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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 02 Nov 2015.

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, CACNA1A, HAD, Kv1.6, SF-1
Papers on Kv1.1
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Agrawal et al., Boston, United States. In Neurogenetics, 22 Oct 2015
UNASSIGNED: Mutations in the KCNA1 gene are known to cause episodic ataxia/myokymia syndrome type 1 (EA1).
Silver nanoparticle exposure induces rat motor dysfunction through decrease in expression of calcium channel protein in cerebellum.
Jiang et al., Beijing, China. In Toxicol Lett, 02 Oct 2015
AgNPs treatment decreases calcium channel protein (CACNA1A) levels in cerebellum without changing potassium channel protein (KCNA1) levels.
Effects of 5-h multimodal stress on the molecules and pathways involved in dendritic morphology and cognitive function.
Zhang et al., Beijing, China. In Neurobiol Learn Mem, Sep 2015
The results showed that stress increased plasma corticosterone concentration, decreased cognitive function, damaged dendritic morphologies, and altered APBB1, CLSTN1, KCNA4, NOTCH3, PLAU, RPS6KA1, SYP, TGFB1, KCNA1, NTRK3, and SNCA expression in the brains of mice.
Expression and function of Kv1.1 potassium channels in human atria from patients with atrial fibrillation.
Wehrens et al., Shreveport, United States. In Basic Res Cardiol, Sep 2015
Voltage-gated Kv1.1 channels encoded by the Kcna1 gene are traditionally regarded as being neural-specific with no known expression or intrinsic functional role in the heart.
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.
Brais et al., Montréal, Canada. In Neurogenetics, Jul 2015
Mutations in KCNA1 and CACNA1A account for the majority of EA cases worldwide.
First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.
Blackwell et al., Australia. In Plos One, Dec 2014
Additional hits occurred in genes affecting pancreatic (KCNJ6, KCNA1) and/or GABA (GABRR1, KCNA1) functions.
New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
Franciolini et al., Perugia, Italy. In Front Cell Neurosci, Dec 2014
The disease is inherited in an autosomal dominant manner, and genetic analysis of several families has led to the discovery of a number of point mutations in the voltage-dependent K(+) channel gene KCNA1 (Kv1.1), on chromosome 12p13.
Genetics of dizziness: cerebellar and vestibular disorders.
Lopez-Escamez et al., Almería, Spain. In Curr Opin Neurol, Feb 2014
Novel mutations in KCNA1 and CACNA1A genes are associated with episodic ataxia type 1 and type 2, respectively.
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
Klopstock et al., Perugia, Italy. In Front Physiol, 2013
A single nucleotide change in KCNA1 (c.555C>G) was identified that changes a highly conserved residue (p.C185W) in the first transmembrane segment of the voltage-gated K(+) channel Kv1.1.
Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes.
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.
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.
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.
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.
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.
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.
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].
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.
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.
Episodic Ataxia Type 1
Pessia et al., Seattle, United States. In Unknown Journal, 2010
DIAGNOSIS/TESTING: Diagnosis is based on clinical findings and molecular genetic testing of KCNA1, the only gene in which mutations are known to cause EA1.
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
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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