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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
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium; Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E. Niturad CE, et al. Among authors: specchio n. Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236. Brain. 2017. PMID: 29053855
What are the epileptic encephalopathies?
Trivisano M, Specchio N. Trivisano M, et al. Among authors: specchio n. Curr Opin Neurol. 2020 Apr;33(2):179-184. doi: 10.1097/WCO.0000000000000793. Curr Opin Neurol. 2020. PMID: 32049741 Review.
Treatment of infantile spasms: why do we know so little?
Specchio N, Pietrafusa N, Ferretti A, De Palma L, Santarone ME, Pepi C, Trivisano M, Vigevano F, Curatolo P. Specchio N, et al. Expert Rev Neurother. 2020 Jun;20(6):551-566. doi: 10.1080/14737175.2020.1759423. Epub 2020 Jun 19. Expert Rev Neurother. 2020. PMID: 32316776 Review.
Autism and Epilepsy in Patients With Tuberous Sclerosis Complex.
Specchio N, Pietrafusa N, Trivisano M, Moavero R, De Palma L, Ferretti A, Vigevano F, Curatolo P. Specchio N, et al. Front Neurol. 2020 Aug 11;11:639. doi: 10.3389/fneur.2020.00639. eCollection 2020. Front Neurol. 2020. PMID: 32849171 Free PMC article.
238 results