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17 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
Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2-developmental encephalopathy.
Nappi M, Alberini G, Berselli A, Roscioni A, Soldovieri MV, Servettini I, Barrese V, Weckhuysen S, Chiu TA, Scheffer IE, Benfenati F, Maragliano L, Miceli F, Taglialatela M. Nappi M, et al. Among authors: servettini i. Proc Natl Acad Sci U S A. 2024 Dec 3;121(49):e2412388121. doi: 10.1073/pnas.2412388121. Epub 2024 Nov 27. Proc Natl Acad Sci U S A. 2024. PMID: 39602259 Free PMC article.
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.
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
Fluoxetine Treatment in Epilepsy of Infancy with Migrating Focal Seizures Due to KCNT1 Variants: An Open Label Study.
Trivisano M, Mosca I, Salimbene L, De Dominicis A, Ambrosino P, Puzo D, Servettini I, Correale C, Falamesca C, Filosomi C, Goffredo B, Soldovieri MV, Taglialatela M, Specchio N. Trivisano M, et al. Among authors: servettini i. Ann Neurol. 2025 Jul;98(1):48-61. doi: 10.1002/ana.27213. Epub 2025 Feb 21. Ann Neurol. 2025. PMID: 39981956 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.
17 results