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The spectrum of intermediate SCN8A-related epilepsy.
Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS. Johannesen KM, et al. Among authors: giacomini t. Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10. Epilepsia. 2019. PMID: 30968951
Antiepileptic drugs in Rett Syndrome.
Pintaudi M, Calevo MG, Vignoli A, Baglietto MG, Hayek Y, Traverso M, Giacomini T, Giordano L, Renieri A, Russo S, Canevini M, Veneselli E. Pintaudi M, et al. Among authors: giacomini t. Eur J Paediatr Neurol. 2015 Jul;19(4):446-52. doi: 10.1016/j.ejpn.2015.02.007. Epub 2015 Mar 5. Eur J Paediatr Neurol. 2015. PMID: 25814391
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review.
Giacomini T, Pisciotta L, Prato G, Meola I, Zara F, Fiorillo C, Baratto S, Severino M, De Grandis E, Mancardi MM. Giacomini T, et al. Seizure. 2019 Aug;70:56-58. doi: 10.1016/j.seizure.2019.06.029. Epub 2019 Jun 27. Seizure. 2019. PMID: 31279168 Free article. Review. No abstract available.
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.
Accogli A, Severino M, Riva A, Madia F, Balagura G, Iacomino M, Carlini B, Baldassari S, Giacomini T, Croci C, Pisciotta L, Messana T, Boni A, Russo A, Bilo L, Tonziello R, Coppola A, Filla A, Mecarelli O, Casalone R, Pisani F, Falsaperla R, Marino S, Parisi P, Ferretti A, Elia M, Luchetti A, Milani D, Vanadia F, Silvestri L, Rebessi E, Parente E, Vatti G, Mancardi MM, Nobili L, Capra V, Salpietro V, Striano P, Zara F. Accogli A, et al. Among authors: giacomini t. Seizure. 2020 Aug;80:145-152. doi: 10.1016/j.seizure.2020.05.023. Epub 2020 Jun 3. Seizure. 2020. PMID: 32570172 Free article.
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. Among authors: giacomini t. 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.
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: giacomini t. 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
CASK related disorder: Epilepsy and developmental outcome.
Giacomini T, Nuovo S, Zanni G, Mancardi MM, Cusmai R, Pepi C, Bertini E, Valente EM, Battini R, Ferrari A, Romaniello R, Zucca C, Borgatti R, Uccella S, Severino M, Striano P, Pistorio A, Prato G, De Grandis E, Nobili L, Pisciotta L. Giacomini T, et al. Eur J Paediatr Neurol. 2021 Mar;31:61-69. doi: 10.1016/j.ejpn.2021.02.006. Epub 2021 Feb 19. Eur J Paediatr Neurol. 2021. PMID: 33640666
Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies.
Tortora D, Cataldi M, Severino M, Consales A, Pacetti M, Parodi C, Sertorio F, Ramaglia A, Cognolato E, Nobile G, Mancardi M, Prato G, Siri L, Giacomini T, Striano P, Arnaldi D, Piatelli G, Rossi A, Nobili L. Tortora D, et al. Among authors: giacomini t. Diagnostics (Basel). 2022 Mar 25;12(4):811. doi: 10.3390/diagnostics12040811. Diagnostics (Basel). 2022. PMID: 35453858 Free PMC article.
90 results