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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
KV1 channels identified in rodent myelinated axons, linked to Cx29 in innermost myelin: Support for electrically-active myelin in mammalian saltatory conduction.
Nagy et al., Colorado, Brazil. In J Neurophysiol, 13 Feb 2016
Here, we visualize, identify, localize, quantify, and ultrastructurally-characterize axonal KV1.1/KV1.2
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Agrawal et al., Boston, United States. In Neurogenetics, 31 Jan 2016
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, 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.
New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
Franciolini et al., Perugia, Italy. In Front Cell Neurosci, 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.
A patient with medulloblastoma in its early developmental stage.
Kuratsu et al., In J Neurosurg Pediatr, 2014
It has been suggested that medulloblastomas be categorized into 4 distinct molecular subgroups- WNT (DKK1), SHH (SFRP1), Group 3 (NPR3), or Group 4 (KCNA1)-since each subgroup is distinct and there is no overlap.
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, 2014
Additional hits occurred in genes affecting pancreatic (KCNJ6, KCNA1) and/or GABA (GABRR1, KCNA1) functions.
A novel KCNA1 mutation causing episodic ataxia type I.
Drost et al., Nijmegen, Netherlands. In Muscle Nerve, 2014
We 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.
Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expression.
Vincent et al., Toronto, Canada. In Plos One, 2013
Both isoforms up-regulated GABRA2, KCNA1, FOXG1 and FOXP2.
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.
Differences in human cortical gene expression match the temporal properties of large-scale functional networks.
Mesmoudi et al., Paris, France. In Plos One, 2013
Ionic channels and release-related proteins more expressed in the VSA ring favor temporal precision of fast evoked neural transmission (Sodium channels SCNA1, SCNB1 potassium channel KCNA1, calcium channel CACNA2D2, Synaptotagmin SYT2, Complexin CPLX1, Synaptobrevin VAMP1).
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
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.
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/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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