Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Susanna Negrin"'
Autor:
Alice Bonuccelli, Elisabetta Cesaroni, Emanuela Claudia Turco, Alessandro Orsini, Luca Zagaroli, Giuseppe Di Cara, Salvatore Savasta, Maurizio Elia, Alberto Verrotti, Pasquale Striano, Sara Matricardi, Francesca Felicia Operto, Daniela Concolino, Alberto Danieli, Susanna Negrin, Giulia Iapadre, Marco Carotenuto, Paolo Bonanni, Francesco Pisani
Background and purpose: Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder caused by deletions/variants in the TCF4 gene. Seizures may be present in up to half of the patients, leading to a more severe disease burden. This study aims
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68d1f9065d2ba5fa925cc85b5181f25b
http://hdl.handle.net/11391/1523034
http://hdl.handle.net/11391/1523034
Autor:
Irene Toldo, Massimiliano Valeriani, Maria Margherita Mancardi, Tullio Messana, Paolo Curatolo, Oliviero Bruni, Susanna Negrin, Romina Moavero, Luigi Mazzone, Alessandra Voci, Francesca La Briola, Sara Matricardi
Publikováno v:
Moavero, R, Voci, A, La Briola, F, Matricardi, S, Toldo, I, Mancardi, M M, Negrin, S, Messana, T, Mazzone, L, Valeriani, M, Curatolo, P & Bruni, O 2022, ' Sleep disorders and neuropsychiatric disorders in a pediatric sample of tuberous sclerosis complex : a questionnaire-based study ', Sleep Medicine, vol. 89, pp. 65-70 . https://doi.org/10.1016/j.sleep.2021.11.010
Objective and background: Sleep disorders (SD) are very common in childhood, especially in certain genetic syndromes. Tuberous Sclerosis Complex (TSC) is a genetic syndromesassociated with a high rate of SD, although these are still under-recognized.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07cbd18a475fa8750aa44ac8cf0a8bcf
http://hdl.handle.net/2108/294248
http://hdl.handle.net/2108/294248
Autor:
Agata Fiumara, Roberta Epifanio, Veronica Di Pisa, Chiara Pantaleoni, Patrizia Accorsi, Nicoletta Zanotta, Erica Finardi, Paolo Bonanni, Daniele Grioni, Federico Raviglione, Livia Garavelli, Salvatore Savasta, Emilia Ricci, Francesca Faravelli, Stefano Giuseppe Caraffi, Luigi Tarani, Ivan Ivanovski, Daniela Chiarello, Francesca Rivieri, Isabella Mammi, Anna Fetta, Silvia Bonetti, Antonella Boni, Ada Dormi, Elisa Osanni, Alessia Arena, Duccio Maria Cordelli, Antonino Romeo, Lucio Giordano, Aglaia Vignoli, R. Rizzi, Maria Paola Canevini, Susanna Negrin
Publikováno v:
Epilepsybehavior : EB. 124
Background Epilepsy is a main feature of Mowat Wilson Syndrome (MWS), a congenital malformation syndrome caused by ZEB2 variants. The aim of this study was to investigate the long-term evolution of the electroclinical phenotype of MWS in a large popu
Autor:
Duma Gian Marco, Alberto Danieli, Martina Baggio, Roberto Giorda, Paolo Bonanni, Susanna Negrin
Publikováno v:
Seizure-European Journal of Epilepsy
Seizure-European Journal of Epilepsy, Elsevier, 2021, 93, pp.133-139. ⟨10.1016/j.seizure.2021.10.019⟩
Seizure-European Journal of Epilepsy, Elsevier, 2021, 93, pp.133-139. ⟨10.1016/j.seizure.2021.10.019⟩
AIM To better characterize the clinical phenotype of Poirier-Bienvenu neurodevelopmental syndrome (OMIM ID: 618,732) due to pathogenic variants of the CSNK2B gene. METHOD We reviewed the electro-clinical and developmental data of all 14 patients with
Autor:
Rima Nabbout, Patrick Berquin, Sylvie Odent, Mathieu Kuchenbuch, Gwenaël Le Guyader, Marieke F. van Dooren, Jamel Chelly, Edor Kabashi, Melanie Jennesson, Giulia Barcia, Cyril Mignot, Tayeb Sekhara, Alexandra Afenjar, Marlène Rio, Anne Rolland, Claude Besmond, Andrés Rodríguez-Sacristán Cascajo, Gaetano Terrone, Isabelle Marey, Boris Keren, Alice Goldenberg, A.S. Lebre, Heather C Mefford, Gaetan Lesca, Anne de Saint Martin, Susanna Negrin, Nathalie Dorison, Hélène Maurey, Agnès Guët, David Geneviève, Marie Claire Y. de Wit, Jeremy L. Freeman, Pierre Meyer, Thierry Billette de Villemeur, Ingrid E. Scheffer, Katherine B. Howell, Anca Nica, Raphael Levy, Martino Montomoli, Renzo Guerrini, Elena Parrini, Candace T. Myers, Bertrand Isidor, Alice Poisson, Marion Gérard, Salima El Chehadeh, Lynette G. Sadleir, Julien Durigneux, Pascal Vrielynck, Amy L Schneider, Emmanuel Scalais, Laurence Hubert, Sophie Dupont, Vesna Brankovic, Damien Lederer, Hervé Isnard, Delphine Breuillard, Claire Bar, Alberto Danieli, Diane Doummar, Arnold Munnich
Publikováno v:
Epilepsia
Epilepsia, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Epilepsia, Wiley, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Epilepsia, 61(11), 2461-2473. Wiley-Blackwell Publishing Ltd
Epilepsia, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Epilepsia, Wiley, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩
Epilepsia, 61(11), 2461-2473. Wiley-Blackwell Publishing Ltd
Objective: We aimed to delineate the phenotypic spectrum and long-term outcome of individuals with KCNB1 encephalopathy. Methods: We collected genetic, clinical, electroencephalographic, and imaging data of individuals with KCNB1 pathogenic variants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d3e62c02513d68aa9825d00009bfe7a
https://univ-rennes.hal.science/hal-02959318
https://univ-rennes.hal.science/hal-02959318
Autor:
Martina Da Rold, Franco Fabbro, Susanna Negrin, Anna Serafini, Paolo Bonanni, Lisa Antoniazzi
Publikováno v:
Neurocase. 23(3-4)
In epileptic encephalopathies (EE), interictal epileptiform discharges (IEDs) contribute to cognitive impairment. The EE process has been studied in a patient affected by epilepsy with occipital calcification and celiac disease (CEC syndrome) by comb
Publikováno v:
American journal of medical genetics. Part A. 173(10)
Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic
Autor:
Elisa Osanni, Franco Fabbro, Elisa Petacchi, Paolo Bonanni, Roberta Epifanio, Claudio Zucca, Susanna Negrin, Nicoletta Zanotta, Anna Volzone
Aim Mowat–Wilson Syndrome (MWS) is a genetic rare disease. Epilepsy is present in 70–75% of Patients and an age-dependent electroclinical pattern has been described. Up to date, there are studies with overnight sleep EEGs, probably because of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76cee79fcaa15756ad4af76c10eec7c8
http://hdl.handle.net/11390/1119714
http://hdl.handle.net/11390/1119714
Publikováno v:
CHILD DEVELOPMENT & DISABILITIES - SAGGI. :35-52
Sono discussi i punti cruciali della clinica epilettologica e neuropsicologica delle encefalopatie epilettiche, con l'intento di documentare la relazione complessa e non sempre diretta che intercorre tra questi due livelli di osservazione in particol
Publikováno v:
CHILD DEVELOPMENT & DISABILITIES - SAGGI. :53-78
Ad un gruppo di 14 pazienti affetti da Epilessia Frontale Notturna (EFN) con etŕ compresa tra etŕ 3.8 e 17.2 anni č stato effettuato un assessment neuropsicologico durante videomonitoraggio EEG prolungato. L'anamnesi psicologica mette in evidenza