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Epileptic seizures, movement disorders, and breathing disturbances in Rett syndrome: diagnostic relevance of video-polygraphy.
d'Orsi G, Trivisano M, Luisi C, Demaio V, Di Claudio MT, Pascarella MG, Sciruicchio V, Galeone D, La Neve A, Scarpelli F, Calvario T, Minervini M, La Selva L, Specchio LM. d'Orsi G, et al. Among authors: trivisano m. Epilepsy Behav. 2012 Nov;25(3):401-7. doi: 10.1016/j.yebeh.2012.08.033. Epub 2012 Oct 26. Epilepsy Behav. 2012. PMID: 23103540
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
Orlando V, Di Tommaso S, Alesi V, Loddo S, Genovese S, Catino G, Martucci L, Roberti MC, Trivisano M, Dentici ML, Specchio N, Dallapiccola B, Ferretti A, Novelli A. Orlando V, et al. Among authors: trivisano m. Int J Mol Sci. 2022 Oct 26;23(21):12900. doi: 10.3390/ijms232112900. Int J Mol Sci. 2022. PMID: 36361691 Free PMC article.
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
von Wintzingerode L, Ben-Zeev B, Cesario C, Chan KM, Depienne C, Elpeleg O, Iascone M, Kelley WV, Nassogne MC, Niceta M, Pezzani L, Rahner N, Revencu N, Bekheirnia MR, Santiago-Sim T, Tartaglia M, Thompson ML, Trivisano M, Hentschel J, Sticht H, Abou Jamra R, Oppermann H. von Wintzingerode L, et al. Among authors: trivisano m. Genet Med. 2023 Jul;25(7):100859. doi: 10.1016/j.gim.2023.100859. Epub 2023 Apr 20. Genet Med. 2023. PMID: 37092538
121 results