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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 29 Mar 2014.

Potassium voltage-gated channel, shaker-related subfamily, member 1

Kv1.1, KCNA1
This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, HAD, CACNA1A, Kv1.6, SF-1
Papers on Kv1.1
Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
New
CINCH Investigators et al., London, United Kingdom. In Brain, 30 Apr 2014
We identified 10 different pathogenic point mutations in KCNA1 that accounted for the genetic basis of 85% of the cohort.
A novel KCNA1 mutation causing episodic ataxia type I.
New
Drost et al., Nijmegen, Netherlands. In Muscle Nerve, 18 Apr 2014
UNLABELLED: Objectives: Describe the clinical phenotype of a novel de novo KNCA1 mutation, and functional characterization of the effects of the mutation on Kv1.1 channel function.
Using constellation pharmacology to define comprehensively a somatosensory neuronal subclass.
New
Olivera et al., Salt Lake City, United States. In Proc Natl Acad Sci U S A, 11 Mar 2014
Differences in temperature threshold of cold thermosensors correlated with functional expression of voltage-gated K channels Kv1.1/1.2:
High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.
New
Goldman et al., Vancouver, Canada. In Epilepsia, 28 Feb 2014
We uncovered complex combinations of single nucleotide polymorphisms and CNVs in genes expressed in both neurocardiac and respiratory control pathways, including SCN1A, KCNA1, RYR3, and HTR2C.
Genetics of dizziness: cerebellar and vestibular disorders.
New
Lopez-Escamez et al., Almería, Spain. In Curr Opin Neurol, 28 Feb 2014
Novel mutations in KCNA1 and CACNA1A genes are associated with episodic ataxia type 1 and type 2, respectively.
Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations.
New
Bostock et al., London, United Kingdom. In Dev Med Child Neurol, Oct 2013
Episodic ataxia type 1 (EA1) is caused by mutations in the KCNA1 gene encoding the fast potassium channel Kv1.1 and is characterized clinically by brief episodes of ataxia and continuous and spontaneous motor unit activity.
Potassium channel KCNA1 modulates oncogene-induced senescence and transformation.
New
Bernard et al., Lyon, France. In Cancer Res, Sep 2013
We carried out a loss-of-function genetic screen that identified the potassium channel KCNA1 as a determinant of OIS escape that can license tumor growth.
Genetic grouping of medulloblastomas by representative markers in pathologic diagnosis.
New
Park et al., Seoul, South Korea. In Transl Oncol, Jun 2013
KCNA1 was not specific to group 4 because it was expressed in all groups.
Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes.
GeneRIF
Thornhill et al., United States. In Arch Biochem Biophys, 2012
characterization of mutations in the potassium channel Kv1.1
Voltage-gated potassium channels and the diversity of electrical signalling.
Review
Jan et al., San Francisco, United States. In J Physiol, 2012
As one indication of the evolutionary conservation of Kv1 channel functions, mutations of the Shaker potassium channel gene in Drosophila and the KCNA1 gene for its mammalian orthologue, Kv1.1, cause hyperexcitability near axon branch points and nerve terminals, thereby leading to uncontrolled movements and recapitulating the episodic ataxia-1 (EA1) symptoms in human patients.
Deficits in responding to brief noise offsets in Kcna1 -/- mice reveal a contribution of this gene to precise temporal processing seen previously only for stimulus onsets.
GeneRIF
Allen et al., Rochester, United States. In J Assoc Res Otolaryngol, 2012
mechanisms for processing acoustic transients less effective in Kcna1 -/- mice
Kv1.1 and Kv1.2: similar channels, different seizure models.
GeneRIF
Tempel et al., Seattle, United States. In Epilepsia, 2012
Overlapping patterns with differential expression and precise localization of Kv1.1 and Kv1.2 channels targeted to specialized subcellular compartments contribute to distinctive patterns of neuronal excitability --REVIEW
Kcna1 gene deletion lowers the behavioral sensitivity of mice to small changes in sound location and increases asynchronous brainstem auditory evoked potentials but does not affect hearing thresholds.
GeneRIF
Ison et al., Rochester, United States. In J Neurosci, 2012
Suprathreshold auditory evoked potentials coupled with their normal thresholds suggests that a disruption in central neural processing in Kcna1 null mice and not peripheral hearing loss is responsible for their poor sound localization.
Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures.
GeneRIF
Mashimo et al., Kyoto, Japan. In Brain Res, 2012
This study demonistrated that Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures.
Episodic ataxias 1 and 2.
Review
GeneRIF
Baloh, Los Angeles, United States. In Handb Clin Neurol, 2011
This study suggested that kcna1 missense mutation have been related to Episodic ataxias 1.
[Hereditary episodic ataxia].
Review
Tournier-Lasserve et al., Paris, France. In Rev Neurol (paris), 2011
EA1 is caused by mutations of the KCNA1 gene coding for the voltage-gated potassium channel Kv1.1.
Medulloblastoma comprises four distinct molecular variants.
Impact
GeneRIF
Taylor et al., Toronto, Canada. In J Clin Oncol, 2011
integrative genomics approach to a large cohort of medulloblastomas has identified four disparate subgroups (KCNA1)with distinct demographics, clinical presentation, transcriptional profiles, genetic abnormalities, and clinical outcome.
[Genetics components in patients with temporal lobe epilepsy].
Review
Alonso-Cerezo et al., Madrid, Spain. In Rev Neurol, 2009
We have reviewed the following genes; LGI1, PDYN (prodynorphin), interleucine 1beta, PRPN (prion protein), ApoE (apolipoprotein E), GABBR1, SCN1A, SCN1B, KCNA1, KCND2.
Recent advances in the genetics of recurrent vertigo and vestibulopathy.
Review
Jen, Los Angeles, United States. In Curr Opin Neurol, 2008
RECENT FINDINGS: Since the identification more than a decade ago of the genetic causes of episodic ataxia type 1 with myokymia caused by KCNA1 mutations and episodic ataxia type 2 with nystagmus caused by CACNA1A mutations, the list of episodic ataxia syndromes with distinct clinical features and genetic loci is slowly expanding, now up to episodic ataxia type 7.
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
Impact
Litt et al., Portland, United States. In Nat Genet, 1994
Linkage studies in four such families suggested localization of an EA/myokymia gene near the voltage gated K+ channel gene, KCNA1 (Kv1.1), on chromosome 12p.
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