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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
2000 1
2005 2
2006 5
2007 4
2008 3
2009 2
2010 3
2011 7
2012 5
2013 7
2014 5
2015 1
2016 4
2017 5
2018 5
2019 4
2020 3
2021 9
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71 results
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Page 1
Clinical spectrum of STX1B-related epileptic disorders.
Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J. Wolking S, et al. Among authors: darra f. Neurology. 2019 Mar 12;92(11):e1238-e1249. doi: 10.1212/WNL.0000000000007089. Epub 2019 Feb 8. Neurology. 2019. PMID: 30737342 Free PMC article.
The phenotype of SCN8A developmental and epileptic encephalopathy.
Gardella E, Marini C, Trivisano M, Fitzgerald MP, Alber M, Howell KB, Darra F, Siliquini S, Bölsterli BK, Masnada S, Pichiecchio A, Johannesen KM, Jepsen B, Fontana E, Anibaldi G, Russo S, Cogliati F, Montomoli M, Specchio N, Rubboli G, Veggiotti P, Beniczky S, Wolff M, Helbig I, Vigevano F, Scheffer IE, Guerrini R, Møller RS. Gardella E, et al. Among authors: darra f. Neurology. 2018 Sep 18;91(12):e1112-e1124. doi: 10.1212/WNL.0000000000006199. Epub 2018 Aug 31. Neurology. 2018. PMID: 30171078 Free article.
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.
Masnada S, Pichiecchio A, Formica M, Arrigoni F, Borrelli P, Accorsi P, Bonanni P, Borgatti R, Bernardina BD, Danieli A, Darra F, Deconinck N, De Giorgis V, Dulac O, Gataullina S, Giordano L, Guerrini R, La Briola F, Mastrangelo M, Montomoli M, Mortilla M, Osanni E, Parisi P, Perucca E, Pinelli L, Romaniello R, Severino M, Vigevano F, Vignoli A, Bahi-Buisson N, Cavallin M, Accogli A, Burgeois M, Capra V, Chaves-Vischer V, Chiapparini L, Colafati G, D'Arrigo S, Desguerre I, Doco-Fenzy M, d'Orsi G, Epitashvili N, Fazzi E, Ferretti A, Fiorini E, Fradin M, Fusco C, Granata T, Johannesen KM, Lebon S, Loget P, Moller RS, Montanaro D, Orcesi S, Quelin C, Rebessi E, Romeo A, Solazzi R, Spagnoli C, Uebler C, Zara F, Arzimanoglou A, Veggiotti P; Aicardi Syndrome International Study Group. Masnada S, et al. Among authors: darra f. Neurology. 2021 Mar 2;96(9):e1319-e1333. doi: 10.1212/WNL.0000000000011237. Epub 2020 Dec 4. Neurology. 2021. PMID: 33277420
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J. Poirier K, et al. Among authors: darra f. Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21. Nat Genet. 2013. PMID: 23603762 Free PMC article.
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.
Trivisano M, Pietrafusa N, Terracciano A, Marini C, Mei D, Darra F, Accorsi P, Battaglia D, Caffi L, Canevini MP, Cappelletti S, Cesaroni E, de Palma L, Costa P, Cusmai R, Giordano L, Ferrari A, Freri E, Fusco L, Granata T, Martino T, Mastrangelo M, Bova SM, Parmeggiani L, Ragona F, Sicca F, Striano P, Specchio LM, Tondo I, Zambrelli E, Zamponi N, Zanus C, Boniver C, Vecchi M, Avolio C, Dalla Bernardina B, Bertini E, Guerrini R, Vigevano F, Specchio N. Trivisano M, et al. Among authors: darra f. Epilepsia. 2018 Dec;59(12):2260-2271. doi: 10.1111/epi.14600. Epub 2018 Nov 19. Epilepsia. 2018. PMID: 30451291
Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real-world study.
Specchio N, Pietrafusa N, Doccini V, Trivisano M, Darra F, Ragona F, Cossu A, Spolverato S, Battaglia D, Quintiliani M, Luigia Gambardella M, Rosati A, Mei D, Granata T, Dalla Bernardina B, Vigevano F, Guerrini R. Specchio N, et al. Among authors: darra f. Epilepsia. 2020 Nov;61(11):2405-2414. doi: 10.1111/epi.16690. Epub 2020 Sep 18. Epilepsia. 2020. PMID: 32945537 Clinical Trial.
Neuroimaging Changes in Menkes Disease, Part 1.
Manara R, D'Agata L, Rocco MC, Cusmai R, Freri E, Pinelli L, Darra F, Procopio E, Mardari R, Zanus C, Di Rosa G, Soddu C, Severino M, Ermani M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases. Manara R, et al. Among authors: darra f. AJNR Am J Neuroradiol. 2017 Oct;38(10):1850-1857. doi: 10.3174/ajnr.A5186. Epub 2017 May 11. AJNR Am J Neuroradiol. 2017. PMID: 28495946 Free PMC article. Review.
Neuroimaging Changes in Menkes Disease, Part 2.
Manara R, Rocco MC, D'agata L, Cusmai R, Freri E, Giordano L, Darra F, Procopio E, Toldo I, Peruzzi C, Vittorini R, Spalice A, Fusco C, Nosadini M, Longo D, Sartori S; Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases. Manara R, et al. Among authors: darra f. AJNR Am J Neuroradiol. 2017 Oct;38(10):1858-1865. doi: 10.3174/ajnr.A5192. Epub 2017 May 11. AJNR Am J Neuroradiol. 2017. PMID: 28495940 Free PMC article. Review.
Gait abnormalities in people with Dravet syndrome: A cross-sectional multi-center study.
Di Marco R, Hallemans A, Bellon G, Ragona F, Piazza E, Granata T, Ceulemans B, Schoonjans AS, Van de Walle P, Darra F, Dalla Bernardina B, Vecchi M, Sawacha Z, Scarpa B, Masiero S, Benedetti MG, Del Felice A. Di Marco R, et al. Among authors: darra f. Eur J Paediatr Neurol. 2019 Nov;23(6):808-818. doi: 10.1016/j.ejpn.2019.09.010. Epub 2019 Sep 21. Eur J Paediatr Neurol. 2019. PMID: 31582194
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