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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: barbuti a. Epilepsia. 2023 Dec;64(12):e222-e228. doi: 10.1111/epi.17777. Epub 2023 Oct 7. Epilepsia. 2023. PMID: 37746765
Interaction of the pacemaker channel HCN1 with filamin A.
Gravante B, Barbuti A, Milanesi R, Zappi I, Viscomi C, DiFrancesco D. Gravante B, et al. Among authors: barbuti a. J Biol Chem. 2004 Oct 15;279(42):43847-53. doi: 10.1074/jbc.M401598200. Epub 2004 Jul 30. J Biol Chem. 2004. PMID: 15292205 Free article.
Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy.
DiFrancesco JC, Barbuti A, Milanesi R, Coco S, Bucchi A, Bottelli G, Ferrarese C, Franceschetti S, Terragni B, Baruscotti M, DiFrancesco D. DiFrancesco JC, et al. Among authors: barbuti a. J Neurosci. 2011 Nov 30;31(48):17327-37. doi: 10.1523/JNEUROSCI.3727-11.2011. J Neurosci. 2011. PMID: 22131395 Free PMC article.
Acetylation mediates Cx43 reduction caused by electrical stimulation.
Meraviglia V, Azzimato V, Colussi C, Florio MC, Binda A, Panariti A, Qanud K, Suffredini S, Gennaccaro L, Miragoli M, Barbuti A, Lampe PD, Gaetano C, Pramstaller PP, Capogrossi MC, Recchia FA, Pompilio G, Rivolta I, Rossini A. Meraviglia V, et al. Among authors: barbuti a. J Mol Cell Cardiol. 2015 Oct;87:54-64. doi: 10.1016/j.yjmcc.2015.08.001. Epub 2015 Aug 8. J Mol Cell Cardiol. 2015. PMID: 26264759 Free PMC article.
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: barbuti a. 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: barbuti a. 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.
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability.
Campostrini G, DiFrancesco JC, Castellotti B, Milanesi R, Gnecchi-Ruscone T, Bonzanni M, Bucchi A, Baruscotti M, Ferrarese C, Franceschetti S, Canafoglia L, Ragona F, Freri E, Labate A, Gambardella A, Costa C, Gellera C, Granata T, Barbuti A, DiFrancesco D. Campostrini G, et al. Among authors: barbuti a. Front Mol Neurosci. 2018 Aug 6;11:269. doi: 10.3389/fnmol.2018.00269. eCollection 2018. Front Mol Neurosci. 2018. PMID: 30127718 Free PMC article.
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: barbuti a. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263. Brain. 2018. PMID: 30351409 Free article.
79 results