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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: messina g. Epilepsia. 2023 Jul;64(7):e148-e155. doi: 10.1111/epi.17656. Epub 2023 Jun 2. Epilepsia. 2023. PMID: 37203213
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.
Soldovieri MV, Freri E, Ambrosino P, Rivolta I, Mosca I, Binda A, Murano C, Ragona F, Canafoglia L, Vannicola C, Solazzi R, Granata T, Castellotti B, Messina G, Gellera C, Labalme A, Lesca G, DiFrancesco JC, Taglialatela M. Soldovieri MV, et al. Among authors: messina g. Pharmacol Res. 2020 Oct;160:105200. doi: 10.1016/j.phrs.2020.105200. Epub 2020 Sep 15. Pharmacol Res. 2020. PMID: 32942014 Free article.
SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonus.
Canafoglia L, Franceschetti S, Granata T, Messina G, Solazzi R, Ragona F, Freri E, Scaioli V, Nardocci N, Gellera C, Panzica F, DiFrancesco JC, Castellotti B. Canafoglia L, et al. Among authors: messina g. Seizure. 2020 Nov;82:56-58. doi: 10.1016/j.seizure.2020.09.011. Epub 2020 Sep 23. Seizure. 2020. PMID: 33007625 Free article. No abstract available.
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: messina g. 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: messina g. 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 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: messina g. 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: messina g. 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.
Liver steatosis in patients with transfusion-dependent thalassaemia.
Ricchi P, Pistoia L, Positano V, Spasiano A, Casini T, Putti MC, Borsellino Z, Cossu A, Messina G, Keilberg P, Fatigati C, Costantini S, Renne S, Peritore G, Cademartiri F, Meloni A. Ricchi P, et al. Among authors: messina g. Br J Haematol. 2024 Apr 29. doi: 10.1111/bjh.19496. Online ahead of print. Br J Haematol. 2024. PMID: 38685724
965 results