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Fenfluramine treatment for Dravet syndrome: Long term real-world analysis demonstrates safety and reduced health care burden.
Boncristiano A, Balestrini S, Doccini V, Specchio N, Pietrafusa N, Trivisano M, Darra F, Cossu A, Battaglia D, Quintiliani M, Gambardella ML, Parente E, Monni R, Matricardi S, Marini C, Ragona F, Granata T, Striano P, Riva A, Guerrini R. Boncristiano A, et al. Among authors: striano p. Epilepsia. 2024 Dec 30. doi: 10.1111/epi.18241. Online ahead of print. Epilepsia. 2024. PMID: 39740232
Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.
Cerulli Irelli E, Fanella M, Chaumette B, Putotto C, Mignot C, Mazzeo A, Lemke JR, Riva A, Accinni T, Louveau C, Giovannetti A, Pugnaloni F, Gavaret M, Di Fabio F, Fortunato F, Dorn T, Ferlazzo E, Gambardella A, Ramantani G, Orlando B, Iftimovici A, Operto FF, Pulvirenti F, Kluger G, Caputo V, Striano P, Di Bonaventura C. Cerulli Irelli E, et al. Among authors: striano p. Epilepsia. 2024 Dec 24. doi: 10.1111/epi.18220. Online ahead of print. Epilepsia. 2024. PMID: 39718534
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M; SYNAPS Study Group; Badv RS, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler K, Kershaw C, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, Houlden H. Aughey GN, et al. Brain. 2024 Dec 18:awae363. doi: 10.1093/brain/awae363. Online ahead of print. Brain. 2024. PMID: 39692517
ARID1B-related disorder in 87 adults: Natural history and self-sustainability.
van der Sluijs PJ, Gösgens M, Dingemans AJM, Striano P, Riva A, Mignot C, Faudet A, Vasileiou G, Walther M, Schrier Vergano SA, Alders M, Alkuraya FS, Alorainy I, Alsaif HS, Anderlid B, Bache I, van Beek I, Blanluet M, van Bon BW, Brunet T, Brunner H, Carriero ML, Charles P, Chatron N, Coccia E, Dubourg C, Earl RK, Eichler EE, Faivre L, Foulds N, Graziano C, Guerrot AM, Hashem MO, Heide S, Heron D, Hickey SE, Hopman SMJ, Kattentidt-Mouravieva A, Kerkhof J, Klein Wassink-Ruiter JS, Kurtz-Nelson EC, Kušíková K, Kvarnung M, Lecoquierre F, Leszinski GS, Loberti L, Magoulas PL, Mari F, Maystadt I, Merla G, Milunsky JM, Moortgat S, Nicolas G, Leary MO', Odent S, Ozmore JR, Parbhoo K, Pfundt R, Piccione M, Pinto AM, Popp B, Putoux A, Rehm HL, Reis A, Renieri A, Rosenfeld JA, Rossi M, Salzano E, Saugier-Veber P, Seri M, Severi G, Sonmez FM, Strobl-Wildemann G, Stuurman KE, Uctepe E, Van Esch H, Vitetta G, de Vries BBA, Wahl D, Wang T, Zacher P, Heitink KR, Ropers FG, Steenbeek D, Rybak T, Santen GWE. van der Sluijs PJ, et al. Among authors: striano p. Genet Med Open. 2024 Jul 23;2:101873. doi: 10.1016/j.gimo.2024.101873. eCollection 2024. Genet Med Open. 2024. PMID: 39669611 Free PMC article.
861 results