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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: orsini a. Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10. Epilepsia. 2019. PMID: 30968951
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: orsini 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
Maternally derived 15q11.2-q13.1 duplication in a child with Lennox-Gastaut-type epilepsy and dysmorphic features: Clinical-genetic characterization of the family and review of the literature.
Bonuccelli A, Valetto A, Orsini A, Michelucci A, Ferrari AR, Elia M, Bertini V. Bonuccelli A, et al. Among authors: orsini a. Am J Med Genet A. 2017 Feb;173(2):556-560. doi: 10.1002/ajmg.a.38039. Epub 2016 Nov 14. Am J Med Genet A. 2017. PMID: 27862928 No abstract available.
Recent advances in epilepsy genetics.
Orsini A, Zara F, Striano P. Orsini A, et al. Neurosci Lett. 2018 Feb 22;667:4-9. doi: 10.1016/j.neulet.2017.05.014. Epub 2017 May 10. Neurosci Lett. 2018. PMID: 28499889 Review.
Medical management for neurosurgical related seizures.
Ambrosi M, Orsini A, Verrotti A, Striano P. Ambrosi M, et al. Among authors: orsini a. Expert Opin Pharmacother. 2017 Oct;18(14):1491-1498. doi: 10.1080/14656566.2017.1373092. Epub 2017 Sep 1. Expert Opin Pharmacother. 2017. PMID: 28847180 Review.
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: orsini 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.
536 results