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The phenotype of SCN8A developmental and epileptic encephalopathy.
Gardella E, Marini C, Trivisano M, Fitzgerald MP, Alber M, Howell KB, Darra F, Siliquini S, Bölsterli BK, Masnada S, Pichiecchio A, Johannesen KM, Jepsen B, Fontana E, Anibaldi G, Russo S, Cogliati F, Montomoli M, Specchio N, Rubboli G, Veggiotti P, Beniczky S, Wolff M, Helbig I, Vigevano F, Scheffer IE, Guerrini R, Møller RS. Gardella E, et al. Among authors: fontana e. Neurology. 2018 Sep 18;91(12):e1112-e1124. doi: 10.1212/WNL.0000000000006199. Epub 2018 Aug 31. Neurology. 2018. PMID: 30171078 Free article.
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, Capovilla G, Chiron C, Cristofori G, Elia M, Fontana E, Gaggero R, Granata T, Guerrini R, Loi M, La Selva L, Lispi ML, Matricardi A, Romeo A, Tzolas V, Valseriati D, Veggiotti P, Vigevano F, Vallée L, Dagna Bricarelli F, Bianchi A, Zara F. Nabbout R, et al. Among authors: fontana e. Neurology. 2003 Jun 24;60(12):1961-7. doi: 10.1212/01.wnl.0000069463.41870.2f. Neurology. 2003. PMID: 12821740
Myoclonic status in nonprogressive encephalopathies.
Dalla Bernardina B, Fontana E, Darra F. Dalla Bernardina B, et al. Among authors: fontana e. Adv Neurol. 2005;95:59-70. Adv Neurol. 2005. PMID: 15508914 Review. No abstract available.
Electroclinical findings in four patients with karyotype 47,XYY.
Torniero C, Bernardina BD, Fontana E, Darra F, Danesino C, Elia M. Torniero C, et al. Among authors: fontana e. Brain Dev. 2011 May;33(5):384-9. doi: 10.1016/j.braindev.2010.07.010. Epub 2010 Sep 16. Brain Dev. 2011. PMID: 20817432
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.
Ragona F, Granata T, Dalla Bernardina B, Offredi F, Darra F, Battaglia D, Morbi M, Brazzo D, Cappelletti S, Chieffo D, De Giorgi I, Fontana E, Freri E, Marini C, Toraldo A, Specchio N, Veggiotti P, Vigevano F, Guerrini R, Guzzetta F, Dravet C. Ragona F, et al. Among authors: fontana e. Epilepsia. 2011 Feb;52(2):386-92. doi: 10.1111/j.1528-1167.2010.02925.x. Epub 2011 Jan 26. Epilepsia. 2011. PMID: 21269283 Free article.
323 results