242 related articles for article (PubMed ID: 34566847)
21. 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]
22. Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.
Tristán-Clavijo E; Scholl FG; Macaya A; Iglesias G; Rojas AM; Lucas M; Castellano A; Martinez-Mir A
Mov Disord; 2016 Nov; 31(11):1743-1748. PubMed ID: 27477325
[TBL] [Abstract][Full Text] [Related]
23. A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.
Mestre TA; Manole A; MacDonald H; Riazi S; Kraeva N; Hanna MG; Lang AE; Männikkö R; Yoon G
Neurogenetics; 2016 Oct; 17(4):245-249. PubMed ID: 27271339
[TBL] [Abstract][Full Text] [Related]
24. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.
Zuberi SM; Eunson LH; Spauschus A; De Silva R; Tolmie J; Wood NW; McWilliam RC; Stephenson JB; Kullmann DM; Hanna MG
Brain; 1999 May; 122 ( Pt 5)():817-25. PubMed ID: 10355668
[TBL] [Abstract][Full Text] [Related]
25. The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels.
Chen SH; Fu SJ; Huang JJ; Tang CY
Sci Rep; 2016 Jan; 6():19378. PubMed ID: 26778656
[TBL] [Abstract][Full Text] [Related]
26. Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
Graves TD; Cha YH; Hahn AF; Barohn R; Salajegheh MK; Griggs RC; Bundy BN; Jen JC; Baloh RW; Hanna MG;
Brain; 2014 Apr; 137(Pt 4):1009-18. PubMed ID: 24578548
[TBL] [Abstract][Full Text] [Related]
27. De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
Rogers A; Golumbek P; Cellini E; Doccini V; Guerrini R; Wallgren-Pettersson C; Thuresson AC; Gurnett CA
Am J Med Genet A; 2018 Aug; 176(8):1748-1752. PubMed ID: 30055040
[TBL] [Abstract][Full Text] [Related]
28. Loss or gain of function? Effects of ion channel mutations on neuronal firing depend on the neuron type.
Koch NA; Sonnenberg L; Hedrich UBS; Lauxmann S; Benda J
Front Neurol; 2023; 14():1194811. PubMed ID: 37292138
[TBL] [Abstract][Full Text] [Related]
29. Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.
Shook SJ; Mamsa H; Jen JC; Baloh RW; Zhou L
Muscle Nerve; 2008 Mar; 37(3):399-402. PubMed ID: 17912752
[TBL] [Abstract][Full Text] [Related]
30. A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.
Zhao J; Petitjean D; Haddad GA; Batulan Z; Blunck R
Int J Mol Sci; 2020 Oct; 21(20):. PubMed ID: 33066705
[TBL] [Abstract][Full Text] [Related]
31. A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.
Imbrici P; Gualandi F; D'Adamo MC; Masieri MT; Cudia P; De Grandis D; Mannucci R; Nicoletti I; Tucker SJ; Ferlini A; Pessia M
Neuroscience; 2008 Dec; 157(3):577-87. PubMed ID: 18926884
[TBL] [Abstract][Full Text] [Related]
32. Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
Tomlinson SE; Rajakulendran S; Tan SV; Graves TD; Bamiou DE; Labrum RW; Burke D; Sue CM; Giunti P; Schorge S; Kullmann DM; Hanna MG
J Neurol Neurosurg Psychiatry; 2013 Oct; 84(10):1107-12. PubMed ID: 23349320
[TBL] [Abstract][Full Text] [Related]
33. Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.
Graves TD; Rajakulendran S; Zuberi SM; Morris HR; Schorge S; Hanna MG; Kullmann DM
Neurology; 2010 Jul; 75(4):367-72. PubMed ID: 20660867
[TBL] [Abstract][Full Text] [Related]
34. A novel mutation in KCNA1 causes episodic ataxia without myokymia.
Lee H; Wang H; Jen JC; Sabatti C; Baloh RW; Nelson SF
Hum Mutat; 2004 Dec; 24(6):536. PubMed ID: 15532032
[TBL] [Abstract][Full Text] [Related]
35. Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1.
Rea R; Spauschus A; Eunson LH; Hanna MG; Kullmann DM
J Physiol; 2002 Jan; 538(Pt 1):5-23. PubMed ID: 11773313
[TBL] [Abstract][Full Text] [Related]
36. 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
Front Physiol; 2014; 5():525. PubMed ID: 25642194
[TBL] [Abstract][Full Text] [Related]
37. Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature.
Brunetti O; Imbrici P; Botti FM; Pettorossi VE; D'Adamo MC; Valentino M; Zammit C; Mora M; Gibertini S; Di Giovanni G; Muscat R; Pessia M
Neurobiol Dis; 2012 Sep; 47(3):310-21. PubMed ID: 22609489
[TBL] [Abstract][Full Text] [Related]
38. Distinctive role of KV1.1 subunit in the biology and functions of low threshold K(+) channels with implications for neurological disease.
Ovsepian SV; LeBerre M; Steuber V; O'Leary VB; Leibold C; Oliver Dolly J
Pharmacol Ther; 2016 Mar; 159():93-101. PubMed ID: 26825872
[TBL] [Abstract][Full Text] [Related]
39. An episodic ataxia type-1 mutation in the S1 segment sensitises the hKv1.1 potassium channel to extracellular Zn2+.
Cusimano A; Cristina D'Adamo M; Pessia M
FEBS Lett; 2004 Oct; 576(1-2):237-44. PubMed ID: 15474044
[TBL] [Abstract][Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
