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226 results

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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: capovilla g. Neurol Genet. 2020 Nov 30;6(6):e528. doi: 10.1212/NXG.0000000000000528. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33659638 Free PMC 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: capovilla g. Epilepsy Res. 2003 Mar;53(3):196-200. doi: 10.1016/s0920-1211(03)00022-6. Epilepsy Res. 2003. PMID: 12694927
Short-term nonhormonal and nonsteroid treatment in West syndrome.
Capovilla G, Beccaria F, Montagnini A, Cusmai R, Franzoni E, Moscano F, Coppola G, Carotenuto M, Gobbi G, Seri S, Nabbout R, Vigevano F. Capovilla G, et al. Epilepsia. 2003 Aug;44(8):1085-8. doi: 10.1046/j.1528-1157.2003.55402.x. Epilepsia. 2003. PMID: 12887441 Free article.
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: capovilla g. Epilepsia. 2006 Jun;47(6):1029-34. doi: 10.1111/j.1528-1167.2006.00521.x. Epilepsia. 2006. PMID: 16822249 Free article.
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: capovilla g. 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: capovilla g. 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.
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: capovilla g. 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.
A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome).
Striano P, Sofia V, Capovilla G, Rubboli G, Di Bonaventura C, Coppola A, Vitale G, Fontanillas L, Giallonardo AT, Biondi R, Romeo A, Viri M, Zara F, Striano S. Striano P, et al. Among authors: capovilla g. Epilepsia. 2008 Mar;49(3):425-30. doi: 10.1111/j.1528-1167.2007.01524.x. Epub 2008 Jan 29. Epilepsia. 2008. PMID: 18248445 Free article. Clinical Trial.
226 results