188 related articles for article (PubMed ID: 9600245)
21. 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]
22. 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]
23. 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]
24. 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]
25. Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy.
Klein A; Boltshauser E; Jen J; Baloh RW
Neuropediatrics; 2004 Apr; 35(2):147-9. PubMed ID: 15127317
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Genetics of episodic ataxia.
Jen JC; Baloh RW
Adv Neurol; 2002; 89():459-61. PubMed ID: 11968470
[No Abstract] [Full Text] [Related]
28. Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation.
Maylie B; Bissonnette E; Virk M; Adelman JP; Maylie JG
J Neurosci; 2002 Jun; 22(12):4786-93. PubMed ID: 12077175
[TBL] [Abstract][Full Text] [Related]
29. Clinical Spectrum of
Paulhus K; Ammerman L; Glasscock E
Int J Mol Sci; 2020 Apr; 21(8):. PubMed ID: 32316562
[TBL] [Abstract][Full Text] [Related]
30. [Episodic ataxias].
Herrmann A; Braathen GJ; Russell MB
Tidsskr Nor Laegeforen; 2005 Aug; 125(15):2005-7. PubMed ID: 16100538
[TBL] [Abstract][Full Text] [Related]
31. Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.
Yuan H; Yuan H; Wang Q; Ye W; Yao R; Xu W; Liu Y
Mol Genet Genomic Med; 2020 Oct; 8(10):e1434. PubMed ID: 32705822
[TBL] [Abstract][Full Text] [Related]
32. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Brownstein CA; Beggs AH; Rodan L; Shi J; Towne MC; Pelletier R; Cao S; Rosenberg PA; Urion DK; Picker J; Tan WH; Agrawal PB
Neurogenetics; 2016 Jan; 17(1):11-6. PubMed ID: 26395884
[TBL] [Abstract][Full Text] [Related]
33. Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels.
Imbrici P; Cusimano A; D'Adamo MC; De Curtis A; Pessia M
Pflugers Arch; 2003 Jun; 446(3):373-9. PubMed ID: 12799903
[TBL] [Abstract][Full Text] [Related]
34. Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine.
Manville RW; Abbott GW
J Pharmacol Exp Ther; 2020 Jun; 373(3):391-401. PubMed ID: 32217768
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. 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]
38. Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13.
Teh BT; Silburn P; Lindblad K; Betz R; Boyle R; Schalling M; Larsson C
Am J Hum Genet; 1995 Jun; 56(6):1443-9. PubMed ID: 7762567
[TBL] [Abstract][Full Text] [Related]
39. Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.
Chen H; von Hehn C; Kaczmarek LK; Ment LR; Pober BR; Hisama FM
Neurogenetics; 2007 Apr; 8(2):131-5. PubMed ID: 17136396
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]