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Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, Chiesa V, Christensen J, Dalla Bernardina B, Ellis CA, Furia F, Gardiner F, Giron C, Guerrini R, Klein KM, Korff C, Krijtova H, Leffler M, Lerche H, Lesca G, Lewis-Smith D, Marini C, Marjanovic D, Mazzola L, McKeown Ruggiero S, Mochel F, Ramond F, Reif PS, Richard-Mornas A, Rosenow F, Schropp C, Thomas RH, Vignoli A, Weber Y, Palmer E, Helbig I, Scheffer IE, Striano P, Møller RS, Gardella E, Weckhuysen S. Stamberger H, et al. Among authors: balagura g. Neurology. 2022 Jul 19;99(3):e221-e233. doi: 10.1212/WNL.0000000000200715. Epub 2022 Jun 3. Neurology. 2022. PMID: 35851549 Free PMC article.
Emerging drugs for the treatment of Dravet syndrome.
Brigo F, Striano P, Balagura G, Belcastro V. Brigo F, et al. Among authors: balagura g. Expert Opin Emerg Drugs. 2018 Dec;23(4):261-269. doi: 10.1080/14728214.2018.1552937. Epub 2018 Dec 4. Expert Opin Emerg Drugs. 2018. PMID: 30482063 Review.
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.
Schulz H, Ruppert AK, Zara F, Madia F, Iacomino M, S Vari M, Balagura G, Minetti C, Striano P, Bianchi A, Marini C, Guerrini R, Weber YG, Becker F, Lerche H, Kapser C, Schankin CJ, Kunz WS, Møller RS, Oliver KL, Bellows ST, Mullen SA, Berkovic SF, Scheffer IE, Caglayan H, Ozbek U, Hoffmann P, Schramm S, Tsortouktzidis D, Becker AJ, Sander T. Schulz H, et al. Among authors: balagura g. Epilepsia. 2019 May;60(5):e31-e36. doi: 10.1111/epi.14657. Epub 2019 Feb 4. Epilepsia. 2019. PMID: 30719712
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: balagura g. 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. 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
Intramuscular Midazolam for treatment of Status Epilepticus.
Riva A, Iapadre G, Grasso EA, Balagura G, Striano P, Verrotti A. Riva A, et al. Among authors: balagura g. Expert Opin Pharmacother. 2021 Jan;22(1):37-44. doi: 10.1080/14656566.2020.1810236. Epub 2020 Aug 25. Expert Opin Pharmacother. 2021. PMID: 32840150 Review.
36 results