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Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.
Lonardo F, Perone L, Maioli M, Ciavarella M, Ciccone R, Monica MD, Lombardi C, Forino L, Cantalupo G, Masella L, Scarano F. Lonardo F, et al. Among authors: cantalupo g. Am J Med Genet A. 2011 Apr;155A(4):769-77. doi: 10.1002/ajmg.a.33852. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416588 Review.
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: cantalupo g. J Med Genet. 2024 Dec 31;62(1):25-31. doi: 10.1136/jmg-2024-110328. J Med Genet. 2024. PMID: 39613335 Free article.
Effectiveness of sodium channel blockers in treating neonatal seizures due to arterial ischemic stroke.
Pegoraro V, Viellevoye R, Malfilatre G, Dilena R, Proietti J, Mauro I, Zardini C, Dzietko M, Lacan L, Desnous B, Cordelli DM, Campi F, Da Silva MR, Fumagalli M, Nguyen The Tich S, Felderhoff-Müser U, Ventura G, Sartori S, Benders M, Pittini C, Cavicchiolo ME, Milh M, Cantalupo G, van Maanen A, Tataranno ML, Cilio MR. Pegoraro V, et al. Among authors: cantalupo g. Epilepsia. 2024 Nov 23. doi: 10.1111/epi.18194. Online ahead of print. Epilepsia. 2024. PMID: 39579039
A Reappraisal on cortical myoclonus and brief Remarks on myoclonus of different Origins.
Canafoglia L, Meletti S, Bisulli F, Alvisi L, Assenza G, d'Orsi G, Dubbioso R, Ferlazzo E, Ferri L, Franceschetti S, Gambardella A, Granvillano A, Licchetta L, Nucera B, Panzica F, Perulli M, Provini F, Rubboli G, Strigaro G, Suppa A, Tartara E, Cantalupo G. Canafoglia L, et al. Among authors: cantalupo g. Clin Neurophysiol Pract. 2024 Oct 22;9:266-278. doi: 10.1016/j.cnp.2024.10.001. eCollection 2024. Clin Neurophysiol Pract. 2024. PMID: 39559741 Free PMC article. Review.
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.
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients' Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus.
Spagnoli C, Battini R, Manti F, Cordelli DM, Pession A, Bellini M, Bordugo A, Cantalupo G, Riva A, Striano P, Spada M, Porta F, Fusco C. Spagnoli C, et al. Among authors: cantalupo g. Behav Neurol. 2024 Apr 9;2024:1023861. doi: 10.1155/2024/1023861. eCollection 2024. Behav Neurol. 2024. PMID: 39280026 Free PMC article.
135 results