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591 results

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Page 1
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients.
Balagura G, Riva A, Marchese F, Iacomino M, Madia F, Giacomini T, Mancardi MM, Amadori E, Vari MS, Salpietro V, Russo A, Messana T, Vignoli A, Chiesa V, Giordano L, Accorsi P, Caffi L, Orsini A, Bonuccelli A, Santucci M, Vecchi M, Vanadia F, Milito G, Fusco C, Cricchiutti G, Carpentieri M, Margari L, Spalice A, Beccaria F, Benfenati F, Zara F, Striano P. Balagura G, et al. Among authors: vecchi m. Eur J Paediatr Neurol. 2020 Sep;28:193-197. doi: 10.1016/j.ejpn.2020.06.005. Epub 2020 Jun 23. Eur J Paediatr Neurol. 2020. PMID: 32651081
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
Mancardi MM, Striano P, Gennaro E, Madia F, Paravidino R, Scapolan S, Dalla Bernardina B, Bertini E, Bianchi A, Capovilla G, Darra F, Elia M, Freri E, Gobbi G, Granata T, Guerrini R, Pantaleoni C, Parmeggiani A, Romeo A, Santucci M, Vecchi M, Veggiotti P, Vigevano F, Pistorio A, Gaggero R, Zara F. Mancardi MM, et al. Among authors: vecchi m. Epilepsia. 2006 Oct;47(10):1629-35. doi: 10.1111/j.1528-1167.2006.00641.x. Epilepsia. 2006. PMID: 17054684 Free article.
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglialatela M, Coviello DA, Vigevano F, Minetti C. Zara F, et al. Among authors: vecchi m. Epilepsia. 2013 Mar;54(3):425-36. doi: 10.1111/epi.12089. Epub 2013 Jan 29. Epilepsia. 2013. PMID: 23360469 Free article.
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.
Falsaperla R, Vari MS, Toldo I, Murgia A, Sartori S, Vecchi M, Suppiej A, Burlina A, Mastrangelo M, Leuzzi V, Marchiani V, De Liso P, Capovilla G, Striano P, Vitaliti G; Italian Society of Pediatric Neurology (SINP: Società Italiana di Neurologia Pediatrica). Falsaperla R, et al. Among authors: vecchi m. Metab Brain Dis. 2018 Feb;33(1):261-269. doi: 10.1007/s11011-017-0150-x. Epub 2017 Nov 25. Metab Brain Dis. 2018. PMID: 29178011
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.
Trivisano M, Pietrafusa N, Terracciano A, Marini C, Mei D, Darra F, Accorsi P, Battaglia D, Caffi L, Canevini MP, Cappelletti S, Cesaroni E, de Palma L, Costa P, Cusmai R, Giordano L, Ferrari A, Freri E, Fusco L, Granata T, Martino T, Mastrangelo M, Bova SM, Parmeggiani L, Ragona F, Sicca F, Striano P, Specchio LM, Tondo I, Zambrelli E, Zamponi N, Zanus C, Boniver C, Vecchi M, Avolio C, Dalla Bernardina B, Bertini E, Guerrini R, Vigevano F, Specchio N. Trivisano M, et al. Among authors: vecchi m. Epilepsia. 2018 Dec;59(12):2260-2271. doi: 10.1111/epi.14600. Epub 2018 Nov 19. Epilepsia. 2018. PMID: 30451291
The spectrum of intermediate SCN8A-related epilepsy.
Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS. Johannesen KM, et al. Among authors: vecchi m. Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10. Epilepsia. 2019. PMID: 30968951
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.
Striano P, Lispi ML, Gennaro E, Madia F, Traverso M, Bordo L, Aridon P, Martinelli Boneschi F, Barone B, dalla Bernardina B, Bianchi A, Capovilla G, De Marco P, Dulac O, Gaggero R, Gambardella A, Nabbout R, Prud'homme JF, Day R, Vanadia F, Vecchi M, Veggiotti P, Vigevano F, Viri M, Minetti C, Zara F. Striano P, et al. Among authors: vecchi m. Epilepsia. 2006 Jun;47(6):1029-34. doi: 10.1111/j.1528-1167.2006.00521.x. Epilepsia. 2006. PMID: 16822249 Free article.
Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.
Sartori S, Polli R, Bettella E, Rossato S, Andreoli W, Vecchi M, Giordano L, Accorsi P, Di Rosa G, Toldo I, Zamponi N, Darra F, Dalla Bernardina B, Perilongo G, Boniver C, Murgia A. Sartori S, et al. Among authors: vecchi m. J Child Neurol. 2011 Jun;26(6):683-91. doi: 10.1177/0883073810387827. Epub 2011 Apr 11. J Child Neurol. 2011. PMID: 21482751
An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy.
Striano P, Coppola A, Pezzella M, Ciampa C, Specchio N, Ragona F, Mancardi MM, Gennaro E, Beccaria F, Capovilla G, Rasmini P, Besana D, Coppola GG, Elia M, Granata T, Vecchi M, Vigevano F, Viri M, Gaggero R, Striano S, Zara F. Striano P, et al. Among authors: vecchi m. Neurology. 2007 Jul 17;69(3):250-4. doi: 10.1212/01.wnl.0000265222.24102.db. Neurology. 2007. PMID: 17636062 Clinical Trial.
591 results