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KCNA1
| Symbol: | KCNA1 | | Name(s): | potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) | | Type: | protein-coding | | Organism: | Homo sapiens | | Synonyms: | AEMK, EA1, HBK1, HUK1, KV1.1, MBK1, MGC126782, MGC138385, MK1, RBK1 | | Links: |
Pubmed,
Entrez Gene,
GeneCards,
BioGPS,
Map Viewer.
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Gene Information from Publications |
| Publication Link |
Summary of findings |
| 17136396 |
Myokymia is an autosomal dominant trait caused by mutations in KCNA1, encoding a voltage-gated potassium channel. |
| 15486093 |
coupling between calcium influx and inactivation of voltage-gated A-type K+ channels occurs as a result of membrane depolarization and may contribute to afterhyperpolarization as negative feedback to control neuronal excitability |
| 11960817 |
missense mutation involved in episodic ataxia type 1 |
| 11773313 |
Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1 |
| 15351427 |
This study report an unusual family in which the same point mutation in the voltage-gated potassium channel gene KCNA1 resulted in markedly different clinical phenotypes. |
| 15136567 |
Results describe an erbstatin (Erb) analogue as a small molecule inhibitor of the N-type inactivation in potassium channels Kv1.4 and Kv1.1+Kvbeta1. |
| 15837928 |
Results identify palmitoylation as a mechanism for K(+) channel interactions with plasma membrane lipids contributing to electric field-induced conformational alterations. |
| 12799903 |
I177N, mutation in S1 segment, alters the expression and gating properties of channel expressed in Xenopus oocytes. |
Interacting gene products |
| Interaction Type |
Gene 1 |
Gene 2 |
Interaction description |
Complex |
Publication Link |
| HPRD | Potassium voltage gated channel, shaker related subfamily, member 1 | potassium voltage-gated channel, Isk-related family, member 4 | - | - | Pubmed |
| HPRD | potassium voltage-gated channel, shaker-related subfamily, member 1 | Potassium channel voltage gated ISK related subfamily member 4 | - | - | Pubmed |
| HPRD | potassium voltage-gated channel, shaker-related subfamily, member 1 | potassium voltage-gated channel, shaker-related subfamily, beta member 2 isoform 1 | - | - | Pubmed |
| HPRD | potassium voltage-gated channel, shaker-related subfamily, member 1 | potassium voltage-gated channel, shaker-related subfamily, beta member 2 isoform 1 | - | - | Pubmed |
Recent Publications on KCNA1: |  |
[Genetics components in patients with temporal lobe epilepsy.]
INTRODUCTION. Epilepsy is one of the major neurological disorders... | 28th October, 2009
| Hospital Universitario de la Princesa, 28006 Madrid, Espana.
| Rev Neurol. 2009 Nov 16-30;49(10):541-6.
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Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release.
Heterozygous mutations of KCNA1, the gene encoding potassium channel Kv1.1... | 26th September, 2009
| Department of Clinical and Experimental Epilepsy, Department of Molecular
| Dis Model Mech. 2009 Sep 24.
DOI Direct Link |
A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.
Heterozygous mutations of KCNA1, the gene encoding potassium channel Kv1.1... | 23rd September, 2009
| Medical Research Council Centre for Neuromuscular Disease, Queen Square,
| Neurology. 2009 Sep 22;73(12):993-5.
DOI Direct Link |
Ketogenic diet treatment abolishes seizure periodicity and improves diurnal rhythmicity in epileptic Kcna1-null mice.
INTRODUCTION: Seizures are known to perturb circadian rhythms in humans as... | 2nd September, 2009
| Barrow Neurological Institute and St. Joseph's Medical Center, Neurology
| Epilepsia. 2009 Sep;50(9):2027-34. Epub 2009 Jun 1.
DOI Direct Link |
Familial episodic ataxia: a model for migrainous vertigo.
Familial episodic ataxias are inherited channelopathies that manifest as... | 19th August, 2009
| UCLA Neurology,
| Ann N Y Acad Sci. 2009 May;1164:252-6.
DOI Direct Link |
→View more research publications. |
KCNA1 results (if any) from reagent suppliers | 
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KV1.1 (A-15) Antibody sc-11184
KCNA1 and TRPC6 ion channels and NHE1 exchanger operate the biological outcome of HGF/scatter factor in renal tubular cells. Growth Factors. 25: 382-391. ...
http://www.scbt.com/datasheet-11184-kv1-1-a-15-antibody.html...
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Complete Solutions for Ion Channels
KCNA1, NM_010595, potassium voltage-gated channel: shaker-related subfamily: member 1, P8607 · K1389. KCNA2, NM_004974, potassium voltage-gated channel: ...
http://www.sigmaaldrich.com/life-science/functional-genomics...
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KV1.1 (N-16) Antibody sc-11182
Species, Gene Name, Gene ID, Chromosome Location, Isoform (mRNA) Accession #, Protein Accession #, OMIM™ Number. Human, KCNA1, 3736, 12p13.32, NM_000217, ...
http://www.scbt.com/datasheet-11182-kv1-1-n-16-antibody.html...
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D9035 Diazoxide
Gene Information, human ... KCNA1(3736), KCNJ11(3767), KCNMA1(3778). rat ... Gria1(50592), Kcna1(24520), Kcnj1(24521), Kcnj11(83535), Kcnj8(25472) ...
http://www.sigmaaldrich.com/catalog/ProductDetail.do?N4=D903...
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Search Results
JAX Mice Database - 003532 C3HeB.129S7-Kcna1/J. Stock# - 003532 Strain name - C3HeB.129S7-Kcna1/J JAX® Mice Database ...
http://www.jax.org/search/Main.jsp?sg=0&qt=maintaining&page=...
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C1055 Cromakalim
Kcna1(24520), Kcnj1(24521), Kcnj5(29713), Kcnj8(25472). storage temp. 2-8°C. Safety. Personal Protective Equipment, Eyeshields, Gloves, type N95 (US), ...
http://www.sigmaaldrich.com/catalog/ProductDetail.do?D7=0&N5...
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P154 Pinacidil monohydrate solid
0.1 M HCl: 7 mg/mL. H2O: insoluble. Gene Information, rat ... Kcna1(24520), Kcnj1(24521), Kcnj11(83535), Kcnj5(29713), Kcnj8(25472). mouse ... Kcnj11(16514)
...
http://www.sigmaaldrich.com/catalog/ProductDetail.do?D7=0&N5...
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