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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: cogliati f. Neurology. 2018 Sep 18;91(12):e1112-e1124. doi: 10.1212/WNL.0000000000006199. Epub 2018 Aug 31. Neurology. 2018. PMID: 30171078 Free article.
Epilepsy in Rett syndrome: clinical and genetic features.
Pintaudi M, Calevo MG, Vignoli A, Parodi E, Aiello F, Baglietto MG, Hayek Y, Buoni S, Renieri A, Russo S, Cogliati F, Giordano L, Canevini M, Veneselli E. Pintaudi M, et al. Among authors: cogliati f. Epilepsy Behav. 2010 Nov;19(3):296-300. doi: 10.1016/j.yebeh.2010.06.051. Epub 2010 Aug 21. Epilepsy Behav. 2010. PMID: 20728410 Free article.
Medical care of adolescents and women with Rett syndrome: an Italian study.
Vignoli A, La Briola F, Peron A, Turner K, Savini M, Cogliati F, Russo S, Canevini MP. Vignoli A, et al. Among authors: cogliati f. Am J Med Genet A. 2012 Jan;158A(1):13-8. doi: 10.1002/ajmg.a.34367. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22139899 Free article.
Think about it: FMR1 gene mosaicism.
Bonarrigo FA, Russo S, Vizziello P, Menni F, Cogliati F, Giorgini V, Monti F, Milani D. Bonarrigo FA, et al. Among authors: cogliati f. J Child Neurol. 2014 Sep;29(9):NP74-7. doi: 10.1177/0883073813503187. Epub 2013 Sep 23. J Child Neurol. 2014. PMID: 24065579
33 results