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Epilepsy Course and Developmental Trajectories in STXBP1-DEE.
Balagura G, Xian J, Riva A, Marchese F, Ben Zeev B, Rios L, Sirsi D, Accorsi P, Amadori E, Astrea G, Baldassari S, Beccaria F, Boni A, Budetta M, Cantalupo G, Capovilla G, Cesaroni E, Chiesa V, Coppola A, Dilena R, Faggioli R, Ferrari A, Fiorini E, Madia F, Gennaro E, Giacomini T, Giordano L, Iacomino M, Lattanzi S, Marini C, Mancardi MM, Mastrangelo M, Messana T, Minetti C, Nobili L, Papa A, Parmeggiani A, Pisano T, Russo A, Salpietro V, Savasta S, Scala M, Accogli A, Scelsa B, Scudieri P, Spalice A, Specchio N, Trivisano M, Tzadok M, Valeriani M, Vari MS, Verrotti A, Vigevano F, Vignoli A, Toonen R, Zara F, Helbig I, Striano P. Balagura G, et al. Among authors: gennaro e. Neurol Genet. 2022 May 31;8(3):e676. doi: 10.1212/NXG.0000000000000676. eCollection 2022 Jun. Neurol Genet. 2022. PMID: 35655584 Free PMC article.
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: gennaro e. Neurol Genet. 2020 Nov 30;6(6):e528. doi: 10.1212/NXG.0000000000000528. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33659638 Free PMC article.
Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.
Dilena R, DiFrancesco JC, Soldovieri MV, Giacobbe A, Ambrosino P, Mosca I, Galli MA, Guez S, Fumagalli M, Miceli F, Cattaneo D, Darra F, Gennaro E, Zara F, Striano P, Castellotti B, Gellera C, Varesio C, Veggiotti P, Taglialatela M. Dilena R, et al. Among authors: gennaro e. Neurotherapeutics. 2018 Oct;15(4):1112-1126. doi: 10.1007/s13311-018-0657-9. Neurotherapeutics. 2018. PMID: 30112700 Free PMC article.
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.
Riva A, Orsini A, Scala M, Taramasso V, Canafoglia L, d'Orsi G, Di Claudio MT, Avolio C, D'Aniello A, Elia M, Franceschetti S, Di Gennaro G, Bisulli F, Tinuper P, Tappatà M, Romeo A, Freri E, Marini C, Costa C, Sofia V, Ferlazzo E, Magaudda A, Veggiotti P, Gennaro E, Pistorio A, Minetti C, Bianchi A, Striano S, Michelucci R, Zara F, Minassian BA, Striano P; Italian League Against Epilepsy Genetic Commission. Riva A, et al. Among authors: gennaro e. J Neurol Sci. 2021 May 15;424:117409. doi: 10.1016/j.jns.2021.117409. Epub 2021 Mar 20. J Neurol Sci. 2021. PMID: 33773408 Free PMC article.
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: gennaro e. Neurology. 2007 Jul 17;69(3):250-4. doi: 10.1212/01.wnl.0000265222.24102.db. Neurology. 2007. PMID: 17636062 Clinical Trial.
148 results