BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

413 related articles for article (PubMed ID: 19559753)

  • 1. Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.
    Volkers L; Rook MB; Das JH; Verbeek NE; Groenewegen WA; van Kempen MJ; Lindhout D; Koeleman BP
    Neurosci Lett; 2009 Oct; 462(1):24-9. PubMed ID: 19559753
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC).
    Sugiura Y; Nakatsu F; Hiroyasu K; Ishii A; Hirose S; Okada M; Jibiki I; Ohno H; Kaneko S; Ugawa Y
    Epilepsy Res; 2009 Mar; 84(1):82-5. PubMed ID: 19167866
    [TBL] [Abstract][Full Text] [Related]  

  • 3. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.
    Singh NA; Westenskow P; Charlier C; Pappas C; Leslie J; Dillon J; Anderson VE; Sanguinetti MC; Leppert MF;
    Brain; 2003 Dec; 126(Pt 12):2726-37. PubMed ID: 14534157
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions.
    Otto JF; Singh NA; Dahle EJ; Leppert MF; Pappas CM; Pruess TH; Wilcox KS; White HS
    Epilepsia; 2009 Jul; 50(7):1752-9. PubMed ID: 19453707
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes.
    Hahn A; Neubauer BA
    Brain Dev; 2009 Aug; 31(7):515-20. PubMed ID: 19464834
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC).
    Yalçin O; Cağlayan SH; Saltik S; Cokar O; Ağan K; Dervent A; Steinlein OK
    Turk J Pediatr; 2007; 49(4):385-9. PubMed ID: 18246739
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Calmodulin regulates the trafficking of KCNQ2 potassium channels.
    Etxeberria A; Aivar P; Rodriguez-Alfaro JA; Alaimo A; Villacé P; Gómez-Posada JC; Areso P; Villarroel A
    FASEB J; 2008 Apr; 22(4):1135-43. PubMed ID: 17993630
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.
    Ishii A; Fukuma G; Uehara A; Miyajima T; Makita Y; Hamachi A; Yasukochi M; Inoue T; Yasumoto S; Okada M; Kaneko S; Mitsudome A; Hirose S
    Brain Dev; 2009 Jan; 31(1):27-33. PubMed ID: 18640800
    [TBL] [Abstract][Full Text] [Related]  

  • 9. N-(6-chloro-pyridin-3-yl)-3,4-difluoro-benzamide (ICA-27243): a novel, selective KCNQ2/Q3 potassium channel activator.
    Wickenden AD; Krajewski JL; London B; Wagoner PK; Wilson WA; Clark S; Roeloffs R; McNaughton-Smith G; Rigdon GC
    Mol Pharmacol; 2008 Mar; 73(3):977-86. PubMed ID: 18089837
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy.
    Hunter J; Maljevic S; Shankar A; Siegel A; Weissman B; Holt P; Olson L; Lerche H; Escayg A
    Neurobiol Dis; 2006 Oct; 24(1):194-201. PubMed ID: 16916607
    [TBL] [Abstract][Full Text] [Related]  

  • 11. KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.
    Neubauer BA; Waldegger S; Heinzinger J; Hahn A; Kurlemann G; Fiedler B; Eberhard F; Muhle H; Stephani U; Garkisch S; Eeg-Olofsson O; Müller U; Sander T
    Neurology; 2008 Jul; 71(3):177-83. PubMed ID: 18625963
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions.
    Soldovieri MV; Castaldo P; Iodice L; Miceli F; Barrese V; Bellini G; Miraglia del Giudice E; Pascotto A; Bonatti S; Annunziato L; Taglialatela M
    J Biol Chem; 2006 Jan; 281(1):418-28. PubMed ID: 16260777
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Developmental changes in KCNQ2 and KCNQ3 expression in human brain: possible contribution to the age-dependent etiology of benign familial neonatal convulsions.
    Kanaumi T; Takashima S; Iwasaki H; Itoh M; Mitsudome A; Hirose S
    Brain Dev; 2008 May; 30(5):362-9. PubMed ID: 18166285
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.
    Schroeder BC; Kubisch C; Stein V; Jentsch TJ
    Nature; 1998 Dec; 396(6712):687-90. PubMed ID: 9872318
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [A novel mutation of KCNQ2 gene in a Chinese family with benign familial neonatal convulsions].
    Li HY; Tang BS; Zhang AM; Cao QH; Meng GL; Jiang H; Shen L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Dec; 20(6):482-5. PubMed ID: 14669214
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.
    Miraglia del Giudice E; Coppola G; Scuccimarra G; Cirillo G; Bellini G; Pascotto A
    Eur J Hum Genet; 2000 Dec; 8(12):994-7. PubMed ID: 11175290
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes.
    Pereira S; Roll P; Krizova J; Genton P; Brazdil M; Kuba R; Cau P; Rektor I; Szepetowski P
    Epilepsia; 2004 Apr; 45(4):384-90. PubMed ID: 15030501
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).
    Bassi MT; Balottin U; Panzeri C; Piccinelli P; Castaldo P; Barrese V; Soldovieri MV; Miceli F; Colombo M; Bresolin N; Borgatti R; Taglialatela M
    Neurogenetics; 2005 Dec; 6(4):185-93. PubMed ID: 16235065
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel mutation in KCNQ2 causing benign familial neonatal seizures.
    Goldberg-Stern H; Kaufmann R; Kivity S; Afawi Z; Heron SE
    Pediatr Neurol; 2009 Nov; 41(5):367-70. PubMed ID: 19818940
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization.
    Singh NA; Otto JF; Dahle EJ; Pappas C; Leslie JD; Vilaythong A; Noebels JL; White HS; Wilcox KS; Leppert MF
    J Physiol; 2008 Jul; 586(14):3405-23. PubMed ID: 18483067
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.