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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: mosca i. Epilepsia. 2023 Jul;64(7):e148-e155. doi: 10.1111/epi.17656. Epub 2023 Jun 2. Epilepsia. 2023. PMID: 37203213
Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin.
Ambrosino P, Alaimo A, Bartollino S, Manocchio L, De Maria M, Mosca I, Gomis-Perez C, Alberdi A, Scambia G, Lesca G, Villarroel A, Taglialatela M, Soldovieri MV. Ambrosino P, et al. Among authors: mosca i. Biochim Biophys Acta. 2015 Sep;1852(9):1856-66. doi: 10.1016/j.bbadis.2015.06.012. Epub 2015 Jun 12. Biochim Biophys Acta. 2015. PMID: 26073431 Free article.
Effects of natural and synthetic isothiocyanate-based H2S-releasers against chemotherapy-induced neuropathic pain: Role of Kv7 potassium channels.
Di Cesare Mannelli L, Lucarini E, Micheli L, Mosca I, Ambrosino P, Soldovieri MV, Martelli A, Testai L, Taglialatela M, Calderone V, Ghelardini C. Di Cesare Mannelli L, et al. Among authors: mosca i. Neuropharmacology. 2017 Jul 15;121:49-59. doi: 10.1016/j.neuropharm.2017.04.029. Epub 2017 Apr 19. Neuropharmacology. 2017. PMID: 28431970
Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating.
Ambrosino P, Freri E, Castellotti B, Soldovieri MV, Mosca I, Manocchio L, Gellera C, Canafoglia L, Franceschetti S, Salis B, Iraci N, Miceli F, Ragona F, Granata T, DiFrancesco JC, Taglialatela M. Ambrosino P, et al. Among authors: mosca i. Mol Neurobiol. 2018 Aug;55(8):7009-7024. doi: 10.1007/s12035-018-0883-5. Epub 2018 Jan 30. Mol Neurobiol. 2018. PMID: 29383681
Identification of a Potent Tryptophan-Based TRPM8 Antagonist With in Vivo Analgesic Activity.
Bertamino A, Iraci N, Ostacolo C, Ambrosino P, Musella S, Di Sarno V, Ciaglia T, Pepe G, Sala M, Soldovieri MV, Mosca I, Gonzalez-Rodriguez S, Fernandez-Carvajal A, Ferrer-Montiel A, Novellino E, Taglialatela M, Campiglia P, Gomez-Monterrey I. Bertamino A, et al. Among authors: mosca i. J Med Chem. 2018 Jul 26;61(14):6140-6152. doi: 10.1021/acs.jmedchem.8b00545. Epub 2018 Jul 10. J Med Chem. 2018. PMID: 29939028
Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.
Dilena R, DiFrancesco JC, Soldovieri MV, Giacobbe A, Ambrosino P, Mosca I, Galli MA, Guez S, Fumagalli M, Miceli F, Cattaneo D, Darra F, Gennaro E, Zara F, Striano P, Castellotti B, Gellera C, Varesio C, Veggiotti P, Taglialatela M. Dilena R, et al. Among authors: mosca i. Neurotherapeutics. 2018 Oct;15(4):1112-1126. doi: 10.1007/s13311-018-0657-9. Neurotherapeutics. 2018. PMID: 30112700 Free PMC article.
64 results