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Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Raviglione F, Douzgou S, Scala M, Mingarelli A, D'Arrigo S, Freri E, Darra F, Giglio S, Bonaglia MC, Pantaleoni C, Mastrangelo M, Epifanio R, Elia M, Saletti V, Morlino S, Vari MS, De Liso P, Pavaine J, Spaccini L, Cattaneo E, Gardella E, Møller RS, Marchese F, Colonna C, Gandioli C, Gobbi G, Ram D, Palumbo O, Carella M, Germano M, Tonduti D, De Angelis D, Caputo D, Bergonzini P, Novara F, Zuffardi O, Verrotti A, Orsini A, Bonuccelli A, De Muto MC, Trivisano M, Vigevano F, Granata T, Bernardina BD, Tranchina A, Striano P. Raviglione F, et al. Among authors: bonuccelli a. Seizure. 2021 May;88:60-72. doi: 10.1016/j.seizure.2021.03.025. Epub 2021 Mar 30. Seizure. 2021. PMID: 33831796 Free article.
Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.
Taddeucci G, Bonuccelli A, Mantellassi I, Orsini A, Tarantino E. Taddeucci G, et al. Among authors: bonuccelli a. Ital J Pediatr. 2010 Feb 2;36:12. doi: 10.1186/1824-7288-36-12. Ital J Pediatr. 2010. PMID: 20205897 Free PMC article.
Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
Valetto A, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G. Valetto A, et al. Among authors: bonuccelli a. Eur J Med Genet. 2012 May;55(5):362-6. doi: 10.1016/j.ejmg.2012.03.011. Epub 2012 Apr 24. Eur J Med Genet. 2012. PMID: 22548977
A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotype?
Bertini V, Valetto A, Azzarà A, Legitimo A, Saggese G, Consolini R, Orsini A, Bonuccelli A. Bertini V, et al. Among authors: bonuccelli a. Front Pediatr. 2017 Mar 21;5:48. doi: 10.3389/fped.2017.00048. eCollection 2017. Front Pediatr. 2017. PMID: 28377914 Free PMC article.
Mothers and fathers of children with epilepsy: gender differences in post-traumatic stress symptoms and correlations with mood spectrum symptoms.
Carmassi C, Corsi M, Bertelloni CA, Carpita B, Gesi C, Pedrinelli V, Massimetti G, Peroni DG, Bonuccelli A, Orsini A, Dell'Osso L. Carmassi C, et al. Among authors: bonuccelli a. Neuropsychiatr Dis Treat. 2018 May 25;14:1371-1379. doi: 10.2147/NDT.S158249. eCollection 2018. Neuropsychiatr Dis Treat. 2018. PMID: 29872304 Free PMC article.
The spectrum of intermediate SCN8A-related epilepsy.
Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS. Johannesen KM, et al. Among authors: bonuccelli a. Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10. Epilepsia. 2019. PMID: 30968951
60 results