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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: prevostini r. Epilepsia. 2023 Dec;64(12):e222-e228. doi: 10.1111/epi.17777. Epub 2023 Oct 7. Epilepsia. 2023. PMID: 37746765
Striatin knock out induces a gain of function of INa and impaired Ca2+ handling in mESC-derived cardiomyocytes.
Benzoni P, Arici M, Giannetti F, Cospito A, Prevostini R, Volani C, Fassina L, Rosato-Siri MD, Metallo A, Gennaccaro L, Suffredini S, Foco L, Mazzetti S, Calogero A, Cappelletti G, Leibbrandt A, Elling U, Broso F, Penninger JM, Pramstaller PP, Piubelli C, Bucchi A, Baruscotti M, Rossini A, Rocchetti M, Barbuti A. Benzoni P, et al. Among authors: prevostini r. Acta Physiol (Oxf). 2024 May 15:e14160. doi: 10.1111/apha.14160. Online ahead of print. Acta Physiol (Oxf). 2024. PMID: 38747650
Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.
Frosio A, Micaglio E, Polsinelli I, Calamaio S, Melgari D, Prevostini R, Ghiroldi A, Binda A, Carrera P, Villa M, Mastrocinque F, Presi S, Salerno R, Boccellino A, Anastasia L, Ciconte G, Ricagno S, Pappone C, Rivolta I. Frosio A, et al. Among authors: prevostini r. Int J Mol Sci. 2023 Oct 11;24(20):15089. doi: 10.3390/ijms242015089. Int J Mol Sci. 2023. PMID: 37894777 Free PMC article.