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21 results

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Page 1
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: gambardella ml. Epilepsia. 2024 Dec 30. doi: 10.1111/epi.18241. Online ahead of print. Epilepsia. 2024. PMID: 39740232
Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.
Musto E, Gambardella ML, Perulli M, Quintiliani M, Veredice C, Verdolotti T, Berté G, Leoni C, Onesimo R, Pulitanò SM, Tartaglia M, Zampino G, Contaldo I, Battaglia DI. Musto E, et al. Among authors: gambardella ml. Epilepsia Open. 2024 Feb;9(1):258-267. doi: 10.1002/epi4.12864. Epub 2023 Dec 20. Epilepsia Open. 2024. PMID: 37943120 Free PMC article.
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: gambardella ml. Epilepsia. 2024 Sep;65(9):2728-2750. doi: 10.1111/epi.18054. Epub 2024 Jul 2. Epilepsia. 2024. PMID: 38953796
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.
Mei D, Balestrini S, Parrini E, Gambardella A, Annesi G, De Giorgis V, Gana S, Bassi MT, Zucca C, Elia M, Vetri L, Castellotti B, Ragona F, Mastrangelo M, Pisani F, d'Orsi G, Carella M, Pruna D, Giglio S, Marini C, Cesaroni E, Riva A, Scala M, Licchetta L, Minardi R, Contaldo I, Gambardella ML, Cossu A, Proietti J, Cantalupo G; LICE Collaborative Group; Trivisano M, De Dominicis A, Specchio N, Tassi L, Guerrini R. Mei D, et al. Among authors: gambardella ml. J Med Genet. 2024 Dec 31;62(1):25-31. doi: 10.1136/jmg-2024-110328. J Med Genet. 2024. PMID: 39613335 Free article.
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Battaglia DI, Gambardella ML, Veltri S, Contaldo I, Chillemi G, Veredice C, Quintiliani M, Leoni C, Onesimo R, Verdolotti T, Radio FC, Martinelli D, Trivisano M, Specchio N, Dravet C, Tartaglia M, Zampino G. Battaglia DI, et al. Among authors: gambardella ml. Genes (Basel). 2021 Aug 26;12(9):1316. doi: 10.3390/genes12091316. Genes (Basel). 2021. PMID: 34573299 Free PMC article.
Disorders of early language development in Dravet syndrome.
Chieffo D, Battaglia D, Lucibello S, Gambardella ML, Moriconi F, Ferrantini G, Leo G, Dravet C, Mercuri E, Guzzetta F. Chieffo D, et al. Among authors: gambardella ml. Epilepsy Behav. 2016 Jan;54:30-3. doi: 10.1016/j.yebeh.2015.10.027. Epub 2015 Nov 26. Epilepsy Behav. 2016. PMID: 26630186
Heart rate variability alterations in Dravet Syndrome: The role of status epilepticus and a possible association with mortality risk.
Perulli M, Battista A, Sivo S, Turrini I, Musto E, Quintiliani M, Gambardella ML, Contaldo I, Veredice C, Mercuri EM, Lanza GA, Dravet C, Delogu AB, Battaglia DI. Perulli M, et al. Among authors: gambardella ml. Seizure. 2022 Jan;94:129-135. doi: 10.1016/j.seizure.2021.11.023. Epub 2021 Nov 27. Seizure. 2022. PMID: 34896816 Free article.
Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case-control study by quantitative magnetic resonance imaging.
Calandrelli R, Pilato F, Panfili M, Battaglia D, Gambardella ML, Colosimo C. Calandrelli R, et al. Among authors: gambardella ml. Neuroradiology. 2022 Jan;64(1):185-195. doi: 10.1007/s00234-021-02769-w. Epub 2021 Jul 26. Neuroradiology. 2022. PMID: 34309696
Survey of rehabilitation approaches and plans for individuals with dravet syndrome (RAPIDS) in Italy: Current practices and strategies to progress.
Porto C, Perulli M, Arpaia C, Villa M, Arcangeli V, Quintiliani M, Gambardella ML, Brando C, Contaldo I, Veredice C, Zaghi V, Canepa G, Borroni S, Chieffo DPR, Battaglia DI. Porto C, et al. Among authors: gambardella ml. Epilepsy Behav. 2024 Aug;157:109888. doi: 10.1016/j.yebeh.2024.109888. Epub 2024 Jul 10. Epilepsy Behav. 2024. PMID: 38991471 Free article.
Visual Function in Children with GNAO1-Related Encephalopathy.
Gambardella ML, Pede E, Orazi L, Leone S, Quintiliani M, Amorelli GM, Petrianni M, Galanti M, Amore F, Musto E, Perulli M, Contaldo I, Veredice C, Mercuri EM, Battaglia DI, Ricci D. Gambardella ML, et al. Genes (Basel). 2023 Feb 22;14(3):544. doi: 10.3390/genes14030544. Genes (Basel). 2023. PMID: 36980817 Free PMC article.
21 results