BALESTRINI, SIMONA

BALESTRINI, SIMONA  

Neuroscienze, Psicologia, Area del Farmaco e Salute del Bambino (NEUROFARBA)  

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A registry for Dravet syndrome: The Italian experience 2023 Simona Balestrini , Viola Doccini , Sabrina Giometto , Ersilia Lucenteforte , Salvatore De Masi , Elisa Giarola , Isabella Brambilla , Federica Pieroni , Marco Perulli , Domenica Battaglia , Nicola Specchio , Francesca Ragona , Tiziana Granata , Simona Pellacani , Annarita Ferrari , Carla Marini , Sara Matricardi , Elisabetta Cesaroni , Lucio Giordano , Patrizia Accorsi , Vittorio Sciruicchio , Paolo Tinuper , Tullio Messana , Angelo Russo , Dario Pruna , Margherita Nosadini , Valentina De Giorgis , Davide Caputo ; Residras Collaboration Group; Serena Pellegrin , Tommaso Lo Barco , Francesca Darra , Bernardo Dalla Bernardina, Renzo Guerrini
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 2023 Anne-Sophie Denommé-Pichon 1, Leslie Matalonga 2, Elke de Boer 3, Adam Jackson 4, Elisa Benetti 5, Siddharth Banka 4, Ange-Line Bruel 6, Andrea Ciolfi 7, Jill Clayton-Smith 4, Bruno Dallapiccola 7, Yannis Duffourd 6, Kornelia Ellwanger 8, Chiara Fallerini 9, Christian Gilissen 10, Holm Graessner 8, Tobias B Haack 8, Marketa Havlovicova 11, Alexander Hoischen 12, Nolwenn Jean-Marçais 13, Tjitske Kleefstra 14, Estrella López-Martín 15, Milan Macek 11, Maria Antonietta Mencarelli 16, Sébastien Moutton 17, Rolph Pfundt 3, Simone Pizzi 7, Manuel Posada 15, Francesca Clementina Radio 7, Alessandra Renieri 18, Caroline Rooryck 19, Lukas Ryba 11, Hana Safraou 6, Martin Schwarz 11, Marco Tartaglia 7, Christel Thauvin-Robinet 20, Julien Thevenon 17, Frédéric Tran Mau-Them 6, Aurélien Trimouille 21, Pavel Votypka 11, Bert B A de Vries 3, Marjolein H Willemsen 3, Birte Zurek 8, Alain Verloes 22, Christophe Philippe 6; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Antonio Vitobello 6, Lisenka E L M Vissers 3, Laurence Faivre 23, Simona Balestrini, Renzo Guerrini
Alternating hemiplegia of childhood: An electroclinical study of sleep and hemiplegia 2022 Poole, Josephine; Zagaglia, Sara; Demurtas, Rita; Farrell, Fiona; Walker, Matthew C; Sisodiya, Sanjay M; Balestrini, Simona; Vivekananda, Umesh
Ammonia: What adult neurologists need to know 2021 Meijer R.; Vivekananda U.; Balestrini S.; Walker M.; Lachmann R.; Haeberle J.; Murphy E.
AN APPARENT SYMPTOMATIC FOCAL EPILEPSY IN A PATIENT WITH MALIGNANT INSULINOMA ASSOCIATED TO GLUCAGONOMA 2011 Balestrini S; Foschi N; Arnaldi G; Bearzi I; Provinciali L
ANALYSIS OF FACIAL ASYMMETRY AND DYSMORPHISM IN EPILEPSY 2017 Balestrini S; Chinthapalli K; Suttie M; Hammond P; Sisodiya S
Applying a perceptions and practicalities approach to understanding nonadherence to antiepileptic drugs 2015 Chapman SCE; Horne R; Eade R; Balestrini S; Rush J; Sisodiya SM
Audit of use of stiripentol in adults with Dravet syndrome 2017 Balestrini S; Sisodiya SM
Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene 2024 Parrini E.; Balestrini S.; Rutigliano D.; Ricci M.; Mei D.; Guerrini R.
Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants 2023 Panza, Norman; Bianchini, Claudia; Cetica, Valentina; Balestrini, Simona; Barba, Carmen; Ferrari, Anna Rita; Mei, Davide; Parmeggiani, Lucio; Parrini, Elena; Guerrini, Renzo
BURDEN OF UNCONTROLLED EPILEPSY IN PATIENTS REQUIRING AN EMERGENCY ROOM VISIT OR HOSPITALIZATION 2013 Balestrini S; Provinciali L
Cardiac Phenotype In ATP1A3 Related-Syndromes: A Multicentre Study 2019 Balestrini, S; Mikati, M; Garcia-Roves, RA; Carboni, M; Hunanyan, A; Kherallah, B; McLean, M; Prange, L; De Grandis, E; Gagliardi, A; Pisciotta, L; Stagnaro, M; Veneselli, E; Campistol, J; Fons, C; Brashear, A; Miller, C; Samoes, R; Brankovic, V; Padiath, Q; Potic, A; Pilch, J; Vezyroglou, K; Hollingsworth, G; Scheffer, I; Granata, T; Nardocci, N; Ragona, F; Arzimanoglou, A; Panagiotakaki, E; Carrilho, I; Zucca, C; Novy, J; Dziezyc, K; Parowicz, M; Mazurkiewicz-Beldzinska, M; Weckhuysen, S; Pons, R; Groppa, S; Sinden, DS; Pitt, G; Tinker, A; Ashworth, M; Michalak, Z; Thom, M; Cross, JH; Vavassori, R; Kaski, JP; Sisodiya, SM
Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study 2020 Balestrini S.; Mikati M.A.; Alvarez-Garcia-Roves R.; Carboni M.; Hunanyan A.S.; Kherallah B.; McLean M.; Prange L.; De Grandis E.; Gagliardi A.; Pisciotta L.; Stagnaro M.; Veneselli E.; Campistol J.; Fons C.; Pias-Peleteiro L.; Brashear A.; Miller C.; Samoes R.; Brankovic V.; Padiath Q.S.; Potic A.; Pilch J.; Vezyroglou A.; Bye A.M.E.; Davis A.M.; Ryan M.M.; Semsarian C.; Hollingsworth G.; Scheffer I.E.; Granata T.; Nardocci N.; Ragona F.; Arzimanoglou A.; Panagiotakaki E.; Carrilho I.; Zucca C.; Novy J.; Dziezyc K.; Parowicz M.; Mazurkiewicz-Beldzinska M.; Weckhuysen S.; Pons R.; Groppa S.; Sinden D.S.; Pitt G.S.; Tinker A.; Ashworth M.; Michalak Z.; Thom M.; Cross J.H.; Vavassori R.; Kaski J.P.; Sisodiya S.M.
Case report: Dravet syndrome, feeding difficulties and gastrostomy 2022 Clayton, Lisa M; Williams, Edwina; Balestrini, Simona; Sisodiya, Sanjay M
Cerebellar, limbic, and midbrain volume alterations in sudden unexpected death in epilepsy 2019 Allen LA; Vos SB; Kumar R; Ogren JA; Harper RK; Winston GP; Balestrini S; Wandschneider B; Scott CA; Ourselin S; Duncan JS; Lhatoo SD; Harper RM; Diehl B
Climate change and epilepsy: Insights from clinical and basic science studies 2021 Gulcebi, Medine, I; Bartolini, Emanuele; Lee, Omay; Lisgaras, Christos Panagiotis; Onat, Filiz; Mifsud, Janet; Striano, Pasquale; Vezzani, Annamaria; Hildebrand, Michael S.; Jimenez-Jimenez, Diego; Junck, Larry; Lewis-Smith, David; Scheffer, Ingrid E.; Thijs, Roland D.; Zuberi, Sameer M.; Blenkinsop, Stephen; Fowler, Hayley J.; Foley, Aideen; Sisodiya, Sanjay M.; Balestrini, Simona; Berkovic, Samuel; Cavalleri, Gianpiero; Correa, Daniel Jose; Custodio, Helena Martins; Galovic, Marian; Guerrini, Renzo; Henshall, David; Howard, Olga; Hughes, Kelvin; Katsarou, Anna; Koeleman, Bobby P. C.; Krause, Roland; Lowenstein, Daniel; Mandelenaki, Despoina; Marini, Carla; O'Brien, Terence J.; Pace, Adrian; De Palma, Luca; Perucca, Piero; Pitkanen, Asla; Quinn, Finola; Selmer, Kaja Kristine; Steward, Charles A.; Swanborough, Nicola; Thijs, Roland; Tittensor, Phil; Trivisano, Marina; Weckhuysen, Sarah; Zara, Federico
Clinical and neurophysiological characterisation of ictal and sleep pattern in alternating hemiplegia of childhood 2021 Poole, J; Zagaglia, S; Farrell, F; Walker, MC; Sisodiya, S; Vivekananda, U; Balestrini, S
CLINICAL FEATURES OF POST-ICTAL PSYCHOSIS: AN OBSERVATIONAL DESCRIPTIVE STUDY 2017 Braatz V; Balestrini S; Sander JW; Sisodiya S
Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy 2021 Balestrini S.; Koepp M.J.; Gandhi S.; Rickman H.M.; Shin G.Y.; Houlihan C.F.; Anders-Cannon J.; Silvennoinen K.; Xiao F.; Zagaglia S.; Hudgell K.; Ziomek M.; Haimes P.; Sampson A.; Parker A.; Helen Cross J.; Pardington R.; Nastouli E.; Swanton C.; Aitken J.; Allen Z.; Ambler R.; Ambrose K.; Ashton E.; Avola A.; Balakrishnan S.; Barns-Jenkins C.; Barr G.; Barrell S.; Basu S.; Beale R.; Beesley C.; Bhardwaj N.; Bibi S.; Bineva-Todd G.; Biswas D.; Blackman M.J.; Bonnet D.; Bowker F.; Broncel M.; Brooks C.; Buck M.D.; Buckton A.; Budd T.; Burrell A.; Busby L.; Bussi C.; Butterworth S.; Byott M.; Byrne F.; Byrne R.; Caidan S.; Campbell J.; Canton J.; Cardoso A.; Carter N.; Carvalho L.; Carzaniga R.; Chandler N.; Chen Q.; Cherepanov P.; Churchward L.; Clark G.; Clayton B.; Cobolli Gigli C.; Collins Z.; Cottrell S.; Crawford M.; Cubitt L.; Cullup T.; Davies H.; Davis P.; Davison D.; Dearing V.; Debaisieux S.; Diaz-Romero M.; Dibbs A.; Diring J.; Driscoll P.C.; D'Avola A.; Earl C.; Edwards A.; Ekin C.; Evangelopoulos D.; Faraway R.; Fearns A.; Ferron A.; Fidanis E.; Fitz D.; Fleming J.; Frampton D.; Frederico B.; Gaiba A.; Gait A.; Gamblin S.; Gartner K.; Gaul L.; Golding H.M.; Goldman J.; Goldstone R.; Gomez Dominguez B.; Gong H.; Grant P.R.; Greco M.; Grobler M.; Guedan A.; Gutierrez M.G.; Hackett F.; Hall R.; Halldorsson S.; Harris S.; Hashim S.; Hatipoglu E.; Healy L.; Heaney J.; Herbst S.; Hewitt G.; Higgins T.; Hindmarsh S.; Hirani R.; Hope J.; Horton E.; Hoskins B.; Howell M.; Howitt L.; Hoyle J.; Htun M.R.; Hubank M.; Huerga Encabo H.; Hughes D.; Hughes J.; Huseynova A.; Hwang M.-S.; Instrell R.; Jackson D.; Jamal-Hanjani M.; Jenkins L.; Jiang M.; Johnson M.; Jones L.; Kanu N.; Kassiotis G.; Kelly G.; Kiely L.; Teixeira A.K.S.; Kirk S.; Kjaer S.; Knuepfer E.; Komarov N.; Kotzampaltiris P.; Kousis K.; Krylova T.; Kucharska A.; Labrum R.; Lambe C.; Lappin M.; Lee S.-A.; Levett A.; Levett L.; Levi M.; Liu H.W.; Loughlin S.; Lu W.-T.; MacRae J.I.; Madoo A.; Marczak J.A.; Martensson M.; Martinez T.; Marzook B.; Matthews J.; Matz J.M.; McCall S.; McCoy L.E.; McKay F.; McNamara E.C.; Minutti C.M.; Mistry G.; Molina-Arcas M.; Montaner B.; Montgomery K.; Moore C.; Moore D.; Moraiti A.; Moreira-Teixeira L.; Mukherjee J.; Naceur-Lombardelli C.; Nelson A.; Nicod J.; Nightingale L.; Nofal S.; Nurse P.; Nutan S.; Oedekoven C.; O'Garra A.; O'Leary J.D.; Olsen J.; O'Neill O.; O'Reilly N.; Suarez P.O.; Osborne N.; Pabari A.; Pajak A.; Papayannopoulos V.; Paraskevopoulou S.M.; Patel N.; Patel Y.; Paun O.; Peat N.; Peces-Barba Castano L.; Caballero A.P.; Perez-Lloret J.; Perrault M.S.; Perrin A.; Poh R.; Poirier E.Z.; Polke J.M.; Pollitt M.; Prieto-Godino L.; Proust A.; Puvirajasinghe C.; Queval C.; Ramachandran V.; Ramaprasad A.; Ratcliffe P.; Reed L.; Reis e Sousa C.; Richardson K.; Ridewood S.; Roberts F.; Roberts R.; Rodgers A.; Romero Clavijo P.; Rosa A.; Rossi A.; Roustan C.; Rowan A.; Sahai E.; Sait A.; Sala K.; Sanchez E.; Sanderson T.; Santucci P.; Sardar F.; Sateriale A.; Saunders J.A.; Sawyer C.; Schlott A.; Schweighoffer E.; Segura-Bayona S.; Shah Punatar R.; Shahmanesh M.; Shaw J.; Silva Dos Santos M.; Silvestre M.; Singer M.; Snell D.M.; Song O.-R.; Spyer M.J.; Steel L.; Strange A.; Sullivan A.E.; Tan M.S.Y.; Tautz-Davis Z.H.; Taylor E.; Taylor G.; Taylor H.B.; Taylor-Beadling A.; Teixeira Subtil F.; Terre Torras B.; Toolan-Kerr P.; Torelli F.; Toteva T.; Treeck M.; Trojer H.; Tsai M.-H.C.; Turner J.M.A.; Turner M.; Ule J.; Ulferts R.; Vanloo S.P.; Veeriah S.; Venkatesan S.; Vousden K.; Wack A.; Walder C.; Walker P.A.; Wang Y.; Ward S.; Wenman C.; Williams L.; Williams M.J.; Keong Wong W.; Wright J.; Wu M.; Wynne L.; Xiang Z.; Yap M.; Zagalak J.A.; Zecchin D.; Zillwood R.; Sander J.W.; Sisodiya S.M.; Carthiyaniamma S.; DeTisi J.; Dick J.; Hill A.; Kipper K.; Kullar B.; Norris S.; Rugg-Gunn F.; Salvatierra R.; Shaya G.; Sloan A.; Singh P.; Varley J.; Whatley B.
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies 2017 Masnada S; Hedrich UBS; Gardella E; Schubert J; Kaiwar C; Klee EW; Lanpher BC; Gavrilova RH; Synofzik M; Bast T; Gorman K; King MD; Allen NM; Conroy J; Ben Zeev B; Tzadok M; Korff C; Dubois F; Ramsey K; Narayanan V; Serratosa JM; Giraldez BG; Helbig I; Marsh E; O'Brien M; Bergqvist CA; Binelli A; Porter B; Zaeyen E; Horovitz DD; Wolff M; Marjanovic D; Caglayan HS; Arslan M; Pena SDJ; Sisodiya SM; Balestrini S; Syrbe S; Veggiotti P; Lemke JR; Moller RS; Lerche H; Rubboli G