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Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
De Maria B, Balestrini S, Mei D, Melani F, Pellacani S, Pisano T, Rosati A, Scaturro GM, Giordano L, Cantalupo G, Fontana E, Zammarchi C, Said E, Leuzzi V, Mastrangelo M, Galosi S, Parrini E, Guerrini R. De Maria B, et al. Among authors: fontana e. Am J Med Genet A. 2022 Feb;188(2):522-533. doi: 10.1002/ajmg.a.62548. Epub 2021 Oct 29. Am J Med Genet A. 2022. PMID: 34713950
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.
Ragona F, Granata T, Dalla Bernardina B, Offredi F, Darra F, Battaglia D, Morbi M, Brazzo D, Cappelletti S, Chieffo D, De Giorgi I, Fontana E, Freri E, Marini C, Toraldo A, Specchio N, Veggiotti P, Vigevano F, Guerrini R, Guzzetta F, Dravet C. Ragona F, et al. Among authors: fontana e. Epilepsia. 2011 Feb;52(2):386-92. doi: 10.1111/j.1528-1167.2010.02925.x. Epub 2011 Jan 26. Epilepsia. 2011. PMID: 21269283 Free article.
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A. Caciotti A, et al. Among authors: fontana e. Biochim Biophys Acta. 2011 Jul;1812(7):782-90. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7. Biochim Biophys Acta. 2011. PMID: 21497194 Free PMC article.
Efficacy of ketamine in refractory convulsive status epilepticus in children: a protocol for a sequential design, multicentre, randomised, controlled, open-label, non-profit trial (KETASER01).
Rosati A, Ilvento L, L'Erario M, De Masi S, Biggeri A, Fabbro G, Bianchi R, Stoppa F, Fusco L, Pulitanò S, Battaglia D, Pettenazzo A, Sartori S, Biban P, Fontana E, Cesaroni E, Mora D, Costa P, Meleleo R, Vittorini R, Conio A, Wolfler A, Mastrangelo M, Mondardini MC, Franzoni E, McGreevy KS, Di Simone L, Pugi A, Mirabile L, Vigevano F, Guerrini R. Rosati A, et al. Among authors: fontana e. BMJ Open. 2016 Jun 15;6(6):e011565. doi: 10.1136/bmjopen-2016-011565. BMJ Open. 2016. PMID: 27311915 Free PMC article. Clinical Trial.
Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study.
Vecchi M, Barba C, De Carlo D, Stivala M, Guerrini R, Albamonte E, Ranalli D, Battaglia D, Lunardi G, Boniver C, Piccolo B, Pisani F, Cantalupo G, Nieddu G, Casellato S, Cappanera S, Cesaroni E, Zamponi N, Serino D, Fusco L, Iodice A, Palestra F, Giordano L, Freri E, De Giorgi I, Ragona F, Granata T, Fiocchi I, Bova SM, Mastrangelo M, Verrotti A, Matricardi S, Fontana E, Caputo D, Darra F, Dalla Bernardina B, Beccaria F, Capovilla G, Baglietto MP, Gagliardi A, Vignoli A, Canevini MP, Perissinotto E, Francione S. Vecchi M, et al. Among authors: fontana e. Epilepsia. 2016 Nov;57(11):1808-1816. doi: 10.1111/epi.13574. Epub 2016 Oct 20. Epilepsia. 2016. PMID: 27762437 Free article.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: fontana e. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15).
Matricardi S, Darra F, Spalice A, Basti C, Fontana E, Dalla Bernardina B, Elia M, Giordano L, Accorsi P, Cusmai R, De Liso P, Romeo A, Ragona F, Granata T, Concolino D, Carotenuto M, Pavone P, Pruna D, Striano P, Savasta S, Verrotti A. Matricardi S, et al. Among authors: fontana e. Acta Neurol Scand. 2018 Jun;137(6):575-581. doi: 10.1111/ane.12902. Epub 2018 Jan 23. Acta Neurol Scand. 2018. PMID: 29363096
325 results