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Page 1
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants.
Malerba F, Alberini G, Balagura G, Marchese F, Amadori E, Riva A, Vari MS, Gennaro E, Madia F, Salpietro V, Angriman M, Giordano L, Accorsi P, Trivisano M, Specchio N, Russo A, Gobbi G, Raviglione F, Pisano T, Marini C, Mancardi MM, Nobili L, Freri E, Castellotti B, Capovilla G, Coppola A, Verrotti A, Martelli P, Miceli F, Maragliano L, Benfenati F, Cilio MR, Johannesen KM, Møller RS, Ceulemans B, Minetti C, Weckhuysen S, Zara F, Taglialatela M, Striano P. Malerba F, et al. Among authors: verrotti a. Neurol Genet. 2020 Nov 30;6(6):e528. doi: 10.1212/NXG.0000000000000528. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33659638 Free PMC article.
Glut1 deficiency: when to suspect and how to diagnose?
Verrotti A, D'Egidio C, Agostinelli S, Gobbi G. Verrotti A, et al. Eur J Paediatr Neurol. 2012 Jan;16(1):3-9. doi: 10.1016/j.ejpn.2011.09.005. Epub 2011 Oct 1. Eur J Paediatr Neurol. 2012. PMID: 21962875 Review.
Seizures and EEG patterns in Pallister-Killian syndrome: 13 new Italian patients.
Giordano L, Viri M, Borgatti R, Lodi M, Accorsi P, Faravelli F, Ferretti MC, Grasso R, Memo L, Prola S, Pruna D, Santucci M, Savasta S, Verrotti A, Romeo A. Giordano L, et al. Among authors: verrotti a. Eur J Paediatr Neurol. 2012 Nov;16(6):636-41. doi: 10.1016/j.ejpn.2012.03.003. Epub 2012 Mar 29. Eur J Paediatr Neurol. 2012. PMID: 22464827
Reflex myoclonic epilepsy in infancy: a multicenter clinical study.
Verrotti A, Matricardi S, Capovilla G, D'Egidio C, Cusmai R, Romeo A, Pruna D, Pavone P, Cappanera S, Granata T, Gobbi G, Striano P, Grosso S, Parisi P, Franzoni E, Striano S, Spalice A, Marino R, Vigevano F, Coppola G. Verrotti A, et al. Epilepsy Res. 2013 Feb;103(2-3):237-44. doi: 10.1016/j.eplepsyres.2012.07.004. Epub 2012 Jul 20. Epilepsy Res. 2013. PMID: 22819072
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution.
Agostinelli S, Traverso M, Accorsi P, Beccaria F, Belcastro V, Capovilla G, Cappanera S, Coppola A, Dalla Bernardina B, Darra F, Ferretti M, Elia M, Galeone D, Giordano L, Gobbi G, Nicita F, Parisi P, Pezzella M, Spalice A, Striano S, Tozzi E, Vignoli A, Minetti C, Zara F, Striano P, Verrotti A. Agostinelli S, et al. Among authors: verrotti a. Eur J Neurol. 2013 May;20(5):856-9. doi: 10.1111/j.1468-1331.2012.03871.x. Epub 2012 Sep 30. Eur J Neurol. 2013. PMID: 23020086 Free article.
702 results