| 1 | KCNA1, UNC5D
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| Hypermethylated promoters of genes UNC5D and KCNA1 as potential novel diagnostic biomarkers in colorectal cancer
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| Uhan S, Zidar N, Tomažič A, Hauptman N.
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| Epigenomics. Oct;12(19):1677-1688. doi: 10.2217/epi-2020-0118. Epub 2020 Oct 20. 2020
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| 2 | ANK3, KCNA1
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| Ankyrin-3 is a novel binding partner of the voltage-gated potassium channel Kv1.1 implicated in renal magnesium handling.
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| San-Cristobal P, Lainez S, Dimke H, de Graaf MJ, Hoenderop JG, Bindels RJ.
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| Kidney Int 85(1):94-102. doi: 10.1038/ki.2013.280. Epub 2013 Jul 31.
2014
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| 3 | KCNA1, KCNA2
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| Kv1.1 and Kv1.2: similar channels, different seizure models.
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| Robbins CA, Tempel BL.
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| Epilepsia 53 Suppl 1:134-41. doi: 10.1111/j.1528-1167.2012.03484.x. Review.
2012
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| 4 | CNTN2, KCNA1, KCNA2
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| Clustering and activity tuning of Kv1 channels in myelinated hippocampal axons.
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| Gu C, Gu Y.
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| J Biol Chem 286(29):25835-47. doi: 10.1074/jbc.M111.219113. Epub 2011 May 20.
2011
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| 5 | HMG, KCNA1
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| Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.
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| van der Wijst J, Glaudemans B, Venselaar H, Nair AV, Forst AL, Hoenderop JG, Bindels RJ.
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| J Biol Chem 285(1):171-8. Epub 2009 Nov 10.PMID: 19903818 2010
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| 6 | CACNA1A, EA1, EA2, EA3, EA4, EA5, EA6, EAAT1, KCNA1, SCA6
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| Late onset hereditary episodic ataxia.
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| Damak M, Riant F, Boukobza M, Tournier-Lasserve E, Bousser MG, Vahedi K.
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| J Neurol Neurosurg Psychiatry 80(5):566-8.
2009
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| 7 | HMG, KCNA1
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| A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.
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| Glaudemans B, van der Wijst J, Scola RH, Lorenzoni PJ, Heister A, van der Kemp AW, Knoers NV, Hoenderop JG, Bindels RJ.
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| J Clin Invest 119(4):936-42. doi: 10.1172/JCI36948. Epub 2009 Mar 23.PMID: 19307729 2009
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| 8 | EA1, KCNA1
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| A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
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| Demos MK, Macri V, Farrell K, Nelson TN, Chapman K, Accili E, Armstrong L.
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| Mov Disord 24(5):778-82.PMID: 19205071 2009
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| 9 | KCNA1, KCNA5, KCNE1
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| Potassium channels involved in human sperm volume regulation--quantitative studies at the protein and mRNA levels.
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| Yeung CH, Cooper TG.
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| Mol Reprod Dev 75(4):659-68. 2008
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| 10 | EA1, KCNA1
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| Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.
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| Shook SJ, Mamsa H, Jen JC, Baloh RW, Zhou L.
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| Muscle Nerve 37(3):399-402.PMID: 17912752 2008
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| 11 | KCNA1, KCNAB1
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| Functional coupling between the Kv1.1 channel and aldoketoreductase Kvbeta1.
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| Pan Y, Weng J, Cao Y, Bhosle RC, Zhou M.
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| J Biol Chem 283(13):8634-42. doi: 10.1074/jbc.M709304200. Epub 2008 Jan 25.
2008
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| 12 | CACNA1A, EA1, EA2, KCNA1
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| Primary episodic ataxias: diagnosis, pathogenesis and treatment.
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| Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW; CINCH investigators.
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| Brain 130(Pt 10):2484-93. Epub 2007 Jun 15. Review. 2007
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| 13 | EA1, KCNA1
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| Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.
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| Imbrici P, D'Adamo MC, Kullmann DM, Pessia M.
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| Eur J Neurosci 24(11):3073-83. 2006
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| 14 | KCNA1
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| Episodic ataxia type-1 mutations in the Kv1.1 potassium channel display distinct folding and intracellular trafficking properties.
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| Manganas LN, Akhtar S, Antonucci DE, Campomanes CR, Dolly JO, Trimmer JS.
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| J Biol Chem 276(52):49427-34. Epub 2001 Oct 25. 2001
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| 15 | KCNA1, EA1
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| A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.
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| Zuberi SM, et al.
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| Brain 122 ( Pt 5):817-25. 1999
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| 16 | KCNA1, EA1
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| Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function.
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| D'Adamo MC, Imbrici P, Sponcichetti F, Pessia M.
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| FASEB J 13(11):1335-45 1999
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| 17 | EA1,KCNA1
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| Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel.
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| D'Adamo MC, Liu Z, Adelman JP, Maylie J, Pessia M.
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| EMBO J 17(5):1200-7. 1998
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| 18 | EA1, KCNA1
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| Three novel KCNA1 mutations in episodic ataxia type I families.
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| Scheffer H, et al.
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| Hum Genet 102 : 464-466. 1998
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| 19 | EA1,KCNA1
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| Episodic ataxia and myokymia syndrome : a new mutation of potassium channel gene Kv1.1.
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| Comu S, et al.
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| Ann Neurol 40 : 684-687. 1996
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| 20 | KCNA1,SLC4A1
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| Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.
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| Lubbers WJ, et al.
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| J Neurol Neurosurg Psychiatry 59 : 400-405. 1995
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| 21 | KCNA1, KCNA5, KCNA6
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| Characterization of a voltage-activated K-channel gene cluster on human chromosome 12p13.
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| Albrecht B, et al.
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| Receptors Channels 3 : 213-220. 1995
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| 22 | KCNA1, EA1
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| Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.
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| Browne DL, et al.
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| Hum Mol Genet 4 : 1671-1672. 1995
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| 23 | KCNA1, KCNA4, KCNC1
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| Genomic organization, nucleotide sequence, biophysical properties, and localization of the voltage-gated K+ channel gene KCNA4/Kv1.4 to mouse chromosome 2/human 11p14 and mapping of KCNC1/Kv3.1 to mouse 7/human 11p14.3-p15.2 and KCNA1/Kv1.1 to human 12p13.
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| Wymore RS, et al.
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| Genomics 20 : 191-202. 1994
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| 24 | KCNA1, EA1
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| Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
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| Browne DL, et al.
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| Nat Genet 8 : 136-140. 1994
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| 25 | KCNA1, KCNA2
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| Heteromultimeric K+ channels in terminal and juxtaparanodal regions of neurons.
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| Wang H, et al.
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| Nature 365 : 75-79. 1993
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| 26 | KCNA1
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| Molecular cloning, characterization, and genomic localization of a human potassium channel gene.
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| Curran ME, et al.
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| Genomics 12 : 729-737. 1992
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| 27 | KCNA1, KCNA2, KCNA5, KCNA7, KCNC2, KCNC3, KCNC4, KCNE1
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| Chromosomal localization of 7 potassium channel genes.
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| McPherson JD, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 1979. 1991
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