adolescents with complete form of DS and 12 with incomplete form; group 2 includes 35 adults with complete form and 15 with incomplete form. The seizures persisted in 73.6% of adolescents and in 80% of adults, but epilepsy severity progressively decreased through age. Seizure persistence correlated with the complete phenotype and with the occurrence of reflex seizures. At last evaluation, ID was moderate or severe in 70.5% of adolescents and in 80% of adults. The most severe cognitive and motor impairment was observed in patients with persisting seizures. The severity of cognition, language, and neurologic impairment at last evaluation correlated statistically with the complete phenotype. The study confirms that the global outcome of DS is poor in most cases, albeit epilepsy severity decreases throughout adulthood. The improvement of epilepsy throughout ages is not associated with improvement in intellectual abilities and motor skills; this confirms that the unfavorable outcome is not a pure consequence of epilepsy.

Published
2019

11. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

Author

Shan Dong, Norio Ozaki, Ryan K. C. Yuen, David J. Cutler, Lauren A. Weiss, Catalina Betancur, Abraham Reichenberg, Hassen-Kiss E, Judith Miller, Brooke Sheppard, Yunin Ludena, Astanand Jugessur, Irva Hertz-Picciotto, Donna M. Werling, Aurora Currò, Isaac N. Pessah, Giovanni Battista Ferrero, Somer L. Bishop, Utku Norman, Nancy J. Minshew, Tarjinder Singh, Bernie Devlin, Michael E. Talkowski, Carla Lintas, Susan L. Santangelo, Miia Kaartinen, Gal Meiri, Camilla Stoltenberg, Stephen Sanders, Sherif Gerges, Michael L. Cuccaro, Ryan N. Doan, Suma Jacob, Matthew W. Mosconi, Lambertus Klei, Michael E. Zwick, Kathryn Roeder, Merete Nordentoft, Lauren M. Schmitt, John A. Sweeney, Elizabeth E. Guerrero, Kaija Puura, Alessandra Renieri, Elaine T. Lim, Maureen Mulhern, Danielle de Paula Moreira, Cicek Ae, Nell Maltman, Aparna Bhaduri, Mara Parellada, Sabine Schlitt, Diego Lopergolo, Gun Peggy Knudsen, Christina M. Hultman, Jesslyn Jamison, Rebecca J. Schmidt, So Lun Lee, Iuliana Ionita-Laza, Peter Szatmari, Gerry Schellenberg, Alfredo Brusco, Christine M. Freitag, Andreas G. Chiocchetti, Javier González-Peñas, Michael S. Breen, Jakob Grove, Ryan L. Collins, Mafalda Barbosa, Emilie M. Wigdor, Elise B. Robinson, Cathy A. Stevens, Gabriela Soares, Benjamin M. Neale, Edwin H. Cook, Jiebiao Wang, David M. Hougaard, Enrico Domenici, Gail E. Herman, Patrícia Maciel, Kaitlin E. Samocha, Preben Bo Mortensen, Stephen W. Scherer, Yu Mhc, Elaine Cristina Zachi, Menachem Fromer, Antonio M. Persico, Anders D. Børglum, Minshi Peng, Megan Smith, Elisabetta Trabetti, Rachel Nguyen, Fátima Lopes, James S. Sutcliffe, Trelles Mdp, Xinyi Xu, Emma Wilkinson, Joseph D. Buxbaum, Audrey Thurm, Chiara Fallerini, Jack A. Kosmicki, Michael Gill, Paige M. Siper, Timothy W. Yu, Grace Schwartz, Thomas Werge, Terho Lehtimäki, Itaru Kushima, Jay Gargus, Dalla Bernardina B, Hilary Coon, Maria Rita Passos-Bueno, Stephen J. Guter, Margaret A. Pericak-Vance, Matthew W. State, Per Magnus, Christopher A. Walsh, Evelise Riberi, Ezra Susser, Xin He, Aarno Palotie, Idan Menashe, Eric M. Morrow, Jonas Bybjerg-Grauholm, Pierandrea Muglia, Pål Surén, De Rubeis S, Angel Carracedo, Sven Sandin, Montse Fernández-Prieto, Lara Tang, Lipkin Wi, Ole Mors, Louise Gallagher, Montenegro M. de Souza E, Brian H.Y. Chung, Anney Rjl, Alexander Kolevzon, Dara S. Manoach, Daniel H. Geschwind, Silva Imw, Caroline Dias, Jeremy Willsey, Jennifer Reichert, Elisa Giorgio, Branko Aleksic, Flora Tassone, Satterstrom Fk, Senthil G, Karoline Teufel, Chan Mcy, Harrison Brand, Danielle Halpern, Behrang Mahjani, Mykyta Artomov, Mark J. Daly, Joon Yong An, and Lehner T

Subjects
Genetics, Regulation of gene expression, 0303 health sciences, medicine.medical_specialty, Neurogenetics, Biology, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Autism spectrum disorder, mental disorders, medicine, Autism, Medical genetics, Copy-number variation, Gene, 030217 neurology & neurosurgery, Exome sequencing, 030304 developmental biology
Abstract

SummaryWe present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n=35,584 total samples, 11,986 with ASD). Using an enhanced Bayesian framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate ≤ 0.1. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained for severe neurodevelopmental delay, while 53 show higher frequencies in individuals ascertained for ASD; comparing ASD cases with mutations in these groups reveals phenotypic differences. Expressed early in brain development, most of the risk genes have roles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and 13 fall within loci recurrently hit by copy number variants. In human cortex single-cell gene expression data, expression of risk genes is enriched in both excitatory and inhibitory neuronal lineages, consistent with multiple paths to an excitatory/inhibitory imbalance underlying ASD.

Published
2018
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12. Recessive gene disruptions in autism spectrum disorder

Author

Doan, R. N., Lim, E. T., De Rubeis, S., Betancur, C., Cutler, D. J., Chiocchetti, A. G., Overman, L. M., Soucy, A., Goetze, S., Asc, Consortium, Brusco, A., Curró, A., Fallerini, C., Lopergolo, D., Lintas, C., Domenici, E., Dalla Bernardina, B., Ferrero, G. B., Giorgio, E., Trabetti, E., Renieri, A., Riberi, E., Freitag, C. M., Daly, M. J., Walsh, C. A., Buxbaum, J. D., T. W., Yu, Dupuis, Christine, Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Icahn School of Medicine at Mount Sinai [New York] (MSSM), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Emory University School of Medicine, Emory University [Atlanta, GA], Universitätsklinikum Frankfurt, Goethe-University Frankfurt am Main, Newcastle University [Newcastle], Broad Institute [Cambridge], Harvard University [Cambridge]-Massachusetts Institute of Technology (MIT), Massachusetts General Hospital [Boston], Howard Hughes Medical Institute [Boston] (HHMI), Howard Hughes Medical Institute (HHMI)-Harvard Medical School [Boston] (HMS), Autism Sequencing Consortium, Neurosciences Paris Seine (NPS), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Biologie Paris Seine (IBPS), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Génétique de l'autisme = Genetics of Autism (NPS-01), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), and Massachusetts Institute of Technology (MIT)-Harvard University [Cambridge]

Subjects
Male, genetic structures, Autism Spectrum Disorder, [SDV]Life Sciences [q-bio], Allelic Imbalance, medicine.disease_cause, Whole Exome Sequencing, Cohort Studies, 0302 clinical medicine, Missense mutation, MESH: Cohort Studies, Exome sequencing, MESH: Autism Spectrum Disorder, Genetics, 0303 health sciences, Mutation, Genome, biology, SLC1A1, MESH: Genetic Predisposition to Disease, MESH: Case-Control Studies, [SDV] Life Sciences [q-bio], Case-Control Studies, Female, Genes, Recessive, Genome, Human, Humans, Genetic Predisposition to Disease, Mutation, Missense, Autism spectrum disorder, Human, Article, 03 medical and health sciences, MESH: Whole Exome Sequencing, mental disorders, Exome Sequencing, medicine, Recessive, Gene, MESH: Genes, Recessive, MESH: Genome, Human, 030304 developmental biology, MESH: Mutation, Missense, MESH: Humans, MESH: Allelic Imbalance, Case-control study, medicine.disease, MESH: Male, Genes, biology.protein, Missense, MESH: Female, 030217 neurology & neurosurgery
Abstract

Autism spectrum disorder (ASD) affects up to 1 in 59 individuals1. Genome-wide association and large-scale sequencing studies strongly implicate both common variants2–4 and rare de novo variants5–10 in ASD. Recessive mutations have also been implicated11–14 but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to ~5% of total cases, including 10% of females, consistent with a female protective effect. We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including the transcription factor FEV, a key regulator of the serotonergic circuitry. Our data refine estimates of the contribution of recessive mutation to ASD and suggest new paths for illuminating novel biological pathways responsible for this condition., Editorial Summary: Analysis of whole exome sequencing data from 2,343 individuals with autism spectrum disorder (ASD) compared to 5,852 unaffected individuals demonstrates an excess of biallelic, autosomal mutations for both loss-of-function and damaging missense variants.

Published
2018

13. Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

Author

Trivisano, M., Pietrafusa, N., Terracciano, A., Marini, C., Mei, D., Darra, F., Accorsi, P., Battaglia, Domenica Immacolata, Caffi, L., Canevini, M. P., Cappelletti, S., Cesaroni, E., de Palma, L., Costa, Paolo, Cusmai, R., Giordano, Liliana, Ferrari, A., Freri, E., Fusco, L., Granata, T., Martino, T., Mastrangelo, Marica, Bova, S. M., Parmeggiani, L., Ragona, F., Sicca, F., Striano, P., Specchio, L. M., Tondo, I., Zambrelli, E., Zamponi, N., Zanus, C., Boniver, C., Vecchi, M., Avolio, C., Dalla Bernardina, B., Bertini, Enrico Silvio, Guerrini, R., Vigevano, F., Specchio, N., Battaglia D. (ORCID:0000-0003-0491-4021), Costa P., Giordano L., Mastrangelo M., Bertini E., Trivisano, M., Pietrafusa, N., Terracciano, A., Marini, C., Mei, D., Darra, F., Accorsi, P., Battaglia, Domenica Immacolata, Caffi, L., Canevini, M. P., Cappelletti, S., Cesaroni, E., de Palma, L., Costa, Paolo, Cusmai, R., Giordano, Liliana, Ferrari, A., Freri, E., Fusco, L., Granata, T., Martino, T., Mastrangelo, Marica, Bova, S. M., Parmeggiani, L., Ragona, F., Sicca, F., Striano, P., Specchio, L. M., Tondo, I., Zambrelli, E., Zamponi, N., Zanus, C., Boniver, C., Vecchi, M., Avolio, C., Dalla Bernardina, B., Bertini, Enrico Silvio, Guerrini, R., Vigevano, F., Specchio, N., Battaglia D. (ORCID:0000-0003-0491-4021), Costa P., Giordano L., Mastrangelo M., and Bertini E.

Abstract

Objective: PCDH19-related epilepsy is an epileptic syndrome with infantile onset, characterized by clustered and fever-induced seizures, often associated with intellectual disability (ID) and autistic features. The aim of this study was to analyze a large cohort of patients with PCDH19-related epilepsy and better define the epileptic phenotype, genotype-phenotype correlations, and related outcome-predicting factors. Methods: We retrospectively collected genetic, clinical, and electroencephalogram (EEG) data of 61 patients with PCDH19-related epilepsy followed at 15 epilepsy centers. All consecutively performed EEGs were analyzed, totaling 551. We considered as outcome measures the development of ID, autistic spectrum disorder (ASD), and seizure persistence. The analyzed variables were the following: gender, age at onset, age at study, genetic variant, fever sensitivity, seizure type, cluster occurrence, status epilepticus, EEG abnormalities, and cognitive and behavioral disorders. Receiver operating characteristic curve analysis was performed to evaluate the age at which seizures might decrease in frequency. Results: At last follow-up (median = 12 years, range = 1.9-42.1 years), 48 patients (78.7%) had annual seizures/clusters, 13 patients (21.3%) had monthly to weekly seizures, and 12 patients (19.7%) were seizure-free for ≥2 years. Receiver operating characteristic analysis showed a significant decrease of seizure frequency after the age of 10.5 years (sensitivity = 81.0%, specificity = 70.0%). Thirty-six patients (59.0%) had ID and behavioral disturbances. ASD was present in 31 patients. An earlier age at epilepsy onset emerged as the only predictive factor for ID (P = 0.047) and ASD (P = 0.014). Conversely, age at onset was not a predictive factor for seizure outcome (P = 0.124). Significance: We found that earlier age at epilepsy onset is related to a significant risk for ID and ASD. Furthermore, long-term follow-up showed that after the age of 10 years, seizur

Published
2018

14. Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15)

Author

Matricardi, S., primary, Darra, F., additional, Spalice, A., additional, Basti, C., additional, Fontana, E., additional, Dalla Bernardina, B., additional, Elia, M., additional, Giordano, L., additional, Accorsi, P., additional, Cusmai, R., additional, De Liso, P., additional, Romeo, A., additional, Ragona, F., additional, Granata, T., additional, Concolino, D., additional, Carotenuto, M., additional, Pavone, P., additional, Pruna, D., additional, Striano, P., additional, Savasta, S., additional, and Verrotti, A., additional

Published
2018
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16. Is Aicardi Syndrome truly linked to a mutation on X-Chromosome?

Author

Cavallin, M., primary, Nitschké, P., additional, Petit, J.B., additional, Meyer, V., additional, Olaso, R., additional, Darra, F., additional, Fiorini, E., additional, Lebon, S., additional, Veggiotti, P.A., additional, Vigevano, F., additional, Gataullina, S., additional, Bourgeois, M., additional, Arzimanoglou, A., additional, Epitashvili, N., additional, Desguerre, I., additional, Dulac, O., additional, Dalla Bernardina, B., additional, and Bahi-Buisson, N., additional

Published
2017
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18. Individually tailored extratemporal epilepsy surgery in children: Anatomo-electro-clinical features and outcome predictors in a population of 53 cases

Author

Liava, A, Francione, S, Tassi, L, Lo Russo, G, Cossu, M, Mai, R, Darra, F, Fontana, E, Dalla Bernardina, B, LIAVA, ALEXANDRA, Tassi L, Dalla Bernardina, B., Liava, A, Francione, S, Tassi, L, Lo Russo, G, Cossu, M, Mai, R, Darra, F, Fontana, E, Dalla Bernardina, B, LIAVA, ALEXANDRA, Tassi L, and Dalla Bernardina, B.

Abstract

Surgery for refractory extratemporal lobe epilepsy (ETLE) in the pediatric age group has been reported to be associated with a high percentage of failure and relapse. We performed a retrospective study of 53 consecutive patients with epilepsy onset before 12. years of age, who underwent, mostly at a pediatric age, an individually tailored ETLE surgery (32 in frontal and 21 in posterior cerebral areas) for pharmacoresistant seizures; these patients were selected and followed by a single national tertiary care pediatric center. Mean age at seizure onset was 3.14. years, and mean age at surgery was 11.23. years. Complete seizure freedom was achieved in 75% of the subjects. Short duration of illness before surgery, MRI features, no invasive pre-surgical evaluation, a localized interictal and ictal pattern as well as the presence of ictal fast activity on scalp EEG, localized interictal fast rhythms and absence of a diffuse initial ictal modification during SEEG, a complete resection of the epileptogenic zone, a type II FCD, and the absence of acute postoperative seizures correlated in a statistically significant way with a seizure-free outcome. We conclude that the seizure outcome of ETLE surgery in a carefully selected pediatric population can be excellent.

Published
2012

19. Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution

Author

Agostinelli, S., Traverso, M., Accorsi, P., Beccaria, F., Belcastro, V., Capovilla, G., Cappanera, S., Coppola, A., Dalla Bernardina, B., Darra, F., Ferretti, M., Elia, M., Galeone, D., Giordano, L., Gobbi, G., Nicita, Francesco, Parisi, Pasquale, Pezzella, M., Spalice, Alberto, Striano, S., Tozzi, E., Vignoli, A., Minetti0, C., Zara, F., Striano, P., Verrotti, A., Behalf Of The Collaborative Group Of Società Italiana Di Neurologia Pediatrica, O. N., Agostinelli, S., Traverso, M., Accorsi, P., Beccaria, F., Belcastro, V., Capovilla, G., Cappanera, S., Coppola, A., Dalla Bernardina, B., Darra, F., Ferretti, M., Elia, M., Galeone, D., Giordano, L., Gobbi, G., Nicita, F., Parisi, P., Pezzella, M., Spalice, A., Striano, S., Tozzi, E., Vignoli, A., Minetti, C., Zara, F., Striano, P., and Verrotti, A.

Subjects
Male, Pediatrics, medicine.medical_specialty, Early-onset absence epilepsy, GLUT-1 deficiency syndrome, SLC2A1 gene, Group ii, Epilepsy, Childhood absence epilepsy, Pharmacotherapy, slc2a1 gene, glut-1 deficiency syndrome, early-onset absence epilepsy, Slc2a1 gene, Humans, Medicine, Family history, Retrospective Studies, Early onset, Glucose Transporter Type 1, business.industry, Retrospective cohort study, medicine.disease, Epilepsy, Absence, Neurology, Child, Preschool, Mutation, Anticonvulsants, Drug Therapy, Combination, Female, Neurology (clinical), business
Abstract

Background and purposes: To determine the prevalence of SLC2A1 mutations inchildren with early-onset absence epilepsy (EOAE) and to investigate whether therewere differences in demographic and electroclinical data between patients whobecame seizure-free with anti-epileptic drug (AED) monotherapy (group I) andthose who needed add-on treatment of a second AED (group II).Methods: We reviewed children with EOAE attended different Italian epilepsy cen-ters. All participants had onset of absence seizures within the first 3 years of life butotherwise conformed to a strict definition of childhood absence epilepsy. Mutationanalysis of SLC2A1 was performed in each patient.Results: Eighty-four children (57 in group I, 27 in group II) fulfilled the inclusioncriteria. No mutation in SLC2A1 was found. There were no statistical differencesbetween the two groups with regard to F/M ratio, age at onset of EOAE, early his-tory of febrile seizures, first-degree family history for genetic generalized epilepsy,duration of AED therapy at 3 years after enrollment, use of AEDs at 3 years, failedwithdrawals at 3 years, terminal remission of EOAE at 3 years, and 6-month fol-low-up EEG data. Mean duration of seizures/active epilepsy was significantlyshorter in group I than in group II (P = 0.008).Conclusions: We demonstrate that in a large series of children with rigorous diag-nosis of EOAE, no mutations in SLC2A1 gene are detected. Except for duration ofseizures/active epilepsy, no significant differences in demographic and electroclinicalaspects are observed between children with EOAE who responded well to AEDmonotherapy and those who became seizure-free with add-on treatment of a secondAED.

Published
2013

20. Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23) syndrome

Author

TINUPER, PAOLO, BISULLI, FRANCESCA, CEVOLANI, DANIELA, GALLASSI, ROBERTO, SERI, MARCO, Broli, M, Mastrangelo, M, Fontana, E, Fiocchi, I, Zucca, C, Bonaglia, Mc, Reitano, S, Corrado, R, Agati, R, Bernardi, B, Magini, P, Oppi, F, Poda, R, Giorda, R, Zuffardi, O, Dalla Bernardina, B., Tinuper, P, Broli, M, Bisulli, F, Mastrangelo, M, Fontana, E, Fiocchi, I, Zucca, C, Bonaglia, Mc, Reitano, S, Corrado, R, Agati, R, Bernardi, B, Cevolani, D, Gallassi, R, Magini, P, Oppi, F, Poda, R, Giorda, R, Zuffardi, O, Dalla Bernardina, B., and Seri, M

Subjects
mental retardation, speech impairment, Xp11.22-11.23
Published
2011

21. Encefalite da anticorpi anti-NMDAR in età pediatrica: dati preliminari del Gruppo di Lavoro Italiano sulle Encefaliti da Anticorpi anti-NMDAR

Author

Sartori, Stefano, Nosadini, Margherita, Toldo, Irene, Pelizza, M. F., Boniver, Clementina, Zamponi, N., Dilena, R., Cappellari, A., Cantalupo, G., Dalla Bernardina, B., Falsaperla, R., Giunta, L., Serino, D., Vigevano, F., Mancardi, M. M., Biancheri, R., Santangelo, G., Natali Sora, M. G., Pruna, D., Cesaroni, E., and Suppiej, Agnese

Published
2014

22. La gestione del bambino con convulsioni febbrili: linee guida sulle convulsioni febbrili

Author

Balestri P, Longhi R, Grosso S, Iannetti P, Pavone L, Verrotti A, Messi G, Palmieri A, Capovilla G, Mastrangelo M, Romeo A, Vigevano F, Coppola G, Dalla Bernardina B, Gobbi G, Veggiotti P, Ballestrazzi A, Del Gobbo L, Bascelli E, Masiero G, Bernardi B, Galluzzi P, De Martino M., FRANZONI, EMILIO, PARMEGGIANI, ANTONIA, ALBANI, FIORENZO, Balestri P, Longhi R, Franzoni E, Grosso S, Iannetti P, Pavone L, Verrotti A, Messi G, Palmieri A, Capovilla G, Mastrangelo M, Romeo A, Vigevano F, Coppola G, Dalla Bernardina B, Gobbi G, Parmeggiani A, Veggiotti P, Ballestrazzi A, Del Gobbo L, Bascelli E, Masiero G, Albani F, Bernardi B, Galluzzi P, and De Martino M.

Subjects
SEMPLICI, COMPLESSE, DIAZEPAM, FEBBRE, CONVULSIONI
Abstract

Le convulsioni Febbrili necessitano di una revisione nelle loro Linee Guida per dare una indicazione ai Pediatri di Famiglia ed ospedalieri a fronte della necessità di una eventuale profilassi. vengono valutate le indicazioni della letteratura internazionale per raccomandare le evidenze emerse negli ultimi anni.

Published
2008

29. FELBAMATE IN THERAPY-RESISTANT EPILEPSY: AN ITALIAN EXPERIENCE

Author

AVANZINI G, CANGER R, DALLA BERNARDINA B, VIGEVANO F, AUGUGLIA U, ALBANO C, ANTONINI L, BATTAGLIA S, BATTINO D, BENNA P, BESANA D, PASCOTTO, Antonio, Avanzini, G, Canger, R, DALLA BERNARDINA, B, Vigevano, F, Auguglia, U, Albano, C, Antonini, L, Battaglia, S, Battino, D, Benna, P, Besana, D, and Pascotto, Antonio

Published
1996

30. Risultati dello studio collaborativo sul complesso Sclerosi Tuberosa in Italia

Author

Balestri P, Bartalini G, Bianchi E, Bosio M, Calistri L, Calvieri S, Casadei G, Dalla Bernardina B, De Cosmo L, De Nardo V, DEL GIUDICE, ENNIO, Balestri, P, Bartalini, G, Bianchi, E, Bosio, M, Calistri, L, Calvieri, S, Casadei, G, Dalla Bernardina, B, De Cosmo, L, De Nardo, V, and DEL GIUDICE, Ennio

Published
1994

33. CONCORDANCE OF CLINICAL FORMS OF EPILEPSY IN FAMILIES WITH SEVERAL AFFECTED MEMBERS

Author

BIANCHI A, AVANZINI G, DALLA BERNARDINA B, CANGER R, TASSINARI CA, VIGEVANO F, TIEZZI A, BUZZI G, FANI C, DEVERMANDOIS ROSSI C, ZOLO P, ANTONELLI A, BINELLI S, BUTI D, CANEVINI MP, CARULLO A, CIARMATORI C, COPPOLA G, D'ALESSANDRO P, DE FEO MR, DI DONATO S, DURISOTTI C, ROSO FILATI C, FRANCIA A, GALIMBERTI CA, GALLI R, GAROFALO P, GIOVANARDI ROSSI P, IANI C, MAIER R, MANFREDI M, MARGIOTTA N, MASSETANI R, MAZZA S, MECARELLI O, PARMEGGIANI A, RICCI S, ROCCHI R, ROMANO G, SALTARELLI A, SANTUCCI M, SIDERI G, SPECCHIO L, TARTARA A, TIACCI C., PASCOTTO, Antonio, Bianchi, A, Avanzini, G, DALLA BERNARDINA, B, Canger, R, Tassinari, Ca, Vigevano, F, Tiezzi, A, Buzzi, G, Fani, C, DEVERMANDOIS ROSSI, C, Zolo, P, Antonelli, A, Binelli, S, Buti, D, Canevini, Mp, Carullo, A, Ciarmatori, C, Coppola, G, D'Alessandro, P, DE FEO, Mr, DI DONATO, S, Durisotti, C, ROSO FILATI, C, Francia, A, Galimberti, Ca, Galli, R, Garofalo, P, GIOVANARDI ROSSI, P, Iani, C, Maier, R, Manfredi, M, Margiotta, N, Massetani, R, Mazza, S, Mecarelli, O, Parmeggiani, A, Pascotto, Antonio, Ricci, S, Rocchi, R, Romano, G, Saltarelli, A, Santucci, M, Sideri, G, Specchio, L, Tartara, A, and Tiacci, C.

Published
1993

34. Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy

Author

Marini, C, Darra, F, Specchio, N, Mei, D, Terracciano, A, Parmeggiani, L, Ferrari, A, Sicca, F, Mastrangelo, M, Spaccini, L, Canopoli, Ml, Cesaroni, E, Zamponi, N, Caffi, L, Ricciardelli, P, Grosso, S, Pisano, T, Canevini, Mp, Granata, T, Accorsi, P, Battaglia, Domenica Immacolata, Cusmai, R, Vigevano, F, Dalla Bernardina, B, Guerrini, R., Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021), Marini, C, Darra, F, Specchio, N, Mei, D, Terracciano, A, Parmeggiani, L, Ferrari, A, Sicca, F, Mastrangelo, M, Spaccini, L, Canopoli, Ml, Cesaroni, E, Zamponi, N, Caffi, L, Ricciardelli, P, Grosso, S, Pisano, T, Canevini, Mp, Granata, T, Accorsi, P, Battaglia, Domenica Immacolata, Cusmai, R, Vigevano, F, Dalla Bernardina, B, Guerrini, R., and Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021)

Abstract

Mutations of the protocadherin19 gene (PCDH19) cause a female-related epilepsy of variable severity, with or without mental retardation and autistic features. Despite the increasing number of patients and mutations reported, the epilepsy phenotype associated with PCDH19 mutations is still unclear. We analyzed seizure semiology through ictal video-electroencephalography (EEG) recordings in a large series of patients.

Published
2012

35. Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients

Author

Ragona, F, Granata, T, Dalla Bernardina, B, Offredi, F, Darra, F, Battaglia, Domenica Immacolata, Morbi, Ma, Brazzo, D, Cappelletti, S, Chieffo, Daniela Pia Rosaria, De Giorgi, I, Fontana, E, Freri, E, Marini, C, Toraldo, A, Specchio, N, Veggiotti, P, Vigevano, F, Guerrini, R, Guzzetta, Francesco, Dravet, C., Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021), Chieffo, D, Ragona, F, Granata, T, Dalla Bernardina, B, Offredi, F, Darra, F, Battaglia, Domenica Immacolata, Morbi, Ma, Brazzo, D, Cappelletti, S, Chieffo, Daniela Pia Rosaria, De Giorgi, I, Fontana, E, Freri, E, Marini, C, Toraldo, A, Specchio, N, Veggiotti, P, Vigevano, F, Guerrini, R, Guzzetta, Francesco, Dravet, C., Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021), and Chieffo, D

Abstract

To clarify the role of epilepsy and genetic background in determining the cognitive outcome of patients with Dravet syndrome.

Published
2011

41. Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

Author

Artuso, R., primary, Mencarelli, M.A., additional, Polli, R., additional, Sartori, S., additional, Ariani, F., additional, Pollazzon, M., additional, Marozza, A., additional, Cilio, M.R., additional, Specchio, N., additional, Vigevano, F., additional, Vecchi, M., additional, Boniver, C., additional, Dalla Bernardina, B., additional, Parmeggiani, A., additional, Buoni, S., additional, Hayek, G., additional, Mari, F., additional, Renieri, A., additional, and Murgia, A., additional

Published
2010
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48. Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

Author

Nabbout, R., primary, Gennaro, E., additional, Dalla Bernardina, B., additional, Dulac, O., additional, Madia, F., additional, Bertini, E., additional, Capovilla, G., additional, Chiron, C., additional, Cristofori, G., additional, Elia, M., additional, Fontana, E., additional, Gaggero, R., additional, Granata, T., additional, Guerrini, R., additional, Loi, M., additional, La Selva, L., additional, Lispi, M. L., additional, Matricardi, A., additional, Romeo, A., additional, Tzolas, V., additional, Valseriati, D., additional, Veggiotti, P., additional, Vigevano, F., additional, Vallée, L., additional, Dagna Bricarelli, F., additional, Bianchi, A., additional, and Zara, F., additional

Published
2003
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49. Rasmussen’s encephalitis

Author

Granata, T., primary, Gobbi, G., additional, Spreafico, R., additional, Vigevano, F., additional, Capovilla, G., additional, Ragona, F., additional, Freri, E., additional, Chiapparini, L., additional, Bernasconi, P., additional, Giordano, L., additional, Bertani, G., additional, Casazza, M., additional, Dalla Bernardina, B., additional, and Fusco, L., additional

Published
2003
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