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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: giacomini t. Neurol Genet. 2022 May 31;8(3):e676. doi: 10.1212/NXG.0000000000000676. eCollection 2022 Jun. Neurol Genet. 2022. PMID: 35655584 Free PMC article.
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
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.
Bertamino M, Severino M, Grossi A, Rusmini M, Tortora D, Gandolfo C, Pederzoli S, Malattia C, Picco P, Striano P, Ceccherini I, Di Rocco M; Gaslini Pediatric Stroke Group. Bertamino M, et al. Eur J Paediatr Neurol. 2018 Jul;22(4):725-728. doi: 10.1016/j.ejpn.2018.04.002. Epub 2018 Apr 12. Eur J Paediatr Neurol. 2018. PMID: 29709427
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
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.
Bortezomib-Responsive Refractory Anti-N-Methyl-d-Aspartate Receptor Encephalitis.
Cordani R, Micalizzi C, Giacomini T, Gastaldi M, Franciotta D, Fioredda F, Buratti S, Morana G, Pirlo D, Renna S, Castagnola E, Risso M, Lanteri P, Vari MS, Mancardi MM. Cordani R, et al. Among authors: giacomini t. Pediatr Neurol. 2020 Feb;103:61-64. doi: 10.1016/j.pediatrneurol.2019.09.004. Epub 2019 Oct 19. Pediatr Neurol. 2020. PMID: 31759783
Pediatric optic neuritis and anti MOG antibodies: a cohort of Italian patients.
Giacomini T, Foiadelli T, Annovazzi P, Nosadini M, Gastaldi M, Franciotta D, Panarese C, Capris P, Camicione P, Lanteri P, De Grandis E, Prato G, Cordani R, Nobili L, Morana G, Rossi A, Pistorio A, Cellerino M, Uccelli A, Sartori S, Savasta S, Mancardi MM. Giacomini T, et al. Mult Scler Relat Disord. 2020 Apr;39:101917. doi: 10.1016/j.msard.2019.101917. Epub 2019 Dec 24. Mult Scler Relat Disord. 2020. PMID: 31896061
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