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69 results

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Page 1
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. Marini C, et al. Among authors: rivolta i. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263. Brain. 2018. PMID: 30351409 Free article.
SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.
Bugiardini E, Rivolta I, Binda A, Soriano Caminero A, Cirillo F, Cinti A, Giovannoni R, Botta A, Cardani R, Wicklund MP, Meola G. Bugiardini E, et al. Among authors: rivolta i. Neuromuscul Disord. 2015 Apr;25(4):301-7. doi: 10.1016/j.nmd.2015.01.006. Epub 2015 Jan 21. Neuromuscul Disord. 2015. PMID: 25660391
The expression of the rare caveolin-3 variant T78M alters cardiac ion channels function and membrane excitability.
Campostrini G, Bonzanni M, Lissoni A, Bazzini C, Milanesi R, Vezzoli E, Francolini M, Baruscotti M, Bucchi A, Rivolta I, Fantini M, Severi S, Cappato R, Crotti L, J Schwartz P, DiFrancesco D, Barbuti A. Campostrini G, et al. Among authors: rivolta i. Cardiovasc Res. 2017 Aug 1;113(10):1256-1265. doi: 10.1093/cvr/cvx122. Cardiovasc Res. 2017. PMID: 28898996 Free PMC article.
A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability.
Bonzanni M, DiFrancesco JC, Milanesi R, Campostrini G, Castellotti B, Bucchi A, Baruscotti M, Ferrarese C, Franceschetti S, Canafoglia L, Ragona F, Freri E, Labate A, Gambardella A, Costa C, Rivolta I, Gellera C, Granata T, Barbuti A, DiFrancesco D. Bonzanni M, et al. Among authors: rivolta i. Neurobiol Dis. 2018 Oct;118:55-63. doi: 10.1016/j.nbd.2018.06.012. Epub 2018 Jun 21. Neurobiol Dis. 2018. PMID: 29936235 Free article.
SCN4A as modifier gene in patients with myotonic dystrophy type 2.
Binda A, Renna LV, Bosè F, Brigonzi E, Botta A, Valaperta R, Fossati B, Rivolta I, Meola G, Cardani R. Binda A, et al. Among authors: rivolta i. Sci Rep. 2018 Jul 23;8(1):11058. doi: 10.1038/s41598-018-29302-z. Sci Rep. 2018. PMID: 30038349 Free PMC article.
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: rivolta i. 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.
Cardiac and neuronal HCN channelopathies.
Rivolta I, Binda A, Masi A, DiFrancesco JC. Rivolta I, et al. Pflugers Arch. 2020 Jul;472(7):931-951. doi: 10.1007/s00424-020-02384-3. Epub 2020 May 18. Pflugers Arch. 2020. PMID: 32424620 Review.
69 results