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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 04 Dec 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, CACNA1A, HAD, Kv1.6, SF-1
Papers on Kv1.1
A patient with medulloblastoma in its early developmental stage.
Kuratsu et al., In J Neurosurg Pediatr, 31 Dec 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.
A novel KCNA1 mutation causing episodic ataxia type I.
Drost et al., Nijmegen, Netherlands. In Muscle Nerve, Aug 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.
Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
CINCH Investigators et al., London, United Kingdom. In Brain, Apr 2014
We identified 10 different pathogenic point mutations in KCNA1 that accounted for the genetic basis of 85% of the cohort.
Using constellation pharmacology to define comprehensively a somatosensory neuronal subclass.
Olivera et al., Salt Lake City, United States. In Proc Natl Acad Sci U S A, Mar 2014
Differences in temperature threshold of cold thermosensors correlated with functional expression of voltage-gated K channels Kv1.1/1.2:
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.
High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.
Goldman et al., Vancouver, Canada. In Epilepsia, 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.
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, Dec 2013
Both isoforms up-regulated GABRA2, KCNA1, FOXG1 and FOXP2.
Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations.
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.
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.
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.
[Genetics components in patients with temporal lobe epilepsy].
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.
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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