BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

240 related articles for article (PubMed ID: 28666963)

  • 21. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
    Browne DL; Gancher ST; Nutt JG; Brunt ER; Smith EA; Kramer P; Litt M
    Nat Genet; 1994 Oct; 8(2):136-40. PubMed ID: 7842011
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in
    Imbrici P; Accogli A; Blunck R; Altamura C; Iacomino M; D'adamo MC; Allegri A; Pedemonte M; Brolatti N; Vari S; Cataldi M; Capra V; Gustincich S; Zara F; Desaphy JF; Fiorillo C
    Biomedicines; 2021 Jan; 9(1):. PubMed ID: 33466780
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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
    Neurogenetics; 2016 Jan; 17(1):11-6. PubMed ID: 26395884
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
    Verdura E; Fons C; Schlüter A; Ruiz M; Fourcade S; Casasnovas C; Castellano A; Pujol A
    J Med Genet; 2020 Feb; 57(2):132-137. PubMed ID: 31586945
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.
    Shook SJ; Mamsa H; Jen JC; Baloh RW; Zhou L
    Muscle Nerve; 2008 Mar; 37(3):399-402. PubMed ID: 17912752
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.
    Eunson LH; Rea R; Zuberi SM; Youroukos S; Panayiotopoulos CP; Liguori R; Avoni P; McWilliam RC; Stephenson JB; Hanna MG; Kullmann DM; Spauschus A
    Ann Neurol; 2000 Oct; 48(4):647-56. PubMed ID: 11026449
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine.
    Manville RW; Abbott GW
    J Pharmacol Exp Ther; 2020 Jun; 373(3):391-401. PubMed ID: 32217768
    [TBL] [Abstract][Full Text] [Related]  

  • 28. An activator of voltage-gated K
    Servettini I; Talani G; Megaro A; Setzu MD; Biggio F; Briffa M; Guglielmi L; Savalli N; Binda F; Delicata F; Bru-Mercier G; Vassallo N; Maglione V; Cauchi RJ; Di Pardo A; Collu M; Imbrici P; Catacuzzeno L; D'Adamo MC; Olcese R; Pessia M
    Proc Natl Acad Sci U S A; 2023 Aug; 120(31):e2207978120. PubMed ID: 37487086
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels.
    Imbrici P; Cusimano A; D'Adamo MC; De Curtis A; Pessia M
    Pflugers Arch; 2003 Jun; 446(3):373-9. PubMed ID: 12799903
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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
    Pharmacol Ther; 2016 Mar; 159():93-101. PubMed ID: 26825872
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.
    Rajakulendran S; Tan SV; Matthews E; Tomlinson SE; Labrum R; Sud R; Kullmann DM; Schorge S; Hanna MG
    Neurology; 2009 Sep; 73(12):993-5. PubMed ID: 19770477
    [No Abstract]   [Full Text] [Related]  

  • 32. Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
    Graves TD; Cha YH; Hahn AF; Barohn R; Salajegheh MK; Griggs RC; Bundy BN; Jen JC; Baloh RW; Hanna MG;
    Brain; 2014 Apr; 137(Pt 4):1009-18. PubMed ID: 24578548
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Electromechanical coupling of the Kv1.1 voltage-gated K
    Hasan S; Megaro A; Cenciarini M; Coretti L; Botti FM; Imbrici P; Steinbusch HWM; Hunter T; Hunter G; Pessia M; D'Adamo MC
    Pflugers Arch; 2020 Jul; 472(7):899-909. PubMed ID: 32577860
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Kv1.1 channelopathy abolishes presynaptic spike width modulation by subthreshold somatic depolarization.
    Vivekananda U; Novak P; Bello OD; Korchev YE; Krishnakumar SS; Volynski KE; Kullmann DM
    Proc Natl Acad Sci U S A; 2017 Feb; 114(9):2395-2400. PubMed ID: 28193892
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release.
    Heeroma JH; Henneberger C; Rajakulendran S; Hanna MG; Schorge S; Kullmann DM
    Dis Model Mech; 2009; 2(11-12):612-9. PubMed ID: 19779067
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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
    J Biol Chem; 2010 Jan; 285(1):171-8. PubMed ID: 19903818
    [TBL] [Abstract][Full Text] [Related]  

  • 37. De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
    Rogers A; Golumbek P; Cellini E; Doccini V; Guerrini R; Wallgren-Pettersson C; Thuresson AC; Gurnett CA
    Am J Med Genet A; 2018 Aug; 176(8):1748-1752. PubMed ID: 30055040
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel KCNA1 mutation causing episodic ataxia type I.
    Lassche S; Lainez S; Bloem BR; van de Warrenburg BP; Hofmeijer J; Lemmink HH; Hoenderop JG; Bindels RJ; Drost G
    Muscle Nerve; 2014 Aug; 50(2):289-91. PubMed ID: 24639406
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in
    Lauxmann S; Sonnenberg L; Koch NA; Bosselmann C; Winter N; Schwarz N; Wuttke TV; Hedrich UBS; Liu Y; Lerche H; Benda J; Kegele J
    Front Neurol; 2021; 12():703970. PubMed ID: 34566847
    [No Abstract]   [Full Text] [Related]  

  • 40. Three novel KCNA1 mutations in episodic ataxia type I families.
    Scheffer H; Brunt ER; Mol GJ; van der Vlies P; Stulp RP; Verlind E; Mantel G; Averyanov YN; Hofstra RM; Buys CH
    Hum Genet; 1998 Apr; 102(4):464-6. PubMed ID: 9600245
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.