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CLN6-related continuum phenotype caused by aberrant splicing.
Invernizzi F, Castellotti B, Reale C, Panteghini C, Colangelo I, Solazzi R, Ragona F, Giordano L, Galli J, Rossi Sebastiano D, Marucci G, Cuccarini V, Didato G, Gellera C, Garavaglia B, Granata T, Canafoglia L. Invernizzi F, et al. Among authors: canafoglia l. Epilepsia Open. 2024 Dec 24. doi: 10.1002/epi4.13119. Online ahead of print. Epilepsia Open. 2024. PMID: 39718800 Free article.
Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach.
Castellotti B, Ragona F, Freri E, Messina G, Magri S, Previtali R, Solazzi R, Franceschetti S, Taroni F, Canafoglia L, Gellera C, Granata T, DiFrancesco JC. Castellotti B, et al. Among authors: canafoglia l. Epilepsia Open. 2024 Oct;9(5):1922-1930. doi: 10.1002/epi4.13039. Epub 2024 Aug 31. Epilepsia Open. 2024. PMID: 39215763 Free PMC article.
Early Parkinsonism in a Senegalese girl with Lafora disease.
Ragona F, Canafoglia L, Castellotti B, Solazzi R, Gabbiadini S, Freri E, Scaioli V, DiFrancesco JC, Gellera C, Granata T. Ragona F, et al. Among authors: canafoglia l. Epileptic Disord. 2020 Apr 1;22(2):233-236. doi: 10.1684/epd.2020.1150. Epileptic Disord. 2020. PMID: 32301727
Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy.
Solazzi R, Castellotti B, Canafoglia L, Messina G, Magri S, Freri E, Ragona F, Franceschetti S, Di Francesco JC, Gellera C, Granata T. Solazzi R, et al. Among authors: canafoglia l. Epileptic Disord. 2021 Aug 1;23(4):643-647. doi: 10.1684/epd.2021.1305. Epileptic Disord. 2021. PMID: 34259158
Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.
Castellotti B, Canafoglia L, Freri E, Tappatà M, Messina G, Magri S, DiFrancesco JC, Fanella M, Di Bonaventura C, Morano A, Granata T, Gellera C, Franceschetti S, Michelucci R. Castellotti B, et al. Among authors: canafoglia l. Epilepsia Open. 2023 Jun;8(2):645-650. doi: 10.1002/epi4.12697. Epub 2023 Feb 9. Epilepsia Open. 2023. PMID: 36719163 Free PMC article.
A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.
Ambrosino P, Ragona F, Mosca I, Vannicola C, Canafoglia L, Solazzi R, Rivolta I, Freri E, Granata T, Messina G, Castellotti B, Gellera C, Soldovieri MV, DiFrancesco JC, Taglialatela M. Ambrosino P, et al. Among authors: canafoglia l. Epilepsia. 2023 Jul;64(7):e148-e155. doi: 10.1111/epi.17656. Epub 2023 Jun 2. Epilepsia. 2023. PMID: 37203213
A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.
DiFrancesco JC, Ragona F, Murano C, Frosio A, Melgari D, Binda A, Calamaio S, Prevostini R, Mauri M, Canafoglia L, Castellotti B, Messina G, Gellera C, Previtali R, Veggiotti P, Milanesi R, Barbuti A, Solazzi R, Freri E, Granata T, Rivolta I. DiFrancesco JC, et al. Among authors: canafoglia l. Epilepsia. 2023 Dec;64(12):e222-e228. doi: 10.1111/epi.17777. Epub 2023 Oct 7. Epilepsia. 2023. PMID: 37746765
Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy.
Mosca I, Freri E, Ambrosino P, Belperio G, Granata T, Canafoglia L, Ragona F, Solazzi R, Filareto I, Castellotti B, Messina G, Gellera C, DiFrancesco JC, Soldovieri MV, Taglialatela M. Mosca I, et al. Among authors: canafoglia l. Front Cell Neurosci. 2024 Apr 4;18:1367838. doi: 10.3389/fncel.2024.1367838. eCollection 2024. Front Cell Neurosci. 2024. PMID: 38644974 Free PMC article.
Focal negative motor seizures: Multimodal evaluation.
Di Giacomo R, Colombo R, Canafoglia L, Duran D, Pastori C, Stabile A, Battaglia G, Didato G, Cuccarini V, Deleo F, Dominese A, de Curtis M, Rossi Sebastiano D. Di Giacomo R, et al. Among authors: canafoglia l. Epilepsia. 2025 Jan;66(1):e14-e20. doi: 10.1111/epi.18191. Epub 2024 Nov 22. Epilepsia. 2025. PMID: 39576184
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
Canafoglia L, Gennaro E, Capovilla G, Gobbi G, Boni A, Beccaria F, Viri M, Michelucci R, Agazzi P, Assereto S, Coviello DA, Di Stefano M, Rossi Sebastiano D, Franceschetti S, Zara F. Canafoglia L, et al. Epilepsia. 2012 Dec;53(12):2120-7. doi: 10.1111/j.1528-1167.2012.03718.x. Epilepsia. 2012. PMID: 23205931 Free article.
173 results