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Page 1
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM. Karayol R, et al. Among authors: canevini mp. Am J Hum Genet. 2024 Jul 11;111(7):1330-1351. doi: 10.1016/j.ajhg.2024.05.001. Epub 2024 May 29. Am J Hum Genet. 2024. PMID: 38815585 Free PMC article.
Clinical dissection of early onset absence epilepsy in children and prognostic implications.
Agostinelli S, Accorsi P, Beccaria F, Belcastro V, Canevini MP, Capovilla G, Cappanera S, Dalla Bernardina B, Darra F, Del Gaudio L, Elia M, Falsaperla R, Giordano L, Gobbi G, Minetti C, Nicita F, Parisi P, Pavone P, Pezzella M, Sesta M, Spalice A, Striano S, Tozzi E, Traverso M, Vari S, Vignoli A, Zamponi N, Zara F, Striano P, Verrotti A; SINP (Società Italiana Neurologia Pediatrica) Collaborative Working Group. Agostinelli S, et al. Among authors: canevini mp. Epilepsia. 2013 Oct;54(10):1761-70. doi: 10.1111/epi.12341. Epub 2013 Aug 27. Epilepsia. 2013. PMID: 24032425 Free article.
Is highly purified cannabidiol a treatment opportunity for drug-resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder?
Vignoli A, Prato G, Alfei E, Bagnasco I, Danieli A, Celario M, Favaro J, Matricardi S, Operto FF, Orsini A, Bernasconi DP, Pietrafusa N, Ricci E, Manfredini L, Balletto G, Bonanni P, Canevini MP, De Giorgis V, Nobili L, Sartori S, Savini MN, Viganò I, Specchio N. Vignoli A, et al. Among authors: canevini mp. Epilepsia Open. 2025 Jun 21. doi: 10.1002/epi4.70078. Online ahead of print. Epilepsia Open. 2025. PMID: 40543048 Free article.
Real-world use of adjunctive perampanel for focal-onset seizures in Italy: A mirroring clinical practice study of perampanel in adults and adolescents (AMPA).
D'Aniello A, Giallonardo AT, Tinuper P, Mecarelli O, Aguglia U, Assenza G, Gambardella A, Canevini MP, Scifo R, Meletti S, De Giorgis V, Bonanni E, Michelucci R, Cerminara C, Romeo A, Vigevano F, Operto FF, Tramacere L, Di Gennaro G; Alfonso Iudice on behalf of the AMPA Study group; Ngo LY, Patten A, Gentile AL, Pecori A, Goldman S. D'Aniello A, et al. Among authors: canevini mp. Epilepsia Open. 2025 Jun 4. doi: 10.1002/epi4.70068. Online ahead of print. Epilepsia Open. 2025. PMID: 40468531 Free article.
Utility and limitations of homemade videos in differentiating functional seizures from other paroxysmal events: An Italian cohort study.
Gasparini S, Giussani G, Bianchi E, Magaudda A, Labate A, Laganà A, Martellino C, Casazza M, Didato G, Chiesa V, Canevini MP, Belcastro V, Bocci T, Domina E, La Neve A, Meletti S, Poloni M, Salsano E, Velucci V, Martini S, Bova V, Mammì A, Pascarella A, Cianci V, Ferlazzo E, Aguglia U, Erba G. Gasparini S, et al. Among authors: canevini mp. Epilepsia Open. 2025 Jun;10(3):918-929. doi: 10.1002/epi4.70050. Epub 2025 Apr 28. Epilepsia Open. 2025. PMID: 40292485 Free PMC article.
Adjunctive Brivaracetam in People with Epilepsy and Intellectual Disability: Evidence from the BRIVAracetam Add-On First Italian netwoRk Study.
Lattanzi S, Canafoglia L, Canevini MP, Casciato S, Irelli EC, Chiesa V, Dainese F, De Maria G, Didato G, Di Gennaro G, Falcicchio G, Fanella M, Ferlazzo E, Gangitano M, La Neve A, Mecarelli O, Montalenti E, Morano A, Piazza F, Pizzanelli C, Pulitano P, Ranzato F, Rosati E, Tassi L, Di Bonaventura C; BRIVAracetam add‑on First Italian netwoRk Study (BRIVAFIRST) Group Membership. Lattanzi S, et al. Among authors: canevini mp. Neurol Ther. 2025 Jun;14(3):775-786. doi: 10.1007/s40120-025-00717-x. Epub 2025 Mar 12. Neurol Ther. 2025. PMID: 40069539 Free PMC article.
24-h continuous non-invasive multiparameter home monitoring of vitals in patients with Rett syndrome by an innovative wearable technology: evidence of an overlooked chronic fatigue status.
Leoncini S, Boasiako L, Di Lucia S, Beker A, Scandurra V, Vignoli A, Canevini MP, Prato G, Nobili L, Nicotera AG, Di Rosa G, Chiarini MBT, Cutrera R, Grosso S, Lazzeri G, Tongiorgi E, Morano P, Botteghi M, Barducci A, De Felice C. Leoncini S, et al. Among authors: canevini mp. Front Neurol. 2024 Jun 17;15:1388506. doi: 10.3389/fneur.2024.1388506. eCollection 2024. Front Neurol. 2024. PMID: 38952469 Free PMC article.
215 results