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Items: 1 to 20 of 98

1.

A novel KCNA1 mutation causing episodic ataxia type I.

Lassche S, Lainez S, Bloem BR, van de Warrenburg BP, Hofmeijer J, Lemmink HH, Hoenderop JG, Bindels RJ, Drost G.

Muscle Nerve. 2014 Aug;50(2):289-91. doi: 10.1002/mus.24242.

PMID:
24639406
2.

Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations.

Tan SV, Wraige E, Lascelles K, Bostock H.

Dev Med Child Neurol. 2013 Oct;55(10):959-62. doi: 10.1111/dmcn.12236.

3.

Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1).

Bretschneider F, Wrisch A, Lehmann-Horn F, Grissmer S.

Eur J Neurosci. 1999 Jul;11(7):2403-12.

PMID:
10383630
4.

Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.

van der Wijst J, Glaudemans B, Venselaar H, Nair AV, Forst AL, Hoenderop JG, Bindels RJ.

J Biol Chem. 2010 Jan 1;285(1):171-8. doi: 10.1074/jbc.M109.041517.

5.
6.

A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.

Glaudemans B, van der Wijst J, Scola RH, Lorenzoni PJ, Heister A, van der Kemp AW, Knoers NV, Hoenderop JG, Bindels RJ.

J Clin Invest. 2009 Apr;119(4):936-42. doi: 10.1172/JCI36948.

7.

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. doi: 10.1152/ajpcell.00456.2010.

8.

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 2;157(3):577-87. doi: 10.1016/j.neuroscience.2008.09.022.

PMID:
18926884
9.

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.

PMID:
17912752
10.

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.

Demos MK, Macri V, Farrell K, Nelson TN, Chapman K, Accili E, Armstrong L.

Mov Disord. 2009 Apr 15;24(5):778-82. doi: 10.1002/mds.22467.

PMID:
19205071
11.

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. doi: 10.1002/mds.26737.

PMID:
27477325
12.

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.

PMID:
15351427
13.

Episodic ataxia/myokymia mutations functionally expressed in the Shaker potassium channel.

Boland LM, Price DL, Jackson KA.

Neuroscience. 1999;91(4):1557-64.

PMID:
10391459
14.

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 30;868:442-6. No abstract available.

PMID:
10414318
15.

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.

Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R, Avoni P, McWilliam RC, Stephenson JB, Hanna MG, Kullmann DM, Spauschus A.

Ann Neurol. 2000 Oct;48(4):647-56.

PMID:
11026449
16.
17.

Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes.

Zhu J, Alsaber R, Zhao J, Ribeiro-Hurley E, Thornhill WB.

Arch Biochem Biophys. 2012 Aug 15;524(2):99-105. doi: 10.1016/j.abb.2012.05.006.

PMID:
22609616
18.
19.

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.

PMID:
15532032
20.

Episodic ataxias 1 and 2.

Baloh RW.

Handb Clin Neurol. 2012;103:595-602. doi: 10.1016/B978-0-444-51892-7.00042-5. Review.

PMID:
21827920

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