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Page 1
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
Amadori E, Scala M, Cereda GS, Vari MS, Marchese F, Di Pisa V, Mancardi MM, Giacomini T, Siri L, Vercellino F, Serino D, Orsini A, Bonuccelli A, Bagnasco I, Papa A, Minetti C, Cordelli DM, Striano P. Amadori E, et al. Ital J Pediatr. 2020 Jul 6;46(1):92. doi: 10.1186/s13052-020-00860-1. Ital J Pediatr. 2020. PMID: 32631363 Free PMC article.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Emerging treatments for progressive myoclonus epilepsies.
Riva A, Guglielmo A, Balagura G, Marchese F, Amadori E, Iacomino M, Minassian BA, Zara F, Striano P. Riva A, et al. Among authors: amadori e. Expert Rev Neurother. 2020 Apr;20(4):341-350. doi: 10.1080/14737175.2020.1741350. Epub 2020 Mar 17. Expert Rev Neurother. 2020. PMID: 32153206 Free PMC article. Review.
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: amadori e. 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
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: amadori 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.
Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation.
Riva A, Coppola A, Balagura G, Scala M, Iacomino M, Marchese F, Amadori E, Lattanzi S, Meo R, Striano S, Salpietro V, Zara F, Minetti C, Striano P, Bilo L. Riva A, et al. Among authors: amadori e. Epileptic Disord. 2021 Apr 1;23(2):397-401. doi: 10.1684/epd.2021.1266. Epileptic Disord. 2021. PMID: 33851920
63 results