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2. Neurological Manifestations of Long COVID: A Single-Center One-Year Experience

Author

Taruffi L, Muccioli L, Mitolo M, Ferri L, Descovich C, Mazzoni S, Michelucci R, Lodi R, Liguori R, Cortelli P, Tonon C, and Bisulli F

Subjects
covid 19, neurocovid, follow-up, cognitive disorders, neuropsychology, hypo/anosmia, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Lisa Taruffi,1,* Lorenzo Muccioli,1,* Micaela Mitolo,2,3 Lorenzo Ferri,1 Carlo Descovich,4 Stefania Mazzoni,2 Roberto Michelucci,2 Raffaele Lodi,1,2 Rocco Liguori,1,2 Pietro Cortelli,1,2 Caterina Tonon,1,2 Francesca Bisulli1,2 1Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; 2IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; 3Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy; 4Clinical Governance, Research, Education and Quality Improvement Unit, AUSL Bologna, Bologna, Italy*These authors contributed equally to this workCorrespondence: Francesca Bisulli, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy, Tel +39 0514966937, Fax +39 05149669993, Email francesca.bisulli@unibo.itPurpose: We report our single-center experience on the neurological manifestations of long COVID.Patients and Methods: This is a retrospective observational study. All consecutive patients referred to the neurological long COVID outpatient clinic of our institute from January 21 2021 to December 9 2021 underwent a general neurological objective examination. Treatments and investigations (brain MRI, neuropsychological evaluation, or others) were prescribed on an individual basis as per standard clinical practice. A follow-up visit was performed when appropriate. Descriptive statistics were presented as absolute and relative frequencies for categorical variables and as means, median, and ranges for continuous variables.Results: One hundred and three patients were visited (mean age 50.5 ± 36 years, 62 females). The average time from acute COVID-19 infection to the first visit to our outpatient clinic was 243 days. Most patients presented with a mild form of acute COVID-19, with only 24 cases requiring hospitalization. The neurological symptoms mostly (n=70/103, 68%) started during the acute phase (before a negative swab for SARS-CoV-2). The most frequent acute manifestations reported, which lately became persistent, were fatigue (n=58/103, 56%), olfactory/taste dysfunction (n=58/103, 56%), headache (n=47/103, 46%), cognitive disorders (n=46/103, 45%), sleep disorders (n=30/103, 29%), sensitivity alterations (n=29/103, 28%), and dizziness (n=7/103, 7%). Tremor was also reported (n=8/103, 7%). Neuropsychological evaluation was performed in 30 patients and revealed alterations in executive functions (n=6/30, 20%), memory (n=11/30, 37%), with pathological depressive (n=9/30, 30%) and anxiety (n=8/30, 27%) scores. Brain MRIs have been performed in 41 cases, revealing nonspecific abnormal findings only in 4 cases. Thirty-six patients underwent a follow-up, where a general improvement was observed but rarely (n=2/36) a complete recovery.Conclusion: The majority of patients presenting persistent neurological symptoms (most frequently fatigue, cognitive disorders, and olfactory dysfunctions) developed a previous mild form of COVID-19. Further studies are required to develop therapeutic strategies.Keywords: COVID 19, neuroCOVID, follow-up, cognitive disorders, neuropsychology, hypo/anosmia

Published
2023

4. The Prognostic Roles of Gender and O6-Methylguanine-DNA Methyltransferase Methylation Status in Glioblastoma Patients: The Female Power

Author

Baruzzi, A., Albani, F., Calbucci, F., D'Alessandro, R., Michelucci, R., Brandes, A., Eusebi, V., Ceruti, S., Fainardi, E., Tamarozzi, R., Emiliani, E., Cavallo, M., Franceschi, E., Tosoni, A., Fiorica, F., Valentini, A., Depenni, R., Mucciarini, C., Crisi, G., Sasso, E., Biasini, C., Cavanna, L., Guidetti, D., Marcello, N., Pisanello, A., Cremonini, A.M., Guiducci, G., de Pasqua, S., Testoni, S., Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Crisci, M., Dall'Occa, P., de Biase, D., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Marucci, G., Morandi, L., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Pession, A., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., Dall'Agata, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., Strumia, S., Faedi, M., Casmiro, M., Gamboni, A., Rasi, F., Cruciani, G., Cenni, P., Dazzi, C., Guidi, A.R., Zumaglini, F., Amadori, A., Pasini, G., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., Viti, B., Sintini, M., Ariatti, A., Bertolini, F., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, G., Zunarelli, E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C., Iaccarino, C., Ragazzi, M., Rizzi, R., Zuccoli, G., Api, P., Cartei, F., Colella, M., Fallica, E., Farneti, M., Frassoldati, A., Granieri, E., Latini, F., Monetti, C., Saletti, A., Schivalocchi, R., Sarubbo, S., Seraceni, S., Tola, M.R., Urbini, B., Zini, G., Giorgi, C., Montanari, E., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Servadei, F., Silini, E.M., Torelli, P., Immovilli, P., Morelli, N., Vanzo, C., Nobile, C., Franceschi, Enrico, Tosoni, Alicia, Minichillo, Santino, Depenni, Roberta, Paccapelo, Alexandro, Bartolini, Stefania, Michiara, Maria, Pavesi, Giacomo, Urbini, Benedetta, Crisi, Girolamo, Cavallo, Michele A., Tosatto, Luigino, Dazzi, Claudio, Biasini, Claudia, Pasini, Giuseppe, Balestrini, Damiano, Zanelli, Francesca, Ramponi, Vania, Fioravanti, Antonio, Giombelli, Ermanno, De Biase, Dario, Baruzzi, Agostino, and Brandes, Alba A.

Published
2018
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5. Sleep-related hypermotor epilepsy: prevalence, impact and management strategies

Author

Menghi V, Bisulli F, Tinuper P, and Nobili L

Subjects
epilepsy, parasomnias, sleep-related hypermotor epilepsy, nocturnal frontal lobe epilepsy, epidemiology., Psychiatry, RC435-571, Neurophysiology and neuropsychology, QP351-495
Abstract

Veronica Menghi,1 Francesca Bisulli,2 Paolo Tinuper,2 Lino Nobili3,4 1Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; 2IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; 3“Claudio Munari” Center for Epilepsy Surgery, Niguarda Hospital, Milan, Italy; 4Department of Neuroscience (DINOGMI), IRCCS, Giannina Gaslini Institute, University of Genoa, Genoa, Italy Abstract: Sleep-related hypermotor epilepsy (SHE), previously called nocturnal frontal lobe epilepsy (NFLE), is a focal epilepsy characterized by asymmetric tonic/dystonic posturing and/or complex hyperkinetic seizures occurring mostly during sleep. SHE fulfills the definition of rare disease with an estimated minimum prevalence of 1.8/100,000 individuals, and it represents about 10% of drug-resistant surgical cases. Although SHE and autosomal-dominant SHE (ADSHE) have been considered benign epileptic conditions for a long time, emerging data have shed light on the severity of this disorder and some peculiar features can impact negatively on the quality of life of SHE patients. In fact, seizure frequency can be very high, resulting in nocturnal sleep fragmentation with possible diurnal consequences such as excessive sleepiness and fatigue. Moreover, recent studies, adopting a systematic neuropsychological assessment, have shown deficits in memory, executive functions and visuo-spatial abilities in almost half of SHE patients. Intellectual disabilities and psychiatric disorders have also been reported in some genetic forms. SHE may also exert a negative effect on health-related quality of life, especially in domains pertaining to a patient’s role in the family, social context and patient’s illness experience. Despite a good response to pharmacological treatment, especially with carbamazepine, 30% of SHE patients suffer from drug-resistant seizures. Finally, recent studies suggest a poor prognosis in a high percentage of SHE patients with a 20.4% cumulative probability of achieving terminal remission at 10 years from onset. For selected drug-resistant SHE patients, epilepsy surgery is the only treatment offering high probability of recovery, both for seizures and for epilepsy-related sleep alterations. Keywords: epilepsy, parasomnias, sleep-related hypermotor epilepsy, nocturnal frontal lobe epilepsy, epidemiology

Published
2018

7. Incidence of neuroepithelial primary brain tumors among adult population of Emilia-Romagna Region, Italy

Author

Baldin, Elisa, Testoni, Stefania, de Pasqua, Silvia, Ferro, Salvatore, Albani, Fiorenzo, Baruzzi, Agostino, D’Alessandro, Roberto, Baruzzi, A., Albani, F., Calbucci, F., D’Alessandro, R., Michelucci, R., Brandes, A., Eusebi, V., Ceruti, S., Fainardi, E., Tamarozzi, R., Emiliani, E., Cavallo, M., Franceschi, E., Tosoni, A., Cavallo, M., Fiorica, F., Valentini, A., Depenni, R., Mucciarini, C., Crisi, G., Sasso, E., Biasini, C., Cavanna, L., Guidetti, D., Marcello, N., Pisanello, A., Cremonini, A. M., Guiducci, G., de Pasqua, S., Testoni, S., Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Crisci, M., Dall’Occa, P., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., Dall’Agata, M., Faedi, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., Strumia, S., Casmiro, M., Gamboni, A., Rasi, F., Cruciani, G., Cenni, P., Dazzi, C., Guidi, A. R., Zumaglini, F., Amadori, A., Pasini, G., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., Viti, B., Sintini, M., Ariatti, A., Bertolini, F., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, G., Zunarelli, E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C., Iaccarino, C., Ragazzi, M., Rizzi, R., Zuccoli, G., Api, P., Cartei, F., Fallica, E., Granieri, E., Latini, F., Lelli, G., Monetti, C., Saletti, A., Schivalocchi, R., Seraceni, S., Tola, M. R., Urbini, B., Giorgi, C., Montanari, E., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Servadei, F., Silini, E. M., Torelli, P., Immovilli, P., Morelli, N., Vanzo, C., Nobile, C., and On behalf of PERNO study group

Published
2017
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8. Cannabidiol in Pharmacoresistant Epilepsy: Clinical Pharmacokinetic Data From an Expanded Access Program

Author

Contin M., Mohamed S., Santucci M., Lodi M. A. M., Russo E., Mecarelli O., Bisulli F., Boni A., Cantalupo G., Cesaroni E., Coppola A., Di Bonaventura C., Fetta A., La Neve A., Matricardi S., Michelucci R., Papa A., Pilolli N., Pulitano P., Ragona F., Russo P., Striano P., Volpi L., Zucca C., Contin, M., Mohamed, S., Santucci, M., Lodi, M. A. M., Russo, E., Mecarelli, O., Bisulli, F., Boni, A., Cantalupo, G., Cesaroni, E., Coppola, A., Di Bonaventura, C., Fetta, A., La Neve, A., Matricardi, S., Michelucci, R., Papa, A., Pilolli, N., Pulitano, P., Ragona, F., Russo, P., Striano, P., Volpi, L., and Zucca, C.

Subjects
0301 basic medicine, medicine.medical_specialty, Evening, Gastroenterology, 03 medical and health sciences, cannabidiol, 0302 clinical medicine, Dravet syndrome, Pharmacokinetics, Internal medicine, medicine, Pharmacology (medical), antiseizure medication, Pharmacology, business.industry, epilepsy, Lennox–Gastaut syndrome, pharmacokinetics, lcsh:RM1-950, Venous blood, Brief Research Report, medicine.disease, digestive system diseases, 030104 developmental biology, lcsh:Therapeutics. Pharmacology, Concomitant, Expanded access, business, Cannabidiol, 030217 neurology & neurosurgery, medicine.drug
Abstract

Background and Aim: Data on the clinical pharmacokinetics of cannabidiol (CBD) are scanty. We explored the effect of demographic and clinical variables on plasma concentrations of purified CBD in patients with Dravet (DS) and Lennox–Gastaut syndrome (LGS).Methods: The study design was an open, prospective, multicenter expanded access program (EAP). Venous blood samples were drawn from patients between 8 and 9 am, before the CBD morning dose, 12 h apart from the last evening dose, and then 2.5 h after their usual morning dose.Results: We collected 127 plasma samples (67-morning pre-dosing and 60 post-dosing) from 43 patients (24 females, 19 males), 27 with LGS and 16 with DS. Mean ± standard deviation age was 26 ± 15 years. Duration of CBD treatment averaged 4.2 ± 2.9 months at 13.2 ± 4.6 mg/kg/day. CBD median trough plasma concentration was 91 ng/ml; it doubled to 190 ng/ml 2.5 h post-dosing (p < 0.001). Cannabidiol trough plasma concentrations were linearly related to daily doses (r = 0.564, p < 0.001). Median trough CBD plasma concentration-to-weight-adjusted dose ratio (C/D) was 32% higher (p < 0.02) in plasma samples from subjects aged 18 and over than in those under 18. Sex and concomitant antiseizure medications (ASMs) were not associated with significant variations in CBD C/D, but caution is required due to the potential influence of confounders.Conclusion: These are the first data on CBD pharmacokinetics in children and adults with LGS or DS in a real-world setting. The most relevant finding was the higher CBD C/D in adults. In practice, reduced weight-normalized doses might be required with aging to achieve the same CBD plasma levels.

Published
2021

9. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Author

Florian R. T., Kraft F., Leitao E., Kaya S., Klebe S., Magnin E., van Rootselaar A. -F., Buratti J., Kuhnel T., Schroder C., Giesselmann S., Tschernoster N., Altmueller J., Lamiral A., Keren B., Nava C., Bouteiller D., Forlani S., Jornea L., Kubica R., Ye T., Plassard D., Jost B., Meyer V., Deleuze J. -F., Delpu Y., Avarello M. D. M., Vijfhuizen L. S., Rudolf G., Hirsch E., Kroes T., Reif P. S., Rosenow F., Ganos C., Vidailhet M., Thivard L., Mathieu A., Bourgeron T., Kurth I., Rafehi H., Steenpass L., Horsthemke B., Berkovic S. F., Bisulli F., Brancati F., Canafoglia L., Casari G., Guerrini R., Ishiura H., Licchetta L., Mei D., Pippucci T., Sadleir L., Scheffer I. E., Striano P., Tinuper P., Tsuji S., Zara F., LeGuern E., Klein K. M., Labauge P., Bennett M. F., Bahlo M., Gecz J., Corbett M. A., Tijssen M. A. J., van den Maagdenberg A. M. J. M., Depienne C., Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J. -F., Delpu, Y., Avarello, M. D. M., Vijfhuizen, L. S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P. S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S. F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I. E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., Leguern, E., Klein, K. M., Labauge, P., Bennett, M. F., Bahlo, M., Gecz, J., Corbett, M. A., Tijssen, M. A. J., van den Maagdenberg, A. M. J. M., Depienne, C., Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), Universität Duisburg-Essen = University of Duisburg-Essen [Essen], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA), Amsterdam Neuroscience [Pays-Bas], Vrije Universiteit Amsterdam [Amsterdam] (VU)-University of Amsterdam [Amsterdam] (UvA)-VU University Medical Center [Amsterdam], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Molecular Medicine Cologne [Cologne] (CMMC), University Hospital of Cologne [Cologne], Cologne Center for Genomics [Cologne] (CCG), University of Cologne, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), genomic vision, Leiden University Medical Center (LUMC), Universiteit Leiden, Centre de référence des épilepsies rares [CHRU Strasbourg] (CRéER), Centre Hospitalier Régional Universitaire de Strasbourg (CHRU de Strasbourg), Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, School of Biological Sciences [Adelaïde], University of Adelaide, Goethe-University Frankfurt am Main, Philipps Universität Marburg = Philipps University of Marburg, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), The Walter and Eliza Hall Institute of Medical Research (WEHI), University of Melbourne, Epilepsy Research Centre, University of Calgary, Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), South Australian Health and Medical Research Institute [ Adelaide] (SAHMRI), University Medical Center Groningen [Groningen] (UMCG), This study has been financially supported by three different grants from the Fondation Maladies rares to C.D. (2009, 2010, 2016), Assistance Publique des Hôpitaux de Paris (APHP), INSERM, the 'Investissements d’Avenir' programme ANR-10-IAIHU-06 (IHU-A-ICM), University Duisburg-Essen and University Hospital Essen. M.B. was supported by an Australian National Health and Medical Research Council (NHMRC) Program Grant (GNT1054618) and an NHMRC Senior Research Fellowship (GNT1102971). This work was also supported by the Victorian Government’s Operational Infrastructure Support Program and the NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS). Laura Canafoglia: Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE., We thank the families for their participation in this study, Agnès Rastetter (ICM, Paris, France) for RNA extraction, and Emmanuelle Apartis (Hôpital Saint-Antoine, Paris, France) for electrophysiological assessment of Family 1. DNA extraction and cell culture of lymphoblasts have been performed at the DNA and cell bank of ICM (Paris, France). RNA-seq has been performed on the GenomEast platform of IGBMC, Illkirch, France. WGS has been performed by the Centre National de Recherche en Génomique Humaine (CNRGH) Institut de Biologie François Jacob, Evry, France. We thank Jean-Louis Mandel and Nicolas Charlet-Berguerand (IGBMC, Strasbourg, France), Cécile Cazeneuve (Hôpital Pitié-Salpêtrière, Paris, France), Charles Marcaillou (Integragen, Evry, France) and Isabel Silveira (Porto, Portugal) for valuable discussions., FAME consortium : Berkovic SF, Bisulli F, Brancati F, Canafoglia L, Casari G, Guerrini R, Ishiura H, Licchetta L, Mei D, Pippucci T, Sadleir L, Scheffer IE, Striano P, Tinuper P, Tsuji S, Zara F., Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre National de Recherche en Génomique Humaine (CNRGH), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), RWTH Aachen University, Universität Duisburg-Essen [Essen], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Philipps University of Marburg, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris]-Université de Paris (UP), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D.M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A.J. Tijssen, Arn M.J.M. van den Maagdenberg, Christel Depienne, Francesca Bisulli, Laura Licchetta, Paolo Tinuper, MATHIEU, Alexandre, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), and Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)

Subjects
Male, MESH: Introns, [SDV]Life Sciences [q-bio], Medizin, MESH: DNA Repeat Expansion, Epilepsies, Myoclonic, [SDV.GEN] Life Sciences [q-bio]/Genetics, MARCH6, expansion, MESH: Ubiquitin-Protein Ligases/genetics, MESH: Aged, MESH: Middle Aged, DNA Repeat Expansion, Neurodegenerative diseases, MESH: Epilepsies, Myoclonic, Chromosome Mapping, Middle Aged, MESH: Epilepsies, Myoclonic/genetics, Pedigree, MESH: Young Adult, Female, ddc:500, MESH: Membrane Proteins, Technology Platforms, Genomic instability, Adult, Adolescent, MESH: Pedigree, Ubiquitin-Protein Ligases, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Familial Adult Myoclonic Epilepsy type 3, Article, Young Adult, Humans, Aged, MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Epilepsy, Membrane Proteins, MESH: Adult, MESH: Membrane Proteins/genetics, MESH: Ubiquitin-Protein Ligases, MESH: Male, Introns, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Chromosome Mapping, MESH: Female, Neurological disorders
Abstract

Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and repeat-primed PCR, we identify another site of this repeat expansion, in MARCH6 (FAME3) in four European families. Analysis of single DNA molecules with nanopore sequencing and molecular combing show that expansions range from 3.3 to 14 kb on average. However, we observe considerable variability in expansion length and structure, supporting the existence of multiple expansion configurations in blood cells and fibroblasts of the same individual. Moreover, the largest expansions are associated with micro-rearrangements occurring near the expansion in 20% of cells. This study provides further evidence that FAME is caused by intronic TTTTA/TTTCA expansions in distinct genes and reveals that expansions exhibit an unexpectedly high somatic instability that can ultimately result in genomic rearrangements., Familial cortical myoclonic tremor with epilepsy (FAME) is a slowly progressing cortical tremor mapping to various genomic loci, including intronic expansions in SAMD12 for FAME1. Here, Florian et al. describe mixed intronic TTTTA/TTTCA expansions of various lengths in the first intron of MARCH6 as a cause of FAME3.

Published
2019
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10. Correction to: Which elderly newly diagnosed glioblastoma patients can benefit from radiotherapy and temozolomide? A PERNO prospective study

Author

Franceschi, Enrico, Depenni, Roberta, Paccapelo, Alexandro, Ermani, Mario, Faedi, Marina, Sturiale, Carmelo, Michiara, Maria, Servadei, Franco, Pavesi, Giacomo, Urbini, Benedetta, Pisanello, Anna, Crisi, Girolamo, Cavallo, Michele A., Dazzi, Claudio, Biasini, Claudia, Bertolini, Federica, Mucciarini, Claudia, Pasini, Giuseppe, Baruzzi, Agostino, Brandes, Alba A., Baruzzi, A., Albani, F., Calbucci, F., D’Alessandro, R., Michelucci, R., Brandes, A., Eusebi, V., Ceruti, S., Fainardi, E., Tamarozzi, R., Emiliani, E., Cavallo, M., Franceschi, E., Tosoni, A., Cavallo, M., Fiorica, F., Valentini, A., Depenni, R., Mucciarini, C., Crisi, G., Sasso, E., Biasini, C., Cavanna, L., Guidetti, D., Marcello, N., Pisanello, A., Cremonini, A. M., Guiducci, G., de Pasqua, S., Testoni, S., Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Crisci, M., Dall’Occa, P., de Biase, D., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Marucci, G., Morandi, L., Mostacci, B., Palandri, G., Pasini, E., PastoreTrossello, M., Pession, A., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., Dall’Agata, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., Strumia, S., Faedi, M., Casmiro, M., Gamboni, A., Rasi, F., Cruciani, G., Cenni, P., Dazzi, C., Guidi, A. R., Zumaglini, F., Amadori, A., Pasini, G., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., Viti, B., Sintini, M., Ariatti, A., Bertolini, F., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, G., Zunarelli, E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C., Iaccarino, C., Ragazzi, M., Rizzi, R., Zuccoli, G., Api, P., Cartei, F., Colella, M., Fallica, E., Farneti, M., Frassoldati, A., Granieri, E., Latini, F., Monetti, C., Saletti, A., Schivalocchi, R., Sarubbo, S., Seraceni, S., Tola, M. R., Urbini, B., Zini, G., Giorgi, C., Montanari, E., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Servadei, F., Silini, E. M., Torelli, P., Immovilli, P., Morelli, N., Vanzo, C., Nobile, C., and The PERNO Study Group

Published
2017
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12. Declining malformation rates with changed antiepileptic drug prescribing: An observational study

Author

Tomson T., Battino D., Bonizzoni E., Craig J., Lindhout D., Perucca E., Sabers A., Thomas S. V., Vajda F., Bisulli F., Tinuper P., for the EURAP Study Group, Tomson T., Battino D., Bonizzoni E., Craig J., Lindhout D., Perucca E., Sabers A., Thomas S.V., Vajda F., Bisulli F., Tinuper P., and for the EURAP Study Group

Subjects
Pediatrics, medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, Medicina Clínica, EURAP, Lamotrigine, Epilepsia, 03 medical and health sciences, Epilepsy, Neurologia, 0302 clinical medicine, AED, purl.org/becyt/ford/3.2 [https], medicine, 030212 general & internal medicine, Medical prescription, Prospective cohort study, Valproic Acid, Pregnancy, business.industry, Neurología Clínica, Carbamazepine, medicine.disease, epilepsy, purl.org/becyt/ford/3 [https], sense organs, pregnancy, Neurology (clinical), Levetiracetam, business, 030217 neurology & neurosurgery, medicine.drug
Abstract

Objective Changes in prescribing patterns of antiepileptic drugs (AEDs) in pregnant women with epilepsy would be expected to affect the risk of major congenital malformations (MCMs). To test this hypothesis, we analyzed data from an international pregnancy registry (EURAP). Methods EURAP is an observational prospective cohort study designed to determine the risk of MCMs after prenatal exposure to AEDs. The Cochrane-Armitage linear trend analysis was used to assess changes in AED treatment, prevalence of MCMs, and occurrence of generalized tonic-clonic seizures (GTCs) over 3 time periods: 2000–2005 (n = 4,760), 2006–2009 (n = 3,599), and 2010–2013 (n = 2,949). Results There were pronounced changes in the use of specific AEDs over time, with a decrease in the use of valproic acid and carbamazepine and an increase in the use of lamotrigine and levetiracetam. The prevalence of MCMs with monotherapy exposure decreased from 6.0% in 2000–2005 to 4.4% in 2010–2013. The change over time in MCM frequency after monotherapy exposure showed a significant linear trend in the crude analysis (p = 0.0087), which was no longer present after adjustment for changes in AED treatment (p = 0.9923). There was no indication of an increase over time in occurrence of GTCs during pregnancy. Conclusions There have been major changes in AED prescription patterns over the years covered by the study. In parallel, we observed a significant 27% decrease in the prevalence of MCMs. The results of adjusting the trend analysis for MCMs for changes in AED treatment suggest that changes in prescription patterns played a major role in the reduction of teratogenic events. Fil: Tomson, Torbjörn. Karolinska Huddinge Hospital. Karolinska Institutet; Suecia Fil: Battino, Dina. Karolinska Huddinge Hospital. Karolinska Institutet; Suecia Fil: Thomas, Sanjeev V.. Karolinska Huddinge Hospital. Karolinska Institutet; Suecia Fil: Vajda, Frank. Karolinska Huddinge Hospital. Karolinska Institutet; Suecia Fil: Kochen, Sara Silvia. Provincia de Buenos Aires. Ministerio de Salud. Hospital Alta Complejidad en Red El Cruce Dr. Néstor Carlos Kirchner Samic; Argentina. Universidad Nacional Arturo Jauretche. Unidad Ejecutora de Estudios en Neurociencias y Sistemas Complejos. Provincia de Buenos Aires. Ministerio de Salud. Hospital Alta Complejidad en Red El Cruce Dr. Néstor Carlos Kirchner Samic. Unidad Ejecutora de Estudios en Neurociencias y Sistemas Complejos. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Unidad Ejecutora de Estudios en Neurociencias y Sistemas Complejos; Argentina Fil: Craig, John. Karolinska Huddinge Hospital. Karolinska Institutet; Suecia Fil: Binozzoni, Erminio. Karolinska Huddinge Hospital. Karolinska Institutet; Suecia Fil: Lindhout, Dick. Karolinska Huddinge Hospital. Karolinska Institutet; Suecia Fil: Perucca, Emilio. Karolinska Huddinge Hospital. Karolinska Institutet; Suecia Fil: Sabers, Anne. Karolinska Huddinge Hospital. Karolinska Institutet; Suecia

Published
2019

13. Polygenic burden in focal and generalized epilepsies

Author

Leu C., Stevelink R., Smith A. W., Goleva S. B., Kanai M., Ferguson L., Campbell C., Kamatani Y., Okada Y., Sisodiya S. M., Cavalleri G. L., Koeleman B. P. C., Lerche H., Jehi L., Davis L. K., Najm I. M., Palotie A., Daly M. J., Busch R. M., Lal D., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Churchhouse C., Gupta N., Neale B. M., Berkovic S. F., Goldstein D. B., Lowenstein D. H., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E. L., Helbig I., Kwan P., Marson A. G., Petrovski S., Kamalakaran S., Stewart R., Weckhuysen S., Depondt C., Dlugos D. J., Scheffer I. E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B. M., Bellows S. T., Bennett C. A., Johns E. M. C., Macdonald A., Shilling H., Burgess R., Weckhuysen D., Bahlo M., O'Brien T. J., Todaro M., Stamberger H., Andrade D. M., Sadoway T. R., Mo K., Krestel H., Gallati S., Papacostas S. S., Kousiappa I., Tanteles G. A., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K. M., Rosenow F., Reif P. S., Knake S., Kunz W. S., Zsurka G., Elger C. E., Bauer J., Rademacher M., Pendziwiat M., Muhle H., Rademacher A., Van Baalen A., Von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J. R., Krey I., Weber Y. G., Wolking S., Becker F., Hengsbach C., Rau S., Maisch A. F., Steinhoff B. J., Schulze-Bonhage A., Schubert-Bast S., Schreiber H., Borggrafe I., Schankin C. J., Mayer T., Korinthenberg R., Brockmann K., Dennig D., Madeleyn R., Kalviainen R., Auvinen P., Saarela A., Linnankivi T., Lehesjoki A. -E., Rees M. I., Chung S. -K., Pickrell W. O., Powell R., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M. R., Auce P., Sills G. J., Baum L. W., Sham P. C., Cherny S. S., Lui C. H. T., Barisic N., Delanty N., Doherty C. P., Shukralla A., McCormack M., El-Naggar H., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Zara F., Iacomino M., Madia F., Vari M. S., Mancardi M. M., Salpietro V., Bisulli F., Tinuper P., Licchetta L., Pippucci T., Stipa C., Muccioli L., Minardi R., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Marini C., Suzuki T., Inoue Y., Yamakawa K., Birute T., Ruta M., Algirdas U., Ruta P., Jurgita G., Ruta S., Sadleir L. G., King C., Mountier E., Caglayan S. H., Arslan M., Yapici Z., Yis U., Topaloglu P., Kara B., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Sheidley B. R., Shain C., Poduri A., Buono R. J., Ferraro T. N., Sperling M. R., Lo W., Privitera M., French J. A., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Khankhanian P., Helbig K. L., Ellis C. A., Spalletta G., Piras F., Gili T., Ciullo V., Leu C., Stevelink R., Smith A.W., Goleva S.B., Kanai M., Ferguson L., Campbell C., Kamatani Y., Okada Y., Sisodiya S.M., Cavalleri G.L., Koeleman B.P.C., Lerche H., Jehi L., Davis L.K., Najm I.M., Palotie A., Daly M.J., Busch R.M., Lal D., Feng Y.-C.A., Howrigan D.P., Abbott L.E., Tashman K., Cerrato F., Churchhouse C., Gupta N., Neale B.M., Berkovic S.F., Goldstein D.B., Lowenstein D.H., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E.L., Helbig I., Kwan P., Marson A.G., Petrovski S., Kamalakaran S., Stewart R., Weckhuysen S., Depondt C., Dlugos D.J., Scheffer I.E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B.M., Bellows S.T., Bennett C.A., Johns E.M.C., Macdonald A., Shilling H., Burgess R., Weckhuysen D., Bahlo M., O'Brien T.J., Todaro M., Stamberger H., Andrade D.M., Sadoway T.R., Mo K., Krestel H., Gallati S., Papacostas S.S., Kousiappa I., Tanteles G.A., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K.M., Rosenow F., Reif P.S., Knake S., Kunz W.S., Zsurka G., Elger C.E., Bauer J., Rademacher M., Pendziwiat M., Muhle H., Rademacher A., Van Baalen A., Von Spiczak S., Stephani U., Afawi Z., Korczyn A.D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J.R., Krey I., Weber Y.G., Wolking S., Becker F., Hengsbach C., Rau S., Maisch A.F., Steinhoff B.J., Schulze-Bonhage A., Schubert-Bast S., Schreiber H., Borggrafe I., Schankin C.J., Mayer T., Korinthenberg R., Brockmann K., Dennig D., Madeleyn R., Kalviainen R., Auvinen P., Saarela A., Linnankivi T., Lehesjoki A.-E., Rees M.I., Chung S.-K., Pickrell W.O., Powell R., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M.R., Auce P., Sills G.J., Baum L.W., Sham P.C., Cherny S.S., Lui C.H.T., Barisic N., Delanty N., Doherty C.P., Shukralla A., McCormack M., El-Naggar H., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Zara F., Iacomino M., Madia F., Vari M.S., Mancardi M.M., Salpietro V., Bisulli F., Tinuper P., Licchetta L., Pippucci T., Stipa C., Muccioli L., Minardi R., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Marini C., Suzuki T., Inoue Y., Yamakawa K., Birute T., Ruta M., Algirdas U., Ruta P., Jurgita G., Ruta S., Sadleir L.G., King C., Mountier E., Caglayan S.H., Arslan M., Yapici Z., Yis U., Topaloglu P., Kara B., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Sheidley B.R., Shain C., Poduri A., Buono R.J., Ferraro T.N., Sperling M.R., Lo W., Privitera M., French J.A., Schachter S., Kuzniecky R.I., Devinsky O., Hegde M., Khankhanian P., Helbig K.L., Ellis C.A., Spalletta G., Piras F., Gili T., Ciullo V., Commission of the European Communities, Medical Research Council (MRC), Tumienė, Birutė, Mameniškienė, Rūta, Utkus, Algirdas, Praninskienė, Rūta, Grikinienė, Jurgita, Samaitienė-Aleknienė, Rūta, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, University of Helsinki, Helsinki Institute of Life Science HiLIFE, and Department of Medical and Clinical Genetics

Subjects
0301 basic medicine, Male, Multifactorial Inheritance, Epi25 Consortium, Databases, Factual, FEATURES, Genome-wide association study, Epilepsies, 3124 Neurology and psychiatry, Cohort Studies, Epilepsy, 0302 clinical medicine, Cost of Illness, 1ST SEIZURE, HISTORY, genetics, POPULATION, 11 Medical and Health Sciences, education.field_of_study, medicine.diagnostic_test, SCORES, Single Nucleotide, Biobank, 3. Good health, 17 Psychology and Cognitive Sciences, Genetic generalized epilepsy, Epilepsy, Generalized, Female, Partial, Cohort study, Human, medicine.medical_specialty, Population, European Continental Ancestry Group, Clinical Neurology, BIOBANK, Polymorphism, Single Nucleotide, epilepsy, genetic generalized epilepsy, common variant risk, Databases, 03 medical and health sciences, Genetic, Internal medicine, medicine, Journal Article, Genetics, Humans, Genetic Predisposition to Disease, Polymorphism, GENOME-WIDE ASSOCIATION, Generalized epilepsy, education, SEIZURE RECURRENCE, Factual, METAANALYSIS, Genetic testing, Neurology & Neurosurgery, RISK PREDICTION, Generalized, business.industry, 3112 Neurosciences, Common variant risk, Genetic Variation, Original Articles, medicine.disease, Comorbidity, Cost of Illne, Epilepsies, Partial, Genome-Wide Association Study, 030104 developmental biology, Neurology (clinical), Cohort Studie, business, 030217 neurology & neurosurgery
Abstract

See Hansen and Møller (doi:10.1093/brain/awz318) for a scientific commentary on this article. Using polygenic risk scores from a genome-wide association study in generalized and focal epilepsy, Leu et al. reveal a significantly higher genetic burden for epilepsy in multiple cohorts of people with epilepsy compared to population controls. Quantification of common variant burden may be valuable for epilepsy prognosis and treatment., Rare genetic variants can cause epilepsy, and genetic testing has been widely adopted for severe, paediatric-onset epilepsies. The phenotypic consequences of common genetic risk burden for epilepsies and their potential future clinical applications have not yet been determined. Using polygenic risk scores (PRS) from a European-ancestry genome-wide association study in generalized and focal epilepsy, we quantified common genetic burden in patients with generalized epilepsy (GE-PRS) or focal epilepsy (FE-PRS) from two independent non-Finnish European cohorts (Epi25 Consortium, n = 5705; Cleveland Clinic Epilepsy Center, n = 620; both compared to 20 435 controls). One Finnish-ancestry population isolate (Finnish-ancestry Epi25, n = 449; compared to 1559 controls), two European-ancestry biobanks (UK Biobank, n = 383 656; Vanderbilt biorepository, n = 49 494), and one Japanese-ancestry biobank (BioBank Japan, n = 168 680) were used for additional replications. Across 8386 patients with epilepsy and 622 212 population controls, we found and replicated significantly higher GE-PRS in patients with generalized epilepsy of European-ancestry compared to patients with focal epilepsy (Epi25: P = 1.64×10−15; Cleveland: P = 2.85×10−4; Finnish-ancestry Epi25: P = 1.80×10−4) or population controls (Epi25: P = 2.35×10−70; Cleveland: P = 1.43×10−7; Finnish-ancestry Epi25: P = 3.11×10−4; UK Biobank and Vanderbilt biorepository meta-analysis: P = 7.99×10−4). FE-PRS were significantly higher in patients with focal epilepsy compared to controls in the non-Finnish, non-biobank cohorts (Epi25: P = 5.74×10−19; Cleveland: P = 1.69×10−6). European ancestry-derived PRS did not predict generalized epilepsy or focal epilepsy in Japanese-ancestry individuals. Finally, we observed a significant 4.6-fold and a 4.5-fold enrichment of patients with generalized epilepsy compared to controls in the top 0.5% highest GE-PRS of the two non-Finnish European cohorts (Epi25: P = 2.60×10−15; Cleveland: P = 1.39×10−2). We conclude that common variant risk associated with epilepsy is significantly enriched in multiple cohorts of patients with epilepsy compared to controls—in particular for generalized epilepsy. As sample sizes and PRS accuracy continue to increase with further common variant discovery, PRS could complement established clinical biomarkers and augment genetic testing for patient classification, comorbidity research, and potentially targeted treatment.

Published
2019
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14. Erratum to: Incidence of neuroepithelial primary brain tumors among adult population of Emilia-Romagna Region, Italy

Author

Baldin, Elisa, Testoni, Stefania, de Pasqua, Silvia, Ferro, Salvatore, Albani, Fiorenzo, Baruzzi, Agostino, D’Alessandro, Roberto, Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Cerasoli, S., Crisci, M., Dall’Occa, P., de Biase, D., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Marucci, G., Morandi, L., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Pession, A., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., Visani, M., Dall’Agata, M., Faedi, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., Strumia, S., Casmiro, M., Gamboni, A., Rasi, F., Cruciani, G., Cenni, P., Dazzi, C., Guidi, A. R., Zumaglini, F., Amadori, A., Pasini, G., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., Viti, B., Sintini, M., Ariatti, A., Bertolini, F., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, G., Zunarelli, E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C., Iaccarino, C., Ragazzi, M., Rizzi, R., Zuccoli, G., Api, P., Cartei, F., Fallica, E., Granieri, E., Latini, F., Lelli, G., Monetti, C., Saletti, A., Schivalocchi, R., Seraceni, S., Tola, M. R., Urbini, B., Giorgi, C., Montanari, E., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Servadei, F., Silini, E. M., Torelli, P., Immovilli, P., Morelli, N., Vanzo, C., Nobile, C., and On behalf of PERNO study group

Published
2017
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18. 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

26. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Author

Florian, R.T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., Rootselaar, A.F. van, Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J.F., Delpu, Y., Avarello, M.D.M., Vijfhuizen, L.S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P.S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S.F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I.E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., LeGuern, E., Klein, K.M., Labauge, P., Bennett, M.F., Bahlo, M., Gecz, J., Corbett, M.A., Tijssen, M.A.J., Maagdenberg, A.M.J.M. van den, Depienne, C., and FAME Consortium

Abstract

Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and repeat-primed PCR, we identify another site of this repeat expansion, in MARCH6 (FAME3) in four European families. Analysis of single DNA molecules with nanopore sequencing and molecular combing show that expansions range from 3.3 to 14 kb on average. However, we observe considerable variability in expansion length and structure, supporting the existence of multiple expansion configurations in blood cells and fibroblasts of the same individual. Moreover, the largest expansions are associated with micro-rearrangements occurring near the expansion in 20% of cells. This study provides further evidence that FAME is caused by intronic TTTTA/TTTCA expansions in distinct genes and reveals that expansions exhibit an unexpectedly high somatic instability that can ultimately result in genomic rearrangements.

Published
2019

27. The landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2019)

Author

Baldassari, S., Picard, F., Verbeek, N.E., Kempen, M. van, Brilstra, E.H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., Saint Martin, A. de, Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmuller, G., Sisodiya, S., Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E.H., Jansen, F.E., Braun, K., Jong, D. de, Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M.L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A.S., Jennesson, M., Sattar, S., Marchal, C., Nordli, D.R., Lindstrom, K., Striano, P., Lomax, L.B., Kiss, C., Bartolomei, F., Lepine, A.F., Schoonjans, A.S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., Bellescize, J. de, Catenoix, H., Dorn, T., Zenker, M., Muller-Schluter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C.J., Weckhuysen, S., Poduri, A., Lemke, J.R., Moller, R.S., and Baulac, S.

Published
2019

33. Correction to: Which elderly newly diagnosed glioblastoma patients can benefit from radiotherapy and temozolomide? A PERNO prospective study (Journal of Neuro-Oncology, (2016), 128, 1, (157-162), 10.1007/s11060-016-2093-1)

Author

Franceschi, Enrico, Depenni, Roberta, Paccapelo, Alexandro, Ermani, Mario, Faedi, Marina, Sturiale, Carmelo, Michiara, Maria, Servadei, Franco, Pavesi, Giacomo, Urbini, Benedetta, Pisanello, Anna, Crisi, Girolamo, Cavallo, Michele A., Dazzi, Claudio, Biasini, Claudia, Bertolini, Federica, Mucciarini, Claudia, Pasini, Giuseppe, Baruzzi, Agostino, Brandes, Alba A., Baruzzi, A., Albani, F., Calbucci, F., D’Alessandro, R., Michelucci, R., Brandes, A., Eusebi, V., Ceruti, S., Fainardi, E., Tamarozzi, R., Emiliani, E., Cavallo, M., Franceschi, E., Tosoni, A., Cavallo, Marino, Fiorica, F., Valentini, A., Depenni, R., Mucciarini, C., Crisi, G., Sasso, Enrico, Biasini, C., Cavanna, L., Guidetti, D., Marcello, Norina, Pisanello, A., Cremonini, A. M., Guiducci, G., de Pasqua, S., Testoni, S., Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, Stefano, Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Crisci, M., Dall’Occa, P., de Biase, D., Ferro, S., Franceschi, C., Frezza, G., Grasso, Vincenzo, Leonardi, M., Marucci, G., Morandi, L., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Pession, A., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., Dall’Agata, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., Strumia, S., Faedi, M., Casmiro, M., Gamboni, A., Rasi, F., Cruciani, Giuseppe, Cenni, P., Dazzi, C., Guidi, A. R., Zumaglini, F., Amadori, A., Pasini, G., Pasquinelli, Mario, Pasquini, Elena, Polselli, A., Ravasio, A., Viti, B., Sintini, M., Ariatti, A., Bertolini, F., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, Greta, Zunarelli, E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C., Iaccarino, Corrado, Ragazzi, M., Rizzi, R., Zuccoli, G., Api, P., Cartei, F., Colella, Margherita, Fallica, E., Farneti, M., Frassoldati, A., Granieri, E., Latini, F., Monetti, C., Saletti, A., Schivalocchi, R., Sarubbo, S., Seraceni, S., Tola, M. R., Urbini, B., Zini, G., Giorgi, C., Montanari, E., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Servadei, F., Silini, E. M., Torelli, P., Immovilli, P., Morelli, N., Vanzo, C., and Nobile, C.

Subjects
Cancer Research, Oncology, Neurology, Neurology (clinical)
Published
2018

35. Epilepsy and Sleep: Close Connections and Reciprocal Influences

Author

Tinuper P., Bisulli F., Provini F., Marco Mula, Tinuper P., Bisulli F., and Provini F.

Subjects
epilepsy, sleep, arousal disorder, Noctural Frontal Lobe Seizures
Abstract

Epilepsy is a neurological condition that knows no geographic, social, or racial boundaries, occurring in men and women, affecting all ages, though more frequently affecting young people in the first two decades of life and people over the age of 60 years. It has been estimated that worldwide there are at least 50 million people who have epilepsy and more than 80% of people with epilepsy live in developing countries where the condition remains largely untreated. Epilepsy and epileptic seizures affect every aspect of a patient's cognitive, social, and emotional well-being. Also sleep disorders have an adverse impact on daily living for both patients and their caregivers.

Published
2016

36. Which elderly newly diagnosed glioblastoma patients can benefit from radiotherapy and temozolomide? A PERNO prospective study

Author

Franceschi, Enrico, Depenni, R., Paccapelo, Alexandro, Ermani, Mario, Faedi, M., Sturiale, Carmelo, Michiara, Maria, Servadei, F., Pavesi, Giacomo, Urbini, B., Pisanello, A., Crisi, G., Cavallo, Michele A., Dazzi, C., Biasini, C., Bertolini, F., Mucciarini, C., Pasini, G., Baruzzi, Agostino, Brandes, Alba A, Albani, F., Calbucci, F., D’Alessandro, R., Michelucci, R., de Pasqua, S., Testoni, S., Brandes, A., Franceschi, E., Tosoni, A., Eusebi, V., Ceruti, S., Fainardi, E., Tamarozzi, R., Emiliani, E., Cavallo, M., Fiorica, F., Sasso, E., Cavanna, L., Guidetti, D., Marcello, N., Cremonini, A. M., Guiducci, G., Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Crisci, M., Dall’Occa, P., de Biase, D., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Marucci, G., Morandi, L., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Pession, A., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., Dall’Agata, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., Strumia, S., Casmiro, M., Gamboni, A., Rasi, F., Cruciani, G., Cenni, P., Guidi, A. R., Zumaglini, F., Amadori, A., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., Viti, B., Sintini, M., Ariatti, A., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, Stefano, Nichelli, Paolo Frigio, Pettorelli, E., Pinna, G., Zunarelli, E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C., Iaccarino, C., Ragazzi, M., Rizzi, R., Zuccoli, G., Api, P., Cartei, F., Colella, M., Fallica, E., Farneti, M., Frassoldati, A., Granieri, E., Latini, F., Monetti, C., Saletti, A., Schivalocchi, R., Sarubbo, S., Seraceni, S., Tola, M. R., Zini, G., Giorgi, C., Montanari, E., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Silini, E. M., Torelli, P., Immovilli, P., Morelli, N., Vanzo, C., Nobile, C., Franceschi, E., Depenni, R., Paccapelo, Alexandro, Ermani, Mario, Faedi, M., Sturiale, Carmelo, Michiara, Maria, Servadei, F., Pavesi, Giacomo, Urbini, B., Pisanello, A., Crisi, G., Cavallo, Michele A., Dazzi, C., Biasini, C., Bertolini, F., Mucciarini, C., Pasini, G., Baruzzi, Agostino, Brandes, Alba A., Albani, F., Calbucci, F., D’Alessandro, R., Michelucci, R., de Pasqua, S., Testoni, S., Brandes, A., Tosoni, A., Eusebi, V., Ceruti, S., Fainardi, E., Tamarozzi, R., Emiliani, E., Cavallo, M., Fiorica, F., Sasso, E., Cavanna, L., Guidetti, D., Marcello, N., Cremonini, A.M., Guiducci, G., Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Crisci, M., Dall’Occa, P., de Biase, D., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Marucci, G., Morandi, L., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Pession, A., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., Dall’Agata, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., Strumia, S., Casmiro, M., Gamboni, A., Rasi, F., Cruciani, G., Cenni, P., Guidi, A.R., Zumaglini, F., Amadori, A., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., Viti, B., Sintini, M., Ariatti, A., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, G., Zunarelli, E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C., Iaccarino, C., Ragazzi, M., Rizzi, R., Zuccoli, G., Api, P., Cartei, F., Colella, M., Fallica, E., Farneti, M., Frassoldati, A., Granieri, E., Latini, F., Monetti, C., Saletti, A., Schivalocchi, R., Sarubbo, S., Seraceni, S., Tola, M.R., Zini, G., Giorgi, C., Montanari, E., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Silini, E.M., Torelli, P., Immovilli, P., Morelli, N., Vanzo, C., and Nobile, C.

Subjects
Oncology, medicine.medical_specialty, Cancer Research, medicine.medical_treatment, Dacarbazine, Population, Context (language use), NO, 03 medical and health sciences, 0302 clinical medicine, Elderly, Internal medicine, medicine, Temozolomide, Humans, MGMT methylation, Prospective Studies, Prospective cohort study, education, Promoter Regions, Genetic, Antineoplastic Agents, Alkylating, DNA Modification Methylases, Survival analysis, Aged, Aged, 80 and over, education.field_of_study, Radiotherapy, business.industry, Brain Neoplasms, Tumor Suppressor Proteins, Glioblastoma, Neurology (clinical), Neurology, DNA Methylation, Survival Analysis, Surgery, Radiation therapy, DNA Repair Enzymes, 030220 oncology & carcinogenesis, Concomitant, business, 030217 neurology & neurosurgery, medicine.drug
Abstract

The role of temozolomide concurrent with and adjuvant to radiotherapy (RT/TMZ) in elderly patients with glioblastoma (GBM) remains unclear. We evaluated the outcome of patients >70 years in the context of the Project of Emilia-Romagna Region in Neuro-Oncology (PERNO), the first Italian prospective observational population-based study in neuro-oncology. For this analysis the criteria for selecting patients enrolled in the PERNO study were: age >70 years; PS 0–3; histologically confirmed GBM; postoperative radiotherapy (RT) after surgery with or without concomitant temozolomide (TMZ) or postsurgical TMZ alone. Between January 2009 and December 2010, 76 GBM elderly patients were identified in the prospective PERNO study. Twenty-three patients did not receive any treatment after surgery, and 53 patients received postsurgical treatments (25 patients received RT alone and 28 patients RT/TMZ). Median survival was 11.1 months (95 % CI 8.8–13.5), adding temozolomide concomitant and adjuvant to radiotherapy it was 11.6 months (95 % CI 8.6–14.6), and 9.3 months (95 % CI 8.1–10.6) in patients treated with RT alone (P = 0.164). However, patients with MGMT methylated treated with RT/TMZ obtained a better survival (17.2 months, 95 % CI 11.5–22.9) (P = 0.042). No difference in terms of survival were observed if patients with MGMT unmethylated tumor received RT alone, or RT/TMZ or, in MGMT methylated tumor, if patients received radiotherapy alone. In elderly patients RT/TMZ represent a widely used approach but it is effective with methylated MGMT tumors only.

Published
2016

37. Erratum to: Incidence of neuroepithelial primary brain tumors among adult population of Emilia-Romagna Region, Italy

Author

Baldin, E, Testoni, S, de Pasqua, S, Ferro, S, Albani, F, Baruzzi, A, D'Alessandro, R, PERNO study group Participants: Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Cerasoli, S., Crisci, M., Dall’Occa, P., de Biase, D., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Marucci, G., Morandi, L., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Pession, A., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., (Bologna), Visani M., Dall’Agata, M., Faedi, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A. ., (ForlI´-Cesena), Strumia S., Casmiro, M., Gamboni, A., (Faenza, Rasi F., RA), (Lugo, Cruciani G., Cenni, P., Dazzi, C., Guidi, A. R., (Ravenna), Zumaglini F., Amadori, A., Pasini, G., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., (Rimini), Viti B., (Cattolica, Sintini M., RN), Ariatti, A., Bertolini, F., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, G., (Modena), Zunarelli E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., (Carpi, Stucchi C., MO), Iaccarino, C, Ragazzi, M., Rizzi, R., (Reggio Emilia), Zuccoli G., Api, P., Cartei, F., Fallica, E., Granieri, E., Latini, F., Lelli, G., Monetti, C., Saletti, A., Schivalocchi, R., Seraceni, S., Tola, M. R., (Ferrara), Urbini B., Giorgi, C., (Fidenza, Montanari E., PR), Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Servadei, F., Silini, Em., (Parma), Torelli P., Immovilli, P., Morelli, N., (Piacenza), Vanzo C., Nobile, C. (Padova)., Elisa Baldin, Stefania Testoni, Silvia de Pasqua, Salvatore Ferro, Fiorenzo Albani, Agostino Baruzzi, Roberto D’Alessandro, On behalf of PERNO study group, ELENA BONORA, and DARIO DE BIASE

Subjects
Psychiatry and Mental Health, Dermatology, General Medicine, Neurology (clinical)
Abstract

Unfortunately, some of the participants of the PERNO Study Group are missing in the original publication of the article. The correct details are given below: Participants: Agati R., Ambrosetto G., Bacci A., Baldin E., Baldrati A., Barbieri E., Bartolini S., Bellavista E., Bisulli F., Bonora E., Bunkheila F., Carelli V., Cerasoli S., Crisci M., Dall’Occa P., de Biase D., Ferro S., Franceschi C., Frezza G., GrassoV., Leonardi M., Marucci G., Morandi L., Mostacci B., Palandri G., Pasini E., Pastore Trossello M., Pession A., Poggi R., Riguzzi P., Rinaldi R., Rizzi S., Romeo G., Spagnolli F., Tinuper P., Trocino C., Visani M. (Bologna), Dall’Agata M., Faedi M., Frattarelli M., Gentili G., Giovannini A., Iorio P., Pasquini U., Galletti G., Guidi C., Neri W., Patuelli A.., Strumia S. (ForlÍ-Cesena), Casmiro M., Gamboni A., Rasi F. (Faenza, RA), Cruciani G. (Lugo, RA), Cenni P., Dazzi C., Guidi A.R., Zumaglini F. (Ravenna), Amadori A., Pasini G., Pasquinelli M., Pasquini E., Polselli A., Ravasio A., Viti B. (Rimini), Sintini M. (Cattolica, RN), Ariatti A., Bertolini F., Bigliardi G., Carpeggiani P., Cavalleri F., Meletti S., Nichelli P., Pettorelli E., Pinna G., Zunarelli E. (Modena), Artioli F., Bernardini I., Costa M., Greco G., Guerzoni R., Stucchi C. (Carpi, MO), Iaccarino C., Ragazzi M., Rizzi R., Zuccoli G. (Reggio Emilia), Api P., Cartei F., Fallica E., Granieri E., Latini F., Lelli G., Monetti C., Saletti A., Schivalocchi R., Seraceni S., Tola M.R., Urbini B. (Ferrara), Giorgi C., Montanari E. (Fidenza, PR), Cerasti D., Crafa P., Dascola I., Florindo I., Giombelli E., Mazza S., Ramponi V., Servadei F., Silini EM., Torelli P. (Parma), Immovilli P., Morelli N., Vanzo C. (Piacenza), Nobile C. (Padova).

Published
2017

38. Erratum to: Survival prediction in high-grade gliomas using CT perfusion imaging [J Neurooncol (2015) 123, 93-102, DOI 10.1007/s11060-015-1766-5]

Author

Yeung T. P. C., Wang Y., He W., Urbini B., Gafa R., Ulazzi L., Yartsev S., Bauman G., Lee T. -Y., Fainardi E., Baruzzi A., Albani F., Calbucci F., D'alessandro R., Michelucci R., Brandes A., Eusebi V., Ceruti S., Tamarozzi R., Emiliani E., Cavallo M., Franceschi E., Tosoni A., Fiorica F., Valentini A., Depenni R., Mucciarini C., Crisi G., Sasso E., Biasini C., Cavanna L., Guidetti D., Marcello N., Pisanello A., Cremonini A. M., Guiducci G., de Pasqua S., Testoni S., Agati R., Ambrosetto G., Bacci A., Baldin E., Baldrati A., Barbieri E., Bartolini S., Bellavista E., Bisulli F., Bonora E., Bunkheila F., Carelli V., Crisci M., Dall'occa P., de Biase D., Ferro S., Franceschi C., Frezza G., Grasso V., Leonardi M., Marucci G., Morandi L., Mostacci B., Palandri G., Pasini E., Pastore Trossello M., Pession A., Poggi R., Riguzzi P., Rinaldi R., Rizzi S., Romeo G., Spagnolli F., Tinuper P., Trocino C., Dall'agata M., Frattarelli M., Gentili G., Giovannini A., Iorio P., Pasquini U., Galletti G., Guidi C., Neri W., Patuelli A., Strumia S., Faedi M., Casmiro M., Gamboni A., Rasi F., Cruciani G., Cenni P., Dazzi C., Guidi A. R., Zumaglini F., Amadori A., Pasini G., Pasquinelli M., Pasquini E., Polselli A., Ravasio A., Viti B., Sintini M., Ariatti A., Bertolini F., Bigliardi G., Carpeggiani P., Cavalleri F., Meletti S., Nichelli P., Pettorelli E., Pinna G., Zunarelli E., Artioli F., Bernardini I., Costa M., Greco G., Guerzoni R., Stucchi C., Iaccarino C., Ragazzi M., Rizzi R., Zuccoli G., Api P., Cartei F., Colella M., Fallica E., Farneti M., Frassoldati A., Granieri E., Latini F., Monetti C., Saletti A., Schivalocchi R., Sarubbo S., Seraceni S., Tola M. R., Zini G., Giorgi C., Montanari E., Cerasti D., Crafa P., Dascola I., Florindo I., Giombelli E., Mazza S., Ramponi V., Servadei F., Silini E. M., Torelli P., Immovilli P., Morelli N., Vanzo C., Nobile C., Yeung T.P.C., Wang Y., He W., Urbini B., Gafa R., Ulazzi L., Yartsev S., Bauman G., Lee T.-Y., Fainardi E., Baruzzi A., Albani F., Calbucci F., D'alessandro R., Michelucci R., Brandes A., Eusebi V., Ceruti S., Tamarozzi R., Emiliani E., Cavallo M., Franceschi E., Tosoni A., Fiorica F., Valentini A., Depenni R., Mucciarini C., Crisi G., Sasso E., Biasini C., Cavanna L., Guidetti D., Marcello N., Pisanello A., Cremonini A.M., Guiducci G., de Pasqua S., Testoni S., Agati R., Ambrosetto G., Bacci A., Baldin E., Baldrati A., Barbieri E., Bartolini S., Bellavista E., Bisulli F., Bonora E., Bunkheila F., Carelli V., Crisci M., Dall'occa P., de Biase D., Ferro S., Franceschi C., Frezza G., Grasso V., Leonardi M., Marucci G., Morandi L., Mostacci B., Palandri G., Pasini E., Pastore Trossello M., Pession A., Poggi R., Riguzzi P., Rinaldi R., Rizzi S., Romeo G., Spagnolli F., Tinuper P., Trocino C., Dall'agata M., Frattarelli M., Gentili G., Giovannini A., Iorio P., Pasquini U., Galletti G., Guidi C., Neri W., Patuelli A., Strumia S., Faedi M., Casmiro M., Gamboni A., Rasi F., Cruciani G., Cenni P., Dazzi C., Guidi A.R., Zumaglini F., Amadori A., Pasini G., Pasquinelli M., Pasquini E., Polselli A., Ravasio A., Viti B., Sintini M., Ariatti A., Bertolini F., Bigliardi G., Carpeggiani P., Cavalleri F., Meletti S., Nichelli P., Pettorelli E., Pinna G., Zunarelli E., Artioli F., Bernardini I., Costa M., Greco G., Guerzoni R., Stucchi C., Iaccarino C., Ragazzi M., Rizzi R., Zuccoli G., Api P., Cartei F., Colella M., Fallica E., Farneti M., Frassoldati A., Granieri E., Latini F., Monetti C., Saletti A., Schivalocchi R., Sarubbo S., Seraceni S., Tola M.R., Zini G., Giorgi C., Montanari E., Cerasti D., Crafa P., Dascola I., Florindo I., Giombelli E., Mazza S., Ramponi V., Servadei F., Silini E.M., Torelli P., Immovilli P., Morelli N., Vanzo C., and Nobile C.

Subjects
PERNO, Gender, Glioblastoma, MGMT, Methylation
Abstract

Background: Clinical and molecular factors are essential to define the prognosis in patients with glioblastoma (GBM). O6-methylguanine-DNA methyltransferase (MGMT) methylation status, age, Karnofsky Performance Status (KPS), and extent of surgical resection are the most relevant prognostic factors. Our investigation of the role of gender in predicting prognosis shows a slight survival advantage for female patients. Methods: We performed a prospective evaluation of the Project of Emilia Romagna on Neuro-Oncology (PERNO) registry to identify prognostic factors in patients with GBM who received standard treatment. Results: A total of 169 patients (99 males [58.6%] and 70 females [41.4%]) were evaluated prospectively. MGMT methylation was evaluable in 140 patients. Among the male patients, 36 were MGMT methylated (25.7%) and 47 were unmethylated (33.6%); among the female patients, 32 were methylated (22.9%) and 25 were unmethylated (17.9%). Survival was longer in the methylated females compared with the methylated males (P = 0.028) but was not significantly different between the unmethylated females and the unmethylated males (P = 0.395). In multivariate analysis, gender and MGMT methylation status considered together (methylated females vs. methylated males; hazard ratio [HR], 0.459; 95% confidence interval [CI], 0.242-0.827; P = 0.017), age (HR, 1.025; 95% CI, 1.002-1.049; P = 0.032), and KPS (HR, 0.965; 95% CI, 0.948-0.982; P < 0.001) were significantly correlated with survival. Conclusions: Survival was consistently longer among MGMT methylated females compared with males. Gender can be considered as a further prognostic factor.

Published
2015

39. Insight into epileptic and physiological déjà vu: from a multicentric cohort study.

Author

Labate, A., Baggetta, R., Trimboli, M., Tripepi, G., Bisulli, F., D'Aniello, A., Daniele, O., Di Bonaventura, C., Di Gennaro, G., Fattouch, J., Ferlazzo, E., Ferrari, A., Gasparini, S., Giallonardo, A., La Neve, A., Romigi, A., Sofia, V., Tinuper, P., Zummo, L., and Aguglia, U.

Abstract

Background and purpose: The presence of a continuum between physiological déjà vu (DV) and epileptic DV is still not known as well as epidemiological data in the Italian population. The aim was to identify the epidemiological distribution of DV in Italy, and secondly to look for specific features of DV able to discriminate between epileptic and non‐epileptic DV. Methods: In all, 1000 individuals, 543 healthy controls (C) (313 women; age 40 ± 15 years) and 457 patients with epilepsy (E) (260 women; age 39 ± 14 years), were prospectively recruited from 10 outpatient neurological clinics throughout Italy. All populations were screened using the Italian Inventory for Déjà Vu Experiences Assessment (I‐IDEA) test and E and pairwise C underwent a comprehensive epilepsy interview. Results: Of E, 69% stated that they experienced 'recognition' and 13.2% reported that this feeling occurred from a few times a month to at least weekly (versus 7.7% of the control group). Furthermore, a greater percentage of E (6.8% vs. 2.2%) reported that from a few times a month to at least weekly they felt that it seemed as though everything around was not real. In E, the feeling of recognition raised fright (22.3% vs. 13.2%) and a sense of oppression (19.4% vs. 9.4%). A fifth of E felt recognition during epileptic seizures. Conclusion: Only E regardless of aetiology firmly answered that they had the feeling of recognition during an epileptic seizure; thus question 14 of the I‐IDEA test part 2 discriminated E from C. Paranormal activity, remembering dreams and travel frequency were mostly correlated to DV in E suggesting that the visual–memory network might be involved in epileptic DV. [ABSTRACT FROM AUTHOR]

Published
2019
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41. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

Author

Leu C, de Kovel CG, Zara F, Striano P, Pezzella M, Robbiano A, Bianchi A, Bisulli F, Coppola A, Giallonardo AT, Beccaria F, Trenité DK, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Kleefuss Lie AA, Hallman K, Kunz WS, Elger CE, Muhle H, Stephani U, Møller RS, Hjalgrim H, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Nabbout R, Baulac S, Leguern E, Serratosa JM, Rosenow F, Feucht M, Unterberger I, Covanis A, Suls A, Weckhuysen S, Kaneva R, Caglayan H, Turkdogan D, Baykan B, Bebek N, Ozbek U, Hempelmann A, Schulz H, Rüschendorf F, Trucks H, Nürnberg P, Avanzini G, Koeleman BP, Sander T, EPICURE Consortium, COPPOLA, ANTONIETTA, DEL GIUDICE, ENNIO, Leu, C, de Kovel, Cg, Zara, F, Striano, P, Pezzella, M, Robbiano, A, Bianchi, A, Bisulli, F, Coppola, A, Giallonardo, At, Beccaria, F, Trenité, Dk, Lindhout, D, Gaus, V, Schmitz, B, Janz, D, Weber, Yg, Becker, F, Lerche, H, Kleefuss Lie, Aa, Hallman, K, Kunz, W, Elger, Ce, Muhle, H, Stephani, U, Møller, R, Hjalgrim, H, Mullen, S, Scheffer, Ie, Berkovic, Sf, Everett, Kv, Gardiner, Mr, Marini, C, Guerrini, R, Lehesjoki, Ae, Siren, A, Nabbout, R, Baulac, S, Leguern, E, Serratosa, Jm, Rosenow, F, Feucht, M, Unterberger, I, Covanis, A, Suls, A, Weckhuysen, S, Kaneva, R, Caglayan, H, Turkdogan, D, Baykan, B, Bebek, N, Ozbek, U, Hempelmann, A, Schulz, H, Rüschendorf, F, Trucks, H, Nürnberg, P, Avanzini, G, Koeleman, Bp, Sander, T, Epicure, Consortium, DEL GIUDICE, Ennio, and Coppola, Antonietta

Published
2012

42. Expression of 19 microRNAs in glioblastoma and comparison with other brain neoplasia of grades I-III

Author

Visani, M, de Biase, D, Marucci, G, Cerasoli, S, Nigrisoli, E, Bacchi Reggiani ML, Albani, F, Baruzzi, A, Pession, A, Calbucci, F, D'Alessandro, R, Michelucci, R, Brandes, A, Eusebi, V, Ceruti, S, Fainardi, E, Tamarozzi, R, Emiliani, E, Cavallo, M, Franceschi, E, Tosoni, A, Fiorica, F, Valentini, A, Depenni, R, Mucciarini, C, Crisi, G, Sasso, E, Biasini, C, Cavanna, L, Guidetti, D, Marcello, N, Pisanello, A, Cremonini, Am, Guiducci, G, Agati, R, Ambrosetto, G, Bacci, A, Baldin, E, Baldrati, A, Barbieri, E, Bartolini, S, Bellavista, E, Bisulli, F, Bonora, E, Bunkheila, F, Carelli, V, Crisci, M, Dall'Occa, P, Ferro, S, Franceschi, C, Frezza, G, Grasso, V, Leonardi, M, Morandi, L, Mostacci, B, Palandri, G, Pasini, E, Pastore Trossello, M, Poggi, R, Riguzzi, P, Rinaldi, R, Rizzi, S, Romeo, G, Spagnolli, F, Tinuper, P, Trocino, C, Dall'Agata, M, Frattarelli, M, Gentili, G, Giovannini, A, Iorio, P, Pasquini, U, Galletti, G, Guidi, C, Neri, W, Patuelli, A, Strumia, S, Faedi, M, Casmiro, M, Gamboni, A, Rasi, F, Cruciani, G, Cenni, P, Dazzi, C, Guidi, Ar, Zumaglini, F, Amadori, A, Pasini, G, Pasquinelli, M, Pasquini, E, Polselli, A, Ravasio, A, Viti, B, Sintini, M, Ariatti, A, Bertolini, F, Bigliardi, G, Carpeggiani, P, Cavalleri, F, Meletti, S, Nichelli, P, Pettorelli, E, Pinna, G, Zunarelli, E, Artioli, F, Bernardini, I, Costa, M, Greco, G, Guerzoni, R, Stucchi, C, Iaccarino, C, Ragazzi, M, Rizzi, R, Zuccoli, G, Api, P, Cartei, F, Fallica, E, Granieri, E, Latini, F, Lelli, G, Monetti, C, Saletti, A, Schivalocchi, R, Seraceni, S, Tola, Mr, Urbini, B, Giorgi, C, Montanari, E, Cerasti, D, Crafa, P, Dascola, I, Florindo, I, Giombelli, E, Mazza, S, Ramponi, V, Servadei, F, Silini, Em, Torelli, P, Immovilli, P, Morelli, N, Vanzo, C, Nobile, C, Michela Visani, Dario de Biase, Gianluca Marucci, Serenella Cerasoli, Evandro Nigrisoli, Maria Letizia Bacchi Reggiani, Fiorenzo Albani, Agostino Baruzzi, Annalisa Pession, the PERNO study group [, Elena Bonora, and ]

Subjects
Adult, Male, Cancer Research, Low-grade brain tumor, Brain neoplasia, Glioblastoma, Low-grade brain tumors, MicroRNA, Real-time PCR, Aged, Brain Neoplasms, Female, Gene Expression Profiling, Humans, MicroRNAs, Middle Aged, Neoplasm Grading, RNA, Neoplasm, Gene Expression Regulation, Neoplastic, Genetics, Molecular Medicine, Biology, Bioinformatics, medicine.disease_cause, NO, Brain Neoplasm, Genetic, microRNA, medicine, Locked nucleic acid, MicroRNA, Glioblastoma, Brain neoplasia, Low-grade brain tumors, Real-time PCR, Cancer, General Medicine, medicine.disease, Molecular medicine, Fold change, Gene expression profiling, Real-time polymerase chain reaction, Oncology, Cancer research, Carcinogenesis, Corrigendum, Human
Abstract

Several biomarkers have been proposed as useful parameters to better specify the prognosis or to delineate new target therapy strategies for glioblastoma patients. MicroRNAs could represent putative target molecules, considering their role in tumorigenesis, cancer progression and their specific tissue expression. Although several studies have tried to identify microRNA signature for glioblastoma, a microRNA profile is still far from being well-defined. In this work the expression of 19 microRNAs (miR-7, miR-9, miR-9∗, miR-10a, miR-10b, miR-17, miR-20a, miR-21, miR-26a, miR-27a, miR-31, miR-34a, miR-101, miR-137, miR-182, miR-221, miR-222, miR-330, miR-519d) was evaluated in sixty formalin-fixed and paraffin-embedded glioblastoma samples using a locked nucleic acid real-time PCR. Moreover, a comparison of miRNA expressions was performed between primary brain neoplasias of different grades (grades IV-I). The analysis of 14 validated miRNA expression in the 60 glioblastomas, using three different non-neoplastic references as controls, revealed a putative miRNA signature: mir-10b and miR-21 were up-regulated, while miR-7, miR-31, miR-101, miR-137, miR-222 and miR-330 were down-regulated in glioblastomas. Comparing miRNA expression between glioblastoma group and gliomas of grades I-III, 3 miRNAs (miR-10b, mir-34a and miR-101) showed different regulation statuses between high-grade and low-grade tumors. miR-10b was up-regulated in high grade and significantly down-regulated in low-grade gliomas, suggesting that could be a candidate for a GBM target therapy. This study provides further data for the identification of a miRNA profile for glioblastoma and suggests that different-grade neoplasia could be characterized by different expression of specific miRNAs.

Published
2014

43. Definition of miRNAs Expression Profile in Glioblastoma Samples: The Relevance of Non-Neoplastic Brain Reference

Author

Visani, Michela, De Biase, Dario, Marucci, Gianluca, Taccioli, Cristian, Baruzzi, Agostino, Pession, Annalisa, Baruzzi, A., Albani, F., Calbucci, F., D'alessandro, R., Michelucci, R., Brandes, A., Eusebieusebi, V., Ceruti, S., Fainardi, E., Tamarozzi, R., Emiliani, E., Cavallo, M., Franceschi, E., Tosoni, A., Fiorica, F., Valentini, A., Depenni, R., Mucciarini, C., Crisi, G., Sasso, E., Biasini, C., Cavanna, L., Guidetti, D., Marcello, N., Pisanello, A., Cremonini, A. M., Guiducci, G., De Pasqua, S., Testoni, S., Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Crisci, M., Dall'occa, P., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., Cerasoli, S., Dall'agata, M., Faedi, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., Strumia, S., Casmiro, M., Gamboni, A., Rasi, F., Cruciani, G., Cenni, P., Dazzi, C., Guidi, A. R., Zumaglini, F., Amadori, A., Pasini, G., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., Viti, B., Sintini, M., Ariatti, A., Bertolini, F., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, G., Zunarelli, E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C., Iaccarino, C., Ragazzi, M., Rizzi, R., Zuccoli, G., Api, P., Cartei, F., Fallica, E., Granieri, E., Latini, F., Lelli, G., Monetti, C., Saletti, A., Schivalocchi, R., Seraceni, S., Tola, M. R., Urbini, B., Giorgi, C., Montanari, E., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Servadei, F., Silini, E. M., Torelli, P., Immovilli, P., Morelli, N., Vanzo, C., Nobile, C., M. Visani, D. de Biase, G. Marucci, C. Taccioli, A. Baruzzi, A. Pession, Perno Study Group, F. Albani, V. Eusebi, F. Bisulli, V. Carelli, M. Leonardi, B. Mostacci, P. Tinuper, the PERNO Study group [, E. Bonora, and ]

Subjects
Male, Genetics and Molecular Biology (all), Adult, Aged, Brain, Female, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Glioblastoma, Humans, MicroRNAs, Middle Aged, Real-Time Polymerase Chain Reaction, Reference Values, Statistics, Nonparametric, Biochemistry, Genetics and Molecular Biology (all), Agricultural and Biological Sciences (all), Gene Expression, Bioinformatics, Biochemistry, Surgical oncology, Nucleic Acids, metabolism, Female, Gene Expression Profiling, Molecular Cell Biology, Basic Cancer Research, Gene expression, normal adjacent the tumor, Neurological Tumors, methods, Gene Expression Regulation, brain tumors, glioblastoma, miRNAs, Multidisciplinary, Cancer Risk Factors, Medicine (all), Statistics, non-neoplastic brain, Real-time polymerase chain reaction, Oncology, miRNAs, Medicine, DNA microarray, brain RNA commercial reference, Research Article, Adult, Aged, Brain, Neoplastic, genetics/physiology, Glioblastoma, metabolism, Humans, Male, MicroRNAs, metabolism, Middle Aged, Real-Time Polymerase Chain Reaction, Reference Values, Statistics, Nonparametric, Science, Brain tumor, Biology, NO, Molecular Genetics, epileptic tissue, Text mining, microRNA, medicine, miRNA, business.industry, Computational Biology, Cancers and Neoplasms, medicine.disease, Gene expression profiling, Gene Expression Regulation, Cancer research, RNA, brain tumors, metabolism, Middle Aged, Real-Time Polymerase Chain Reaction, Reference Values, Statistic, business, metabolism, Humans, Male, MicroRNA, Glioblastoma Multiforme
Abstract

Glioblastoma is the most aggressive brain tumor that may occur in adults. Regardless of the huge improvements in surgery and molecular therapy, the outcome of neoplasia remains poor. MicroRNAs are small molecules involved in several cellular processes, and their expression is altered in the vast majority of tumors. Several studies reported the expression of different miRNAs in glioblastoma, but one of the most critical point in understanding glioblastoma miRNAs profile is the comparison of these studies. In this paper, we focused our attention on the non-neoplastic references used for determining miRNAs expression. The aim of this study was to investigate if using three different non-neoplastic brain references (normal adjacent the tumor, commercial total RNA, and epileptic specimens) could provide discrepant results. The analysis of 19 miRNAs was performed using Real-Time PCR, starting from the set of samples described above and the expression values compared. Moreover, the three different normal RNAs were used to determine the miRNAs profile in 30 glioblastomas. The data showed that different non-neoplastic controls could lead to different results and emphasize the importance of comparing miRNAs profiles obtained using the same experimental condition.

Published
2013

44. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1,2q22.3 and 17q21.32

Author

Steffens, M., Leu, C., Ruppert, A., Zara, F., Striano, P., Robbiano, A., Capovilla, G., Tinuper, P., Gambardella, A., Bianchi, A., La neve, A., Crichiutti, G., de kovel, C. G., Trenité, D. K. -N., de haan, G., Lindhout, D., Gaus, V., Schmitz, B., Janz, D., Weber, Y. G., Becker, F., Lerche, H., Steinhoff, B. J., Kleefuß-Lie, A. A., Kunz, W. S., Surges, R., Elger, C. E., Muhle, H., Von spiczak, S., Ostertag, P., Helbig, I., Stephani, U., Møller, R. S., Hjalgrim, H., Dibbens, L. M., Bellows, S., Oliver, K., Mullen, S., Scheffer, I. E., Berkovic, S. F., Everett, K. V., Gardiner, M. R., Marini, Chiara, Guerrini, R., Lehesjoki, A., Siren, A., Guipponi, M., Malafosse, A., Thomas, P., Nabbout, R., Baulac, S., Leguern, E., Guerrero, R., Serratosa, J. M., Reif, P. S., Rosenow, F., Mörzinger, M., Feucht, M., Zimprich, F., Kapser, C., Schankin, C. J., Suls, A., Smets, K., De jonghe, P., Jordanova, A., Caglayan, H., Yapici, Z., Yalcin, D. A., Baykan, B., Bebek, N., Ozbek, U., Gieger, C., Wichmann, H., Balschun, T., Ellinghaus, D., Franke, A., Meesters, C., Becker, T., Wienker, T. F., Hempelmann, A., Schulz, H., Rüschendorf, F., Leber, M., Pauck, S. M., Trucks, H., Toliat, M. R., Nürnberg, P., Avanzini, G., Koeleman, B. P., Sander, T., Weckhuysen, S., Claes, L., Deprez, L., Van Dyck, T., Deconinck, T., De Jonghe, P., Velizarova, R., Dimova, P., Radionova, M., Tournev, I., Kancheva, D., Kaneva, R., Lehesjoki, A. -E., von Spiczak, S., Martin Klein, K., Oertel, W. H., Hamer, H. M., Marini, C., Mei, D., Norci, V., Pezzella, M., La Neve, A., Vigliano, P., Vanadia, F., Vignoli, A., Coppola, A., Striano, S., Egeo, G., Teresa Giallonardo, M., Franceschetti, S., Belcastro, V., Benna, P., Coppola, G., De Palo, A., Ferlazzo, E., Vecchi, M., Martinelli, V., Bisulli, F., Beccaria, F., Del Giudice, E., Mancardi, M., Stranci, G., Scabar, A., Gobbi, G., Giordano, I., de Haan, G. -J., Giraldez, B. G., Ozbeck, U., Ozdemir, O., Ugur, S., Kocasoy-Orhan, E., Yücesan, E., Cine, N., Gokyigit, A., Gurses, C., Gul, G., Ozkara, C., Yalcin, O., Turkdogan, D., Dizdarer, G., Agan, K., Steffens, Michael, Leu, Costin, Ruppert, Ann-Kathrin, Zara, Frederico, Dibbens, Leanne Michelle, Sander, Thomas, EPICURE Consortium, Epicure, Consortium, DEL GIUDICE, Ennio, Steffens, M, Leu, C, Ruppert, Ak, Zara, F, Striano, P, Robbiano, A., Coppola, Antonietta, E. P. I. C. U. R. E. Consortium, E. M. I.Net Consortium, M. Steffen, C. Leu, A. Ruppert, F. Zara, P. Striano, A. Robbiano, G. Capovilla, P. Tinuper, A. Gambardella, A. Bianchi, A. L. Neve, G. Crichiutti, C. G. F, D. K. Trenité, G. d. Haan, D. Lindhout, V. Gau, B. Schmitz, D. Janz, Y. G. Weber, F. Becker, H. Lerche, B. J. Steinhoff, A. A. Kleefuß-Lie, W. S. Kunz, R. Surge, C. E. Elger, H. Muhle, S. v. Spiczak, P. Ostertag, I. Helbig, U. Stephani, R. S. Møller, H. Hjalgrim, L. M. Dibben, S. Bellow, K. Oliver, S. Mullen, I. E. Scheffer, S. F. Berkovic, K. V. Everett, M. R. Gardiner, C. Marini, R. Guerrini, A. Lehesjoki, A. Siren, M. Guipponi, A. Malafosse, P. Thoma, R. Nabbout, S. Baulac, E. Leguern, R. Guerrero, J. M. Serratosa, P. S. Reif, F. Rosenow, M. Mörzinger, M. Feucht, F. Zimprich, C. Kapser, C. J. Schankin, A. Sul, K. Smet, P. D. Jonghe, A. Jordanova, H. Caglayan, Z. Yapici, D. A. Yalcin, B. Baykan, N. Bebek, U. Ozbek, C. Gieger, H. Wichmann, T. Balschun, D. Ellinghau, A. Franke, C. Meester, T. Becker, T. F. Wienker, A. Hempelmann, H. Schulz, F. Rüschendorf, M. Leber, S. M. Pauck, H. Truck, M. R. Toliat, P. Nürnberg, G. Avanzini, B. P. C, and T. Sander

Subjects
Candidate gene, Juvenile, Genome-wide association study, Alleles, Epilepsy, ZEB2 protein, human, VRK2 protein, human, 0302 clinical medicine, genetics [Genetic Predisposition to Disease], genetics, Humans, Myoclonic Epilepsy, genetics [Epilepsy, Generalized], SCN1A protein, human, Genetics (clinical), Genetics, 0303 health sciences, genetics [Epilepsy, Absence], Myoclonic Epilepsy, Juvenile, genetics, Genetic Predisposition to Disease, General Medicine, Protein-Serine-Threonine Kinases, 3. Good health, Chemistry, Absence, genetics, Epilepsy, genetics [Myoclonic Epilepsy, Juvenile], Epilepsy, Generalized, genetics [Receptor, Muscarinic M3], genetics, NAV1.1 Voltage-Gated Sodium Channel, genetics [Homeodomain Proteins], Single-nucleotide polymorphism, genetics [NAV1.1 Voltage-Gated Sodium Channel], Protein Serine-Threonine Kinases, Biology, genetics [Protein-Serine-Threonine Kinases], 03 medical and health sciences, ddc:570, Genetic variation, medicine, Humans, Genetic Predisposition to Disease, genetics, Repressor Protein, Allele, Molecular Biology, Alleles, Zinc Finger E-box Binding Homeobox 2, 030304 developmental biology, Homeodomain Proteins, Receptor, Muscarinic M3, genetics, Protein-Serine-Threonine Kinase, genetics, Receptor, Generalized, genetics, Genome-Wide Association Study, Homeodomain Protein, Heritability, medicine.disease, NAV1.1 Voltage-Gated Sodium Channel, Repressor Proteins, genetics [Repressor Proteins], Muscarinic M3, Epilepsy, Absence, Myoclonic epilepsy, Human medicine, Juvenile myoclonic epilepsy, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3\% and account for 20-30\% of all epilepsies. Despite their high heritability of 80\%, the genetic factors predisposing to GGEs remain elusive. To identify susceptibility variants shared across common GGE syndromes, we carried out a two-stage genome-wide association study (GWAS) including 3020 patients with GGEs and 3954 controls of European ancestry. To dissect out syndrome-related variants, we also explored two distinct GGE subgroups comprising 1434 patients with genetic absence epilepsies (GAEs) and 1134 patients with juvenile myoclonic epilepsy (JME). Joint Stage-1 and 2 analyses revealed genome-wide significant associations for GGEs at 2p16.1 (rs13026414, P(meta) = 2.5 × 10(-9), OR[T] = 0.81) and 17q21.32 (rs72823592, P(meta) = 9.3 × 10(-9), OR[A] = 0.77). The search for syndrome-related susceptibility alleles identified significant associations for GAEs at 2q22.3 (rs10496964, P(meta) = 9.1 × 10(-9), OR[T] = 0.68) and at 1q43 for JME (rs12059546, P(meta) = 4.1 × 10(-8), OR[G] = 1.42). Suggestive evidence for an association with GGEs was found in the region 2q24.3 (rs11890028, P(meta) = 4.0 × 10(-6)) nearby the SCN1A gene, which is currently the gene with the largest number of known epilepsy-related mutations. The associated regions harbor high-ranking candidate genes: CHRM3 at 1q43, VRK2 at 2p16.1, ZEB2 at 2q22.3, SCN1A at 2q24.3 and PNPO at 17q21.32. Further replication efforts are necessary to elucidate whether these positional candidate genes contribute to the heritability of the common GGE syndromes.

Published
2012
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46. Health-related quality of life in epilepsy: findings obtained with a new Italian instrument

Author

Piazzini, A, Beghi, E, Turner, K, Ferraroni, M, Aguglia, U, Antonini, L, Benna, Paolo, Ferrero, M, Bogliun, G, Canevini, Mp, Daniele, O, Franceschetti, S, Casazza, M, Arienti, F, Galli, R, Pizzanelli, C, Gambardella, A, Garofalo, Pg, Durisotti, C, Marotti, E, Giallonardo, At, Di Bonaventura, C, Guizzaro, A, Iudice, A, Bartolini, E, Magaudda, A, Malvezzi, L, Giorgi, C, Mazza, S, Vaccario, Ml, Mecarelli, O, Pulitano, P, Musolino, R, Onofrj, M, Ortenzi, A, Paggi, A, Rocchi, R, Pucci, B, Specchio, Lm, Castrota, O, Striano, S, Striano, P, Tata, Mr, Tinuper, P, Bisulli, F, and Licchetta, L.

Subjects
quality of life, epilepsy, Italian instrument
Published
2008

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