BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

446 related articles for article (PubMed ID: 18640800)

  • 1. 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]  

  • 2. 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]  

  • 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. 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]  

  • 5. KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2.
    Ishii A; Miyajima T; Kurahashi H; Wang JW; Yasumoto S; Kaneko S; Hirose S
    Epilepsy Res; 2012 Nov; 102(1-2):122-5. PubMed ID: 22884718
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Benign familial neonatal convulsions: novel mutation in a newborn.
    Lee IC; Chen JY; Chen YJ; Yu JS; Su PH
    Pediatr Neurol; 2009 May; 40(5):387-91. PubMed ID: 19380078
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family.
    Tang B; Li H; Xia K; Jiang H; Pan Q; Shen L; Long Z; Zhao G; Cai F
    J Neurol Sci; 2004 Jun; 221(1-2):31-4. PubMed ID: 15178210
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
    Singh NA; Charlier C; Stauffer D; DuPont BR; Leach RJ; Melis R; Ronen GM; Bjerre I; Quattlebaum T; Murphy JV; McHarg ML; Gagnon D; Rosales TO; Peiffer A; Anderson VE; Leppert M
    Nat Genet; 1998 Jan; 18(1):25-9. PubMed ID: 9425895
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
    Zara F; Specchio N; Striano P; Robbiano A; Gennaro E; Paravidino R; Vanni N; Beccaria F; Capovilla G; Bianchi A; Caffi L; Cardilli V; Darra F; Bernardina BD; Fusco L; Gaggero R; Giordano L; Guerrini R; Incorpora G; Mastrangelo M; Spaccini L; Laverda AM; Vecchi M; Vanadia F; Veggiotti P; Viri M; Occhi G; Budetta M; Taglialatela M; Coviello DA; Vigevano F; Minetti C
    Epilepsia; 2013 Mar; 54(3):425-36. PubMed ID: 23360469
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Benign familial neonatal convulsions: always benign?
    Steinlein OK; Conrad C; Weidner B
    Epilepsy Res; 2007 Mar; 73(3):245-9. PubMed ID: 17129708
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.
    de Haan GJ; Pinto D; Carton D; Bader A; Witte J; Peters E; van Erp G; Vandereyken W; Boezeman E; Wapenaar MC; Boon P; Halley D; Koeleman BP; Lindhout D
    Epilepsia; 2006 May; 47(5):851-9. PubMed ID: 16686649
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Site-directed mutagenesis and protein expression of KCNQ2 gene associated with neonatal convulsions].
    Zhou XH; Hui ZY; Shi RM; Song HX; Zhang W; Liu L
    Zhongguo Dang Dai Er Ke Za Zhi; 2011 Aug; 13(8):611-6. PubMed ID: 21849107
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family.
    Lee WL; Biervert C; Hallmann K; Tay A; Dean JC; Steinlein OK
    Neuropediatrics; 2000 Feb; 31(1):9-12. PubMed ID: 10774989
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 23.