396 related articles for article (PubMed ID: 7842011)
21. 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]
22. 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]
23. Episodic ataxia type-1 mutations in the Kv1.1 potassium channel display distinct folding and intracellular trafficking properties.
Manganas LN; Akhtar S; Antonucci DE; Campomanes CR; Dolly JO; Trimmer JS
J Biol Chem; 2001 Dec; 276(52):49427-34. PubMed ID: 11679591
[TBL] [Abstract][Full Text] [Related]
24. Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem.
Knight MA; Storey E; McKinlay Gardner RJ; Hand P; Forrest SM
Hum Mutat; 2000 Oct; 16(4):374. PubMed ID: 11013453
[No Abstract] [Full Text] [Related]
25. Genetics of familial episodic vertigo and ataxia.
Baloh RW; Jen JC
Ann N Y Acad Sci; 2002 Apr; 956():338-45. PubMed ID: 11960817
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. [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]
28. 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]
29. 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]
30. Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency.
Zerr P; Adelman JP; Maylie J
J Neurosci; 1998 Apr; 18(8):2842-8. PubMed ID: 9526001
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. An activator of voltage-gated K
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
Proc Natl Acad Sci U S A; 2023 Aug; 120(31):e2207978120. PubMed ID: 37487086
[TBL] [Abstract][Full Text] [Related]
33. Clinical features of a large Australian pedigree with episodic ataxia type 1.
Hand PJ; Gardner RJ; Knight MA; Forrest SM; Storey E
Mov Disord; 2001 Sep; 16(5):938-9. PubMed ID: 11746627
[No Abstract] [Full Text] [Related]
34. 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]
35. Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.
Lubbers WJ; Brunt ER; Scheffer H; Litt M; Stulp R; Browne DL; van Weerden TW
J Neurol Neurosurg Psychiatry; 1995 Oct; 59(4):400-5. PubMed ID: 7561920
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. 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]
39. Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia.
Kinali M; Jungbluth H; Eunson LH; Sewry CA; Manzur AY; Mercuri E; Hanna MG; Muntoni F
Neuromuscul Disord; 2004 Oct; 14(10):689-93. PubMed ID: 15351427
[TBL] [Abstract][Full Text] [Related]
40. Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy.
Spauschus A; Eunson L; Hanna MG; Kullmann DM
Ann N Y Acad Sci; 1999 Apr; 868():442-6. PubMed ID: 10414318
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
