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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: cilio mr. Neurol Genet. 2020 Nov 30;6(6):e528. doi: 10.1212/NXG.0000000000000528. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33659638 Free PMC article.
Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.
Soldovieri MV, Cilio MR, Miceli F, Bellini G, Miraglia del Giudice E, Castaldo P, Hernandez CC, Shapiro MS, Pascotto A, Annunziato L, Taglialatela M. Soldovieri MV, et al. Among authors: cilio mr. J Neurosci. 2007 May 2;27(18):4919-28. doi: 10.1523/JNEUROSCI.0580-07.2007. J Neurosci. 2007. PMID: 17475800 Free PMC article.
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. Marini C, et al. Among authors: cilio mr. Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12. Epilepsia. 2009. PMID: 19400878 Free article.
Efficacy of levetiracetam in the treatment of drug-resistant Rett syndrome.
Specchio N, Balestri M, Striano P, Cilio MR, Nardello R, Patanè S, Margiotta ML, D'Orsi G, Striano S, Russo S, Specchio LM, Cusmai R, Fusco L, Vigevano F. Specchio N, et al. Among authors: cilio mr. Epilepsy Res. 2010 Feb;88(2-3):112-7. doi: 10.1016/j.eplepsyres.2009.10.005. Epub 2009 Nov 14. Epilepsy Res. 2010. PMID: 19914805
Childhood refractory focal epilepsy following acute febrile encephalopathy.
Specchio N, Fusco L, Claps D, Trivisano M, Longo D, Cilio MR, Valeriani M, Cusmai R, Cappelletti S, Gentile S, Fariello G, Specchio LM, Vigevano F. Specchio N, et al. Among authors: cilio mr. Eur J Neurol. 2011 Jul;18(7):952-61. doi: 10.1111/j.1468-1331.2010.03253.x. Epub 2010 Nov 18. Eur J Neurol. 2011. PMID: 21087361
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