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Quantitative EEG biomarkers for STXBP1-related disorders.
Cossu A, Furia F, Proietti J, Ancora C, Reale C, Darra F, Previtali R, Bernardina BD, Rubboli G, Beniczky S, Møller RS, Cantalupo G, Gardella E. Cossu A, et al. Among authors: cantalupo g. Epilepsia. 2024 Dec;65(12):3595-3606. doi: 10.1111/epi.18154. Epub 2024 Oct 28. Epilepsia. 2024. PMID: 39463124 Free PMC article.
Sleep disturbances in SCN8A-related disorders.
Furia F, Johannesen KM, Bonardi CM, Previtali R, Aledo-Serrano A, Mastrangelo M, Favaro J, Masnada S, di Micco V, Proietti J, Veggiotti P, Rubboli G, Cantalupo G, Olofsson K, Møller RS, Gardella E. Furia F, et al. Among authors: cantalupo g. Epilepsia Open. 2024 Dec;9(6):2186-2197. doi: 10.1002/epi4.13042. Epub 2024 Oct 3. Epilepsia Open. 2024. PMID: 39361253 Free PMC article.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Musto E, Liao VWY, Johannesen KM, Fenger CD, Lederer D, Kothur K, Fisk K, Bennetts B, Vrielynck P, Delaby D, Ceulemans B, Weckhuysen S, Sparber P, Bouman A, Ardern-Holmes S, Troedson C, Battaglia DI, Goel H, Feyma T, Bakhtiari S, Tjoa L, Boxill M, Demina N, Shchagina O, Dadali E, Kruer M, Cantalupo G, Contaldo I, Polster T, Isidor B, Bova SM, Fazeli W, Wouters L, Miranda MJ, Darra F, Pede E, Le Duc D, Jamra RA, Küry S, Proietti J, McSweeney N, Brokamp E, Andrews PI, Gouray Garcia M, Chebib M, Møller RS, Ahring PK, Gardella E. Musto E, et al. Among authors: cantalupo g. Ann Neurol. 2023 Aug 22. doi: 10.1002/ana.26774. Online ahead of print. Ann Neurol. 2023. PMID: 37606373
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
Cuccurullo C, Cerulli Irelli E, Ugga L, Riva A, D'Amico A, Cabet S, Lesca G, Bilo L, Zara F, Iliescu C, Barca D, Fung F, Helbig K, Ortiz-Gonzalez X, Schelhaas HJ, Willemsen MH, van der Linden I, Canafoglia L, Courage C, Gommaraschi S, Gonzalez-Alegre P, Bardakjian T, Syrbe S, Schuler E, Lemke JR, Vari S, Roende G, Bak M, Huq M, Powis Z, Johannesen KM, Hammer TB, Møller RS, Rabin R, Pappas J, Zupanc ML, Zadeh N, Cohen J, Naidu S, Krey I, Saneto R, Thies J, Licchetta L, Tinuper P, Bisulli F, Minardi R, Bayat A, Villeneuve N, Molinari F, Salimi Dafsari H, Moller B, Le Roux M, Houdayer C, Vecchi M, Mammi I, Fiorini E, Proietti J, Ferri S, Cantalupo G, Battaglia DI, Gambardella ML, Contaldo I, Brogna C, Trivisano M, De Dominicis A, Bova SM, Gardella E, Striano P, Coppola A. Cuccurullo C, et al. Among authors: cantalupo g. Epilepsia. 2024 Sep;65(9):2728-2750. doi: 10.1111/epi.18054. Epub 2024 Jul 2. Epilepsia. 2024. PMID: 38953796
Epilepsy features in ARID1B-related Coffin-Siris syndrome.
Proietti J, Amadori E, Striano P, Ricci E, Cordelli DM, Bana C, Dilena R, Gardella E, Klint Nielsen JE, Pisani F, Lo Barco T, Fiorini E, Fontana E, Darra F, Dalla Bernardina B, Cantalupo G. Proietti J, et al. Among authors: cantalupo g. Epileptic Disord. 2021 Dec 1;23(6):865-874. doi: 10.1684/epd.2021.1356. Epileptic Disord. 2021. PMID: 34730517
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, Chiesa V, Christensen J, Dalla Bernardina B, Ellis CA, Furia F, Gardiner F, Giron C, Guerrini R, Klein KM, Korff C, Krijtova H, Leffler M, Lerche H, Lesca G, Lewis-Smith D, Marini C, Marjanovic D, Mazzola L, McKeown Ruggiero S, Mochel F, Ramond F, Reif PS, Richard-Mornas A, Rosenow F, Schropp C, Thomas RH, Vignoli A, Weber Y, Palmer E, Helbig I, Scheffer IE, Striano P, Møller RS, Gardella E, Weckhuysen S. Stamberger H, et al. Among authors: cantalupo g. Neurology. 2022 Jul 19;99(3):e221-e233. doi: 10.1212/WNL.0000000000200715. Epub 2022 Jun 3. Neurology. 2022. PMID: 35851549 Free PMC article.
Adaptive behaviour in adolescents and adults with Dravet syndrome.
Lo Barco T, Offredi F, Castino E, Proietti J, Cossu A, Fiorini E, Fontana E, Cantalupo G, Dalla Bernardina B, Darra F. Lo Barco T, et al. Among authors: cantalupo g. Dev Med Child Neurol. 2023 Jun;65(6):838-846. doi: 10.1111/dmcn.15448. Epub 2022 Oct 31. Dev Med Child Neurol. 2023. PMID: 36316303 Free article.
135 results