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2008 1
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14 results

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Page 1
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Cioclu MC, Mosca I, Ambrosino P, Puzo D, Bayat A, Wortmann SB, Koch J, Strehlow V, Shirai K, Matsumoto N, Sanders SJ, Michaud V, Legendre M, Riva A, Striano P, Muhle H, Pendziwiat M, Lesca G, Mangano GD, Nardello R; KCNT2-study group; Lemke JR, Møller RS, Soldovieri MV, Rubboli G, Taglialatela M. Cioclu MC, et al. Ann Neurol. 2023 Aug;94(2):332-349. doi: 10.1002/ana.26662. Epub 2023 May 22. Ann Neurol. 2023. PMID: 37062836
De novo variants in KCNA3 cause developmental and epileptic encephalopathy.
Soldovieri MV, Ambrosino P, Mosca I, Servettini I, Pietrunti F, Belperio G; KCNA3 study group; Syrbe S, Taglialatela M, Lemke JR. Soldovieri MV, et al. Among authors: servettini i. Ann Neurol. 2024 Feb;95(2):365-376. doi: 10.1002/ana.26826. Epub 2023 Dec 28. Ann Neurol. 2024. PMID: 37964487
An activator of voltage-gated K+ channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1.
Servettini I, Talani G, Megaro A, Setzu MD, Biggio F, Briffa M, Guglielmi L, Savalli N, Binda F, Delicata F, Bru-Mercier G, Vassallo N, Maglione V, Cauchi RJ, Di Pardo A, Collu M, Imbrici P, Catacuzzeno L, D'Adamo MC, Olcese R, Pessia M. Servettini I, et al. Proc Natl Acad Sci U S A. 2023 Aug;120(31):e2207978120. doi: 10.1073/pnas.2207978120. Epub 2023 Jul 24. Proc Natl Acad Sci U S A. 2023. PMID: 37487086 Free PMC article.
Kv7.4 channels regulate potassium permeability in neuronal mitochondria.
Paventi G, Soldovieri MV, Servettini I, Barrese V, Miceli F, Sisalli MJ, Ambrosino P, Mosca I, Vinciguerra I, Testai L, Scorziello A, Raimo G, Calderone V, Passarella S, Taglialatela M. Paventi G, et al. Among authors: servettini i. Biochem Pharmacol. 2022 Mar;197:114931. doi: 10.1016/j.bcp.2022.114931. Epub 2022 Jan 24. Biochem Pharmacol. 2022. PMID: 35085542
New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
D'Adamo MC, Hasan S, Guglielmi L, Servettini I, Cenciarini M, Catacuzzeno L, Franciolini F. D'Adamo MC, et al. Among authors: servettini i. Front Cell Neurosci. 2015 Aug 19;9:317. doi: 10.3389/fncel.2015.00317. eCollection 2015. Front Cell Neurosci. 2015. PMID: 26347608 Free PMC article. Review.
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
D'Adamo MC, Gallenmüller C, Servettini I, Hartl E, Tucker SJ, Arning L, Biskup S, Grottesi A, Guglielmi L, Imbrici P, Bernasconi P, Di Giovanni G, Franciolini F, Catacuzzeno L, Pessia M, Klopstock T. D'Adamo MC, et al. Among authors: servettini i. Front Physiol. 2015 Jan 15;5:525. doi: 10.3389/fphys.2014.00525. eCollection 2014. Front Physiol. 2015. PMID: 25642194 Free PMC article.
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.
Ambrosini E, Sicca F, Brignone MS, D'Adamo MC, Napolitano C, Servettini I, Moro F, Ruan Y, Guglielmi L, Pieroni S, Servillo G, Lanciotti A, Valvo G, Catacuzzeno L, Franciolini F, Molinari P, Marchese M, Grottesi A, Guerrini R, Santorelli FM, Priori S, Pessia M. Ambrosini E, et al. Among authors: servettini i. Hum Mol Genet. 2014 Sep 15;23(18):4875-86. doi: 10.1093/hmg/ddu201. Epub 2014 May 2. Hum Mol Genet. 2014. PMID: 24794859 Free PMC article.
14 results