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SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF. Dibbens LM, et al. Among authors: canafoglia l. Ann Neurol. 2009 Oct;66(4):532-6. doi: 10.1002/ana.21765. Ann Neurol. 2009. PMID: 19847901
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
Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.
Solazzi R, Nanni G, Esposito S, Estienne M, Freri E, Zibordi F, Canafoglia L, Castellotti B, Granata T. Solazzi R, et al. Among authors: canafoglia l. Pediatr Neurol. 2023 Oct;147:24-27. doi: 10.1016/j.pediatrneurol.2023.06.012. Epub 2023 Jun 22. Pediatr Neurol. 2023. PMID: 37542971
A real-world comparison among third-generation antiseizure medications: Results from the COMPARE study.
Roberti R, Di Gennaro G, Anzellotti F, Arnaldi D, Belcastro V, Beretta S, Boero G, Bonanni P, Canafoglia L, D'Aniello A, Dainese F, De Caro C, Di Gennaro G, Di Giacomo R, DiFrancesco JC, Dono F, Falcicchio G, Ferlazzo E, Foschi N, Franciotta S, Gambardella A, Giordano A, Iannone LF, Labate A, La Neve A, Lattanzi S, Leggio U, Liguori C, Maschio M, Nilo A, Operto FF, Pascarella A, Pauletto G, Renna R, Strigaro G; COMPARE Study Group; Russo E. Roberti R, et al. Among authors: canafoglia l. Epilepsia. 2024 Feb;65(2):456-472. doi: 10.1111/epi.17843. Epub 2023 Dec 16. Epilepsia. 2024. PMID: 38052481
Adjunctive brivaracetam and sustained seizure frequency reduction in very active focal epilepsy.
Lattanzi S, Canafoglia L, Canevini MP, Casciato S, Cerulli Irelli E, 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; BRIVAFIRST (Brivaracetam Add‐On First Italian Network Study) Group Membership. Lattanzi S, et al. Among authors: canafoglia l. Epilepsia. 2023 Nov;64(11):2922-2933. doi: 10.1111/epi.17740. Epub 2023 Sep 9. Epilepsia. 2023. PMID: 38079181 Free article.
Pathological 25 kDa C-Terminal Fragments of TDP-43 Are Present in Lymphoblastoid Cell Lines and Extracellular Vesicles from Patients Affected by Frontotemporal Lobar Degeneration and Neuronal Ceroidolipofuscinosis Carrying a GRN Mutation.
Cimini S, Bellini S, Saraceno C, Benussi L, Ghidoni R, Giliani SC, Puoti G, Canafoglia L, Giaccone G, Rossi G. Cimini S, et al. Among authors: canafoglia l. Int J Mol Sci. 2022 Nov 9;23(22):13753. doi: 10.3390/ijms232213753. Int J Mol Sci. 2022. PMID: 36430231 Free PMC article.
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome.
Ciaccio C, Pantaleoni C, Moscatelli M, Chiapparini L, Nigro V, Valente EM, Sciacca F, Canafoglia L, Bulgheroni S, D'Arrigo S. Ciaccio C, et al. Among authors: canafoglia l. Neurol Genet. 2023 Jan 23;9(2):e200049. doi: 10.1212/NXG.0000000000200049. eCollection 2023 Apr. Neurol Genet. 2023. PMID: 37090941 Free PMC article.
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
173 results