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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: difrancesco d, difrancesco jc. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263. Brain. 2018. PMID: 30351409 Free article.
HCN-related channelopathies.
Baruscotti M, Bottelli G, Milanesi R, DiFrancesco JC, DiFrancesco D. Baruscotti M, et al. Among authors: difrancesco d, difrancesco jc. Pflugers Arch. 2010 Jul;460(2):405-15. doi: 10.1007/s00424-010-0810-8. Epub 2010 Mar 8. Pflugers Arch. 2010. PMID: 20213494 Review.
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: difrancesco d. J Neurosci. 2011 Nov 30;31(48):17327-37. doi: 10.1523/JNEUROSCI.3727-11.2011. J Neurosci. 2011. PMID: 22131395 Free PMC article.
Dysfunctional HCN ion channels in neurological diseases.
DiFrancesco JC, DiFrancesco D. DiFrancesco JC, et al. Among authors: difrancesco d. Front Cell Neurosci. 2015 Mar 10;6:174. doi: 10.3389/fncel.2015.00071. eCollection 2015. Front Cell Neurosci. 2015. PMID: 25805968 Free PMC article.
Corrigendum to "Advanced morphological neuroimaging study in lateral temporal lobe epilepsy: A multicentric study" [Epilepsy Behav 74 (2017) Pages 69-72].
Vasta R, Sarica A, Bisulli F, Di Gennaro G, D'Aniello A, Difrancesco JC, Canafoglia L, Casazza M, Franceschetti S, Stipa C, Tinuper P, Mumoli L, Gambardella A, Labate A. Vasta R, et al. Among authors: difrancesco jc. Epilepsy Behav. 2017 Dec;77:114. doi: 10.1016/j.yebeh.2017.11.011. Epilepsy Behav. 2017. PMID: 29173952 No abstract available.
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: difrancesco jc. Mol Neurobiol. 2018 Aug;55(8):7009-7024. doi: 10.1007/s12035-018-0883-5. Epub 2018 Jan 30. Mol Neurobiol. 2018. PMID: 29383681
84 results