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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: milanesi r. 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.
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: milanesi r. 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.
HCN-related channelopathies.
Baruscotti M, Bottelli G, Milanesi R, DiFrancesco JC, DiFrancesco D. Baruscotti M, et al. Among authors: milanesi r. 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: milanesi r. J Neurosci. 2011 Nov 30;31(48):17327-37. doi: 10.1523/JNEUROSCI.3727-11.2011. J Neurosci. 2011. PMID: 22131395 Free PMC article.
58 results