Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

69 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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: rivolta i. Epilepsia. 2023 Jul;64(7):e148-e155. doi: 10.1111/epi.17656. Epub 2023 Jun 2. Epilepsia. 2023. PMID: 37203213
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: rivolta i. Epilepsia. 2023 Dec;64(12):e222-e228. doi: 10.1111/epi.17777. Epub 2023 Oct 7. Epilepsia. 2023. PMID: 37746765
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: rivolta i. Int J Mol Sci. 2023 Oct 11;24(20):15089. doi: 10.3390/ijms242015089. Int J Mol Sci. 2023. PMID: 37894777 Free PMC article.
Alterations of the Sialylation Machinery in Brugada Syndrome.
Ghiroldi A, Ciconte G, Creo P, Tarantino A, Melgari D, D'Imperio S, Piccoli M, Cirillo F, Micaglio E, Monasky MM, Frosio A, Locati ET, Vicedomini G, Rivolta I, Pappone C, Anastasia L. Ghiroldi A, et al. Among authors: rivolta i. Int J Mol Sci. 2022 Oct 29;23(21):13154. doi: 10.3390/ijms232113154. Int J Mol Sci. 2022. PMID: 36361941 Free PMC article.
T-Type Calcium Channels: A Mixed Blessing.
Melgari D, Frosio A, Calamaio S, Marzi GA, Pappone C, Rivolta I. Melgari D, et al. Among authors: rivolta i. Int J Mol Sci. 2022 Aug 31;23(17):9894. doi: 10.3390/ijms23179894. Int J Mol Sci. 2022. PMID: 36077291 Free PMC article. Review.
Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes.
Mosca I, Rivolta I, Labalme A, Ambrosino P, Castellotti B, Gellera C, Granata T, Freri E, Binda A, Lesca G, DiFrancesco JC, Soldovieri MV, Taglialatela M. Mosca I, et al. Among authors: rivolta i. Front Pharmacol. 2022 Jun 13;13:872645. doi: 10.3389/fphar.2022.872645. eCollection 2022. Front Pharmacol. 2022. PMID: 35770094 Free PMC article.
69 results