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31 results

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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: solazzi r. Epilepsia. 2023 Jul;64(7):e148-e155. doi: 10.1111/epi.17656. Epub 2023 Jun 2. Epilepsia. 2023. PMID: 37203213
Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients.
Lamperti C, Invernizzi F, Solazzi R, Freri E, Carella F, Zeviani M, Zibordi F, Fusco C, Zorzi G, Granata T, Garavaglia B, Nardocci N. Lamperti C, et al. Among authors: solazzi r. Eur J Paediatr Neurol. 2016 Jan;20(1):152-7. doi: 10.1016/j.ejpn.2015.08.006. Epub 2015 Sep 3. Eur J Paediatr Neurol. 2016. PMID: 26384010
Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.
Castellotti B, Ragona F, Freri E, Solazzi R, Ciardullo S, Tricomi G, Venerando A, Salis B, Canafoglia L, Villani F, Franceschetti S, Nardocci N, Gellera C, DiFrancesco JC, Granata T. Castellotti B, et al. Among authors: solazzi r. J Neurol. 2019 Jun;266(6):1439-1448. doi: 10.1007/s00415-019-09280-6. Epub 2019 Mar 20. J Neurol. 2019. PMID: 30895386
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.
DiFrancesco JC, Castellotti B, Milanesi R, Ragona F, Freri E, Canafoglia L, Franceschetti S, Ferrarese C, Magri S, Taroni F, Costa C, Labate A, Gambardella A, Solazzi R, Binda A, Rivolta I, Di Gennaro G, Casciato S, D'Incerti L, Barbuti A, DiFrancesco D, Granata T, Gellera C. DiFrancesco JC, et al. Among authors: solazzi r. Epilepsy Res. 2019 Jul;153:49-58. doi: 10.1016/j.eplepsyres.2019.04.004. Epub 2019 Apr 8. Epilepsy Res. 2019. PMID: 30986657 Review.
Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis.
Nosadini M, Granata T, Matricardi S, Freri E, Ragona F, Papetti L, Suppiej A, Valeriani M, Sartori S; Italian Working Group on Paediatric Anti-N-methyl-D-aspartate Receptor Encephalitis. Nosadini M, et al. Dev Med Child Neurol. 2019 Sep;61(9):1101-1107. doi: 10.1111/dmcn.14267. Epub 2019 Jun 7. Dev Med Child Neurol. 2019. PMID: 31175679 Free 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: solazzi r. Epileptic Disord. 2020 Apr 1;22(2):233-236. doi: 10.1684/epd.2020.1150. Epileptic Disord. 2020. PMID: 32301727
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: solazzi r. 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: solazzi r. 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.
31 results