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    KCNA1 potassium voltage-gated channel subfamily A member 1 [ Homo sapiens (human) ]

    Gene ID: 3736, updated on 22-Apr-2017

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    we demonstrate that the pathophysiological impact of the I262T mutation entails altered channel gating and defective protein biosynthesis, both of which raise imperative questions that call for further elucidation of the structural and functional roles of the S3 transmembrane segment in Kv1.1 channels.

    The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels.
    Chen SH, Fu SJ, Huang JJ, Tang CY., Free PMC Article

    Herein, we critically evaluate the molecular and biophysical characteristics of the KV1.1 protein in comparison with others and discuss their role in the greater penetrance of KCNA1 mutations in humans leading to the neurological signs of episodic ataxia type 1

    Distinctive role of KV1.1 subunit in the biology and functions of low threshold K(+) channels with implications for neurological disease.
    Ovsepian SV, LeBerre M, Steuber V, O'Leary VB, Leibold C, Oliver Dolly J.

    KCNA1 mutations should be considered in patients of all ages with episodic neurological phenotypes, even when ataxia is not present.

    Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
    Brownstein CA, Beggs AH, Rodan L, Shi J, Towne MC, Pelletier R, Cao S, Rosenberg PA, Urion DK, Picker J, Tan WH, Agrawal PB., Free PMC Article

    These findings provide evidence of an intrinsic cardiac role of Kv1.1 channels and indicate that they may contribute to atrial repolarization and atrial fibrillation susceptibility.

    Expression and function of Kv1.1 potassium channels in human atria from patients with atrial fibrillation.
    Glasscock E, Voigt N, McCauley MD, Sun Q, Li N, Chiang DY, Zhou XB, Molina CE, Thomas D, Schmidt C, Skapura DG, Noebels JL, Dobrev D, Wehrens XH., Free PMC Article

    Fine-tuning of Kv1.1 surface expression by RNA editing might contribute to the complexity of neuronal Kv channel regulation.

    RNA editing in the central cavity as a mechanism to regulate surface expression of the voltage-gated potassium channel Kv1.1.
    Streit AK, Matschke LA, Dolga AM, Rinné S, Decher N., Free PMC Article

    Novel mutations in KCNA1 genes are associated with episodic ataxia type 1.

    Genetics of dizziness: cerebellar and vestibular disorders.
    Requena T, Espinosa-Sanchez JM, Lopez-Escamez JA.

    Using mutagenesis and analysis of gating currents from gating pore mutations in the Shaker Kv channel, we identified statistically highly significant correlations between VSD function and physicochemical properties of gating pore residues.

    Moving gating charges through the gating pore in a Kv channel voltage sensor.
    Lacroix JJ, Hyde HC, Campos FV, Bezanilla F., Free PMC Article

    The combination of copy number variant and SNPs in KCNA1 (and SCN1A) genes increased the risk for both epilepsy and premature death.

    High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.
    Klassen TL, Bomben VC, Patel A, Drabek J, Chen TT, Gu W, Zhang F, Chapman K, Lupski JR, Noebels JL, Goldman AM., Free PMC Article

    New mutations (R167M, C185W and I407M) were identified in three out of the four families. When expressed in human embryonic kidney cells, all three new mutations resulted in a loss of K(v)1.1 channel function.

    Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
    Tomlinson SE, Rajakulendran S, Tan SV, Graves TD, Bamiou DE, Labrum RW, Burke D, Sue CM, Giunti P, Schorge S, Kullmann DM, Hanna MG., Free PMC Article

    characterization of mutations in the potassium channel Kv1.1

    Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes.
    Zhu J, Alsaber R, Zhao J, Ribeiro-Hurley E, Thornhill WB.

    NRG1 increased the intrinsic excitability of FS-PV interneurons which was mediated by increasing the near-threshold responsiveness and decreasing the voltage threshold for action potentials through Kv1.1

    Neuregulin 1 regulates excitability of fast-spiking neurons through Kv1.1 and acts in epilepsy.
    Li KX, Lu YM, Xu ZH, Zhang J, Zhu JM, Zhang JM, Cao SX, Chen XJ, Chen Z, Luo JH, Duan S, Li XM.

    This study suggested that kcna1 missense mutation have been related to Episodic ataxias 1.

    Episodic ataxias 1 and 2.
    Baloh RW.

    Editing of K(V)1.1 channel mRNAs disrupts binding of the N-terminus tip at the intracellular cavity.

    Editing of human K(V)1.1 channel mRNAs disrupts binding of the N-terminus tip at the intracellular cavity.
    Gonzalez C, Lopez-Rodriguez A, Srikumar D, Rosenthal JJ, Holmgren M., Free PMC Article

    Data suggest that episodic ataxia type 1 mutations affect fast inactivation of Kv1.1/1.4 channels by a reduction in either subunit surface expression or altered affinity for the inactivation domain.

    Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.
    Imbrici P, D'Adamo MC, Grottesi A, Biscarini A, Pessia M.

    Kv1.1 channels are expressed in the beta-cells of several species

    Evidence for presence and functional effects of Kv1.1 channels in β-cells: general survey and results from mceph/mceph mice.
    Ma Z, Lavebratt C, Almgren M, Portwood N, Forsberg LE, Bränström R, Berglund E, Falkmer S, Sundler F, Wierup N, Björklund A., Free PMC Article

    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.

    Medulloblastoma comprises four distinct molecular variants.
    Northcott PA, Korshunov A, Witt H, Hielscher T, Eberhart CG, Mack S, Bouffet E, Clifford SC, Hawkins CE, French P, Rutka JT, Pfister S, Taylor MD., Free PMC Article

    Studies of nerve excitability can identify K(v)1.1 dysfunction in patients with episodic ataxia type 1

    Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.
    Tomlinson SE, Tan SV, Kullmann DM, Griggs RC, Burke D, Hanna MG, Bostock H., Free PMC Article

    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators.., Free PMC Article

    Observational study of gene-disease association. (HuGE Navigator)

    Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators., NORDIL investigators., BRIGHT Consortium.., Free PMC Article

    The occurrence of epilepsy in 1 of 2 families with the F414S mutation suggests an interplay of KCNA1 with other genetic factors

    Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.
    Graves TD, Rajakulendran S, Zuberi SM, Morris HR, Schorge S, Hanna MG, Kullmann DM., Free PMC Article

    An asparagine at position 255 in Kv1.1 is required for normal voltage dependence and kinetics of channel gating.

    Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.
    van der Wijst J, Glaudemans B, Venselaar H, Nair AV, Forst AL, Hoenderop JG, Bindels RJ., Free PMC Article

    This study suggested that KCNA1 mutations are associated with a broader clinical phenotype, which may include persistent cerebellar dysfunction and cognitive delay.

    A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
    Demos MK, Macri V, Farrell K, Nelson TN, Chapman K, Accili E, Armstrong L.

    Contribution of the central hydrophobic residue in the PXP motif of voltage-dependent K+ channels, KCNA1, to S6 flexibility and gating properties.

    Contribution of the central hydrophobic residue in the PXP motif of voltage-dependent K+ channels to S6 flexibility and gating properties.
    Imbrici P, Grottesi A, D'Adamo MC, Mannucci R, Tucker SJ, Pessia M.

    studied a family with isolated autosomal dominant hypomagnesemia and used a positional cloning approach to identify an N255D mutation in KCNA1

    A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.
    Glaudemans B, van der Wijst J, Scola RH, Lorenzoni PJ, Heister A, van der Kemp AW, Knoers NV, Hoenderop JG, Bindels RJ., Free PMC Article

    A novel missense mutation (F414C) KCNA1 identified in an Italian family affected by episodic ataxia type 1.

    A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.
    Imbrici P, Gualandi F, D'Adamo MC, Masieri MT, Cudia P, De Grandis D, Mannucci R, Nicoletti I, Tucker SJ, Ferlini A, Pessia M.

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