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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators. Vetro A, et al. Among authors: santucci m. Brain. 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. Brain. 2021. PMID: 33880529
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.
Bartolini E, Falchi M, Zellini F, Parrini E, Grisotto L, Cosottini M, Posar A, Parmeggiani A, Ambrosetto G, Ferrari AR, Santucci M, Salas-Puig J, Barba C, Guerrini R. Bartolini E, et al. Among authors: santucci m. Neurology. 2016 Mar 29;86(13):1250-9. doi: 10.1212/WNL.0000000000002526. Epub 2016 Mar 4. Neurology. 2016. PMID: 26944271
Cortical reflex myoclonus in Rett syndrome.
Guerrini R, Bonanni P, Parmeggiani L, Santucci M, Parmeggiani A, Sartucci F. Guerrini R, et al. Among authors: santucci m. Ann Neurol. 1998 Apr;43(4):472-9. doi: 10.1002/ana.410430410. Ann Neurol. 1998. PMID: 9546328
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ricos MG, Hodgson BL, Pippucci T, Saidin A, Ong YS, Heron SE, Licchetta L, Bisulli F, Bayly MA, Hughes J, Baldassari S, Palombo F; Epilepsy Electroclinical Study Group; Santucci M, Meletti S, Berkovic SF, Rubboli G, Thomas PQ, Scheffer IE, Tinuper P, Geoghegan J, Schreiber AW, Dibbens LM. Ricos MG, et al. Among authors: santucci m. Ann Neurol. 2016 Jan;79(1):120-31. doi: 10.1002/ana.24547. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26505888
Early-onset absence epilepsy and paroxysmal dyskinesia.
Guerrini R, Sanchez-Carpintero R, Deonna T, Santucci M, Bhatia KP, Moreno T, Parmeggiani L, Bernardina BD. Guerrini R, et al. Among authors: santucci m. Epilepsia. 2002 Oct;43(10):1224-9. doi: 10.1046/j.1528-1157.2002.13802.x. Epilepsia. 2002. PMID: 12366739 Free article.
EEG features and epilepsy in patients with autism.
Rossi PG, Parmeggiani A, Bach V, Santucci M, Visconti P. Rossi PG, et al. Among authors: santucci m. Brain Dev. 1995 May-Jun;17(3):169-74. doi: 10.1016/0387-7604(95)00019-8. Brain Dev. 1995. PMID: 7573755
386 results