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6. Episodic ataxia results from voltage-dependent potassium channels with altered functions. Adelman JP; Bond CT; Pessia M; Maylie J Neuron; 1995 Dec; 15(6):1449-54. PubMed ID: 8845167 [TBL] [Abstract][Full Text] [Related]
7. Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia. Dinoi G; Morin M; Conte E; Mor Shaked H; Coppola MA; D'Adamo MC; Elpeleg O; Liantonio A; Hartmann I; De Luca A; Blunck R; Russo A; Imbrici P Int J Mol Sci; 2022 Jul; 23(15):. PubMed ID: 35897654 [TBL] [Abstract][Full Text] [Related]
8. Episodic ataxia/myokymia mutations functionally expressed in the Shaker potassium channel. Boland LM; Price DL; Jackson KA Neuroscience; 1999; 91(4):1557-64. PubMed ID: 10391459 [TBL] [Abstract][Full Text] [Related]
9. Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function. D'Adamo MC; Imbrici P; Sponcichetti F; Pessia M FASEB J; 1999 Aug; 13(11):1335-45. PubMed ID: 10428758 [TBL] [Abstract][Full Text] [Related]
10. Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel. D'Adamo MC; Liu Z; Adelman JP; Maylie J; Pessia M EMBO J; 1998 Mar; 17(5):1200-7. PubMed ID: 9482717 [TBL] [Abstract][Full Text] [Related]
11. Regulation of mammalian Shaker-related K+ channels: evidence for non-conducting closed and non-conducting inactivated states. Jäger H; Rauer H; Nguyen AN; Aiyar J; Chandy KG; Grissmer S J Physiol; 1998 Jan; 506 ( Pt 2)(Pt 2):291-301. PubMed ID: 9490854 [TBL] [Abstract][Full Text] [Related]
12. Glycosylation affects rat Kv1.1 potassium channel gating by a combined surface potential and cooperative subunit interaction mechanism. Watanabe I; Wang HG; Sutachan JJ; Zhu J; Recio-Pinto E; Thornhill WB J Physiol; 2003 Jul; 550(Pt 1):51-66. PubMed ID: 12879861 [TBL] [Abstract][Full Text] [Related]
13. A Disease Mutation Causing Episodic Ataxia Type I in the S1 Links Directly to the Voltage Sensor and the Selectivity Filter in Kv Channels. Petitjean D; Kalstrup T; Zhao J; Blunck R J Neurosci; 2015 Sep; 35(35):12198-206. PubMed ID: 26338330 [TBL] [Abstract][Full Text] [Related]
14. Three novel KCNA1 mutations in episodic ataxia type I families. Scheffer H; Brunt ER; Mol GJ; van der Vlies P; Stulp RP; Verlind E; Mantel G; Averyanov YN; Hofstra RM; Buys CH Hum Genet; 1998 Apr; 102(4):464-6. PubMed ID: 9600245 [TBL] [Abstract][Full Text] [Related]
15. External tetraethylammonium as a molecular caliper for sensing the shape of the outer vestibule of potassium channels. Bretschneider F; Wrisch A; Lehmann-Horn F; Grissmer S Biophys J; 1999 May; 76(5):2351-60. PubMed ID: 10233054 [TBL] [Abstract][Full Text] [Related]
16. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Browne DL; Gancher ST; Nutt JG; Brunt ER; Smith EA; Kramer P; Litt M Nat Genet; 1994 Oct; 8(2):136-40. PubMed ID: 7842011 [TBL] [Abstract][Full Text] [Related]
17. Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain. Imbrici P; D'Adamo MC; Grottesi A; Biscarini A; Pessia M Am J Physiol Cell Physiol; 2011 Jun; 300(6):C1314-22. PubMed ID: 21307345 [TBL] [Abstract][Full Text] [Related]
18. Predominant expression of Kv1.3 voltage-gated K+ channel subunit in rat prostate cancer cell lines: electrophysiological, pharmacological and molecular characterisation. Fraser SP; Grimes JA; Diss JK; Stewart D; Dolly JO; Djamgoz MB Pflugers Arch; 2003 Aug; 446(5):559-71. PubMed ID: 12838421 [TBL] [Abstract][Full Text] [Related]
19. A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions. Imbrici P; Altamura C; Gualandi F; Mangiatordi GF; Neri M; De Maria G; Ferlini A; Padovani A; D'Adamo MC; Nicolotti O; Pessia M; Conte D; Filosto M; Desaphy JF Mol Cell Neurosci; 2017 Sep; 83():6-12. PubMed ID: 28666963 [TBL] [Abstract][Full Text] [Related]
20. A mouse model of episodic ataxia type-1. Herson PS; Virk M; Rustay NR; Bond CT; Crabbe JC; Adelman JP; Maylie J Nat Neurosci; 2003 Apr; 6(4):378-83. PubMed ID: 12612586 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]