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Page 1
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: specchio n. 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.
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, Moreira A, Pisano T, Specchio N, Vigevano F, Battaglia D, Guerrini R. Marini C, et al. Among authors: specchio n. Neurology. 2010 Aug 17;75(7):646-53. doi: 10.1212/WNL.0b013e3181ed9e67. Neurology. 2010. PMID: 20713952
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
Marini C, Darra F, Specchio N, Mei D, Terracciano A, Parmeggiani L, Ferrari A, Sicca F, Mastrangelo M, Spaccini L, Canopoli ML, Cesaroni E, Zamponi N, Caffi L, Ricciardelli P, Grosso S, Pisano T, Canevini MP, Granata T, Accorsi P, Battaglia D, Cusmai R, Vigevano F, Dalla Bernardina B, Guerrini R. Marini C, et al. Among authors: specchio n. Epilepsia. 2012 Dec;53(12):2111-9. doi: 10.1111/j.1528-1167.2012.03649.x. Epub 2012 Sep 4. Epilepsia. 2012. PMID: 22946748 Free article.
Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies-An Italian observational multicenter study.
De Liso P, Vigevano F, Specchio N, De Palma L, Bonanni P, Osanni E, Coppola G, Parisi P, Grosso S, Verrotti A, Spalice A, Nicita F, Zamponi N, Siliquini S, Giordano L, Martelli P, Guerrini R, Rosati A, Ilvento L, Belcastro V, Striano P, Vari MS, Capovilla G, Beccaria F, Bruni O, Luchetti A, Gobbi G, Russo A, Pruna D, Tozzi AE, Cusmai R. De Liso P, et al. Among authors: specchio n. Epilepsy Res. 2016 Nov;127:93-100. doi: 10.1016/j.eplepsyres.2016.08.021. Epub 2016 Aug 18. Epilepsy Res. 2016. PMID: 27568598
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.
Cetica V, Chiari S, Mei D, Parrini E, Grisotto L, Marini C, Pucatti D, Ferrari A, Sicca F, Specchio N, Trivisano M, Battaglia D, Contaldo I, Zamponi N, Petrelli C, Granata T, Ragona F, Avanzini G, Guerrini R. Cetica V, et al. Among authors: specchio n. Neurology. 2017 Mar 14;88(11):1037-1044. doi: 10.1212/WNL.0000000000003716. Epub 2017 Feb 15. Neurology. 2017. PMID: 28202706 Free PMC article.
Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study.
Barba C, Specchio N, Guerrini R, Tassi L, De Masi S, Cardinale F, Pellacani S, De Palma L, Battaglia D, Tamburrini G, Didato G, Freri E, Consales A, Nozza P, Zamponi N, Cesaroni E, Di Gennaro G, Esposito V, Giulioni M, Tinuper P, Colicchio G, Rocchi R, Rubboli G, Giordano F, Lo Russo G, Marras CE, Cossu M. Barba C, et al. Among authors: specchio n. Epilepsy Behav. 2017 Oct;75:151-157. doi: 10.1016/j.yebeh.2017.08.010. Epub 2017 Sep 15. Epilepsy Behav. 2017. PMID: 28866334
Corrigendum to "Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study" [Epilepsy Behav. Oct 2017; 75C:151-157].
Barba C, Specchio N, Guerrini R, Tassi L, DeMasi S, Cardinale F, Pellacani S, De Palma L, Battaglia D, Tamburrini G, Didato G, Freri E, Consales A, Nozza P, Zamponi N, Cesaroni E, Di Gennaro G, Esposito V, Giulioni M, Tinuper P, Colicchio G, Rocchi R, Rubboli G, Giordano F, Russo GL, Marras CE, Cossu M. Barba C, et al. Among authors: specchio n. Epilepsy Behav. 2018 Mar;80:380. doi: 10.1016/j.yebeh.2018.02.021. Epilepsy Behav. 2018. PMID: 29525723 No abstract available.
242 results