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Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults.
Panagiotakaki E, Gobbi G, Neville B, Ebinger F, Campistol J, Nevsímalová S, Laan L, Casaer P, Spiel G, Giannotta M, Fons C, Ninan M, Sange G, Schyns T, Vavassori R, Poncelin D; ENRAH Consortium; Arzimanoglou A. Panagiotakaki E, et al. Among authors: giannotta m. Brain. 2010 Dec;133(Pt 12):3598-610. doi: 10.1093/brain/awq295. Epub 2010 Oct 24. Brain. 2010. PMID: 20974617
Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.
Fons C, Campistol J, Panagiotakaki E, Giannotta M, Arzimanoglou A, Gobbi G, Neville B, Ebinger F, Nevšímalová S, Laan L, Casaer P, Spiel G, Ninan M, Sange G, Artuch R, Schyns T, Vavassori R, Poncelin D; ENRAH Consortium. Fons C, et al. Among authors: giannotta m. Eur J Paediatr Neurol. 2012 Jan;16(1):10-4. doi: 10.1016/j.ejpn.2011.08.006. Epub 2011 Sep 25. Eur J Paediatr Neurol. 2012. PMID: 21945173
Comparing cortical auditory processing in children with typical and atypical benign epilepsy with centrotemporal spikes: Electrophysiologic evidence of the role of non-rapid eye movement sleep abnormalities.
Filippini M, Boni A, Giannotta M, Pini A, Russo A, Musti MA, Guerra A, Lassonde M, Gobbi G. Filippini M, et al. Among authors: giannotta m. Epilepsia. 2015 May;56(5):726-34. doi: 10.1111/epi.12959. Epub 2015 Mar 25. Epilepsia. 2015. PMID: 25809446 Free article.
West syndrome in three patients with brain injury and a benign course.
Russo A, Duchowny M, Boni A, Giannotta M, Filippini M, Gobbi G. Russo A, et al. Among authors: giannotta m. Epilepsy Behav Case Rep. 2017 Mar 15;8:35-39. doi: 10.1016/j.ebcr.2017.03.002. eCollection 2017. Epilepsy Behav Case Rep. 2017. PMID: 28794986 Free PMC article.
White matter and cerebellar involvement in alternating hemiplegia of childhood.
Severino M, Pisciotta L, Tortora D, Toselli B, Stagnaro M, Cordani R, Morana G, Zicca A, Kotzeva S, Zanaboni C, Montobbio G, Rossi A, De Grandis E; IBAHC Consortium. Severino M, et al. J Neurol. 2020 May;267(5):1300-1311. doi: 10.1007/s00415-020-09698-3. Epub 2020 Jan 16. J Neurol. 2020. PMID: 31950366
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium; Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB. Heinzen EL, et al. Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842232 Free PMC article.
No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy.
Madia F, Gennaro E, Cecconi M, Buti D, Capovilla G, Dalla Bernardina B, Elia M, Ferrari A, Fontana E, Gaggero R, Giannotta M, Giordano L, Granata T, La Selva L, Luisa Lispi M, Santucci M, Vanadia F, Veggiotti P, Vigliano P, Viri M, Dagna Bricarelli F, Bianchi A, Zara F. Madia F, et al. Among authors: giannotta m. Epilepsy Res. 2003 Mar;53(3):196-200. doi: 10.1016/s0920-1211(03)00022-6. Epilepsy Res. 2003. PMID: 12694927
Distinct neurological disorders with ATP1A3 mutations.
Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B; ATP1A3 Working Group. Heinzen EL, et al. Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0. Lancet Neurol. 2014. PMID: 24739246 Free PMC article. Review.
74 results