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Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome.
Helbig I, Barcia G, Pendziwiat M, Ganesan S, Mueller SH, Helbig KL, Vaidiswaran P, Xian J, Galer PD, Afawi Z, Specchio N, Kluger G, Kuhlenbäumer G, Appenzeller S, Wittig M, Kramer U, van Baalen A, Nabbout R; FIRES Genetics Study Group. Helbig I, et al. Among authors: specchio n. Ann Clin Transl Neurol. 2020 Aug;7(8):1429-1435. doi: 10.1002/acn3.51062. Epub 2020 Jul 14. Ann Clin Transl Neurol. 2020. PMID: 32666661 Free PMC article.
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. Marini C, et al. Among authors: specchio n. Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12. Epilepsia. 2009. PMID: 19400878 Free article.
Childhood refractory focal epilepsy following acute febrile encephalopathy.
Specchio N, Fusco L, Claps D, Trivisano M, Longo D, Cilio MR, Valeriani M, Cusmai R, Cappelletti S, Gentile S, Fariello G, Specchio LM, Vigevano F. Specchio N, et al. Among authors: specchio lm. Eur J Neurol. 2011 Jul;18(7):952-61. doi: 10.1111/j.1468-1331.2010.03253.x. Epub 2010 Nov 18. Eur J Neurol. 2011. PMID: 21087361
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Møller RS, Nikanorova M, Dimova P, Jordanova A, Petrou S; EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group; Helbig I, Striano P, Weckhuysen S, Berkovic SF, Scheffer IE, Mefford HC. Carvill GL, et al. Among authors: specchio n. Am J Hum Genet. 2015 May 7;96(5):808-15. doi: 10.1016/j.ajhg.2015.02.016. Epub 2015 Apr 9. Am J Hum Genet. 2015. PMID: 25865495 Free PMC article.
Claustrum damage and refractory status epilepticus following febrile illness.
Meletti S, Slonkova J, Mareckova I, Monti G, Specchio N, Hon P, Giovannini G, Marcian V, Chiari A, Krupa P, Pietrafusa N, Berankova D, Bar M. Meletti S, et al. Among authors: specchio n. Neurology. 2015 Oct 6;85(14):1224-32. doi: 10.1212/WNL.0000000000001996. Epub 2015 Sep 4. Neurology. 2015. PMID: 26341869 Free PMC article.
PCDH19-related epilepsy in two mosaic male patients.
Terracciano A, Trivisano M, Cusmai R, De Palma L, Fusco L, Compagnucci C, Bertini E, Vigevano F, Specchio N. Terracciano A, et al. Among authors: specchio n. Epilepsia. 2016 Mar;57(3):e51-5. doi: 10.1111/epi.13295. Epub 2016 Jan 14. Epilepsia. 2016. PMID: 26765483 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: specchio n. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
244 results