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845 results

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Page 1
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, Capovilla G, Chiron C, Cristofori G, Elia M, Fontana E, Gaggero R, Granata T, Guerrini R, Loi M, La Selva L, Lispi ML, Matricardi A, Romeo A, Tzolas V, Valseriati D, Veggiotti P, Vigevano F, Vallée L, Dagna Bricarelli F, Bianchi A, Zara F. Nabbout R, et al. Among authors: elia m. Neurology. 2003 Jun 24;60(12):1961-7. doi: 10.1212/01.wnl.0000069463.41870.2f. Neurology. 2003. PMID: 12821740
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: elia m. Epilepsia. 2006 Oct;47(10):1629-35. doi: 10.1111/j.1528-1167.2006.00641.x. Epilepsia. 2006. PMID: 17054684 Free article.
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.
Striano P, Mancardi MM, Biancheri R, Madia F, Gennaro E, Paravidino R, Beccaria F, Capovilla G, Dalla Bernardina B, Darra F, Elia M, Giordano L, Gobbi G, Granata T, Ragona F, Guerrini R, Marini C, Mei D, Longaretti F, Romeo A, Siri L, Specchio N, Vigevano F, Striano S, Tortora F, Rossi A, Minetti C, Dravet C, Gaggero R, Zara F. Striano P, et al. Among authors: elia m. Epilepsia. 2007 Jun;48(6):1092-6. doi: 10.1111/j.1528-1167.2007.01020.x. Epub 2007 Mar 22. Epilepsia. 2007. PMID: 17381446 Free article.
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy.
Madia F, Gennaro E, Cecconi M, Buti D, Capovilla G, Dalla Bernardina B, Elia M, Ferrari A, Fontana E, Gaggero R, Giannotta M, Giordano L, Granata T, La Selva L, Luisa Lispi M, Santucci M, Vanadia F, Veggiotti P, Vigliano P, Viri M, Dagna Bricarelli F, Bianchi A, Zara F. Madia F, et al. Among authors: elia m. Epilepsy Res. 2003 Mar;53(3):196-200. doi: 10.1016/s0920-1211(03)00022-6. Epilepsy Res. 2003. PMID: 12694927
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: elia m. Neurology. 2007 Jul 17;69(3):250-4. doi: 10.1212/01.wnl.0000265222.24102.db. Neurology. 2007. PMID: 17636062 Clinical Trial.
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: elia m. 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.
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: elia m. 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.
Seizures in Klinefelter's syndrome.
Tatum WO 4th, Passaro EA, Elia M, Guerrini R, Gieron M, Genton P. Tatum WO 4th, et al. Among authors: elia m. Pediatr Neurol. 1998 Oct;19(4):275-8. doi: 10.1016/s0887-8994(98)00055-1. Pediatr Neurol. 1998. PMID: 9830997 Review.
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
Annesi F, Gambardella A, Michelucci R, Bianchi A, Marini C, Canevini MP, Capovilla G, Elia M, Buti D, Chifari R, Striano P, Rocca FE, Castellotti B, Cali F, Labate A, LePiane E, Besana D, Sofia V, Tabiadon G, Tortorella G, Vigliano P, Vignoli A, Beccaria F, Annesi G, Striano S, Aguglia U, Guerrini R, Quattrone A. Annesi F, et al. Among authors: elia m. Epilepsia. 2007 Sep;48(9):1686-1690. doi: 10.1111/j.1528-1167.2007.01173.x. Epub 2007 Jul 18. Epilepsia. 2007. PMID: 17634063 Free article.
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, Zuffardi O, Striano S, Ferrero GB, Silengo M, Cavaliere ML, Benelli M, Magi A, Piccione M, Dagna Bricarelli F, Coviello DA, Fichera M, Minetti C, Zara F. Striano P, et al. Among authors: elia m. Arch Neurol. 2012 Mar;69(3):322-30. doi: 10.1001/archneurol.2011.1999. Epub 2011 Nov 14. Arch Neurol. 2012. PMID: 22083797 Free article. Review.
845 results