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204 related items for PubMed ID: 16235065

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.
    Borgatti R, Zucca C, Cavallini A, Ferrario M, Panzeri C, Castaldo P, Soldovieri MV, Baschirotto C, Bresolin N, Dalla Bernardina B, Taglialatela M, Bassi MT.
    Neurology; 2004 Jul 13; 63(1):57-65. PubMed ID: 15249611
    [Abstract] [Full Text] [Related]

  • 3. Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.
    Soldovieri MV, Cilio MR, Miceli F, Bellini G, Miraglia del Giudice E, Castaldo P, Hernandez CC, Shapiro MS, Pascotto A, Annunziato L, Taglialatela M.
    J Neurosci; 2007 May 02; 27(18):4919-28. PubMed ID: 17475800
    [Abstract] [Full Text] [Related]

  • 4. 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 06; 281(1):418-28. PubMed ID: 16260777
    [Abstract] [Full Text] [Related]

  • 5. Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.
    Soldovieri MV, Boutry-Kryza N, Milh M, Doummar D, Heron B, Bourel E, Ambrosino P, Miceli F, De Maria M, Dorison N, Auvin S, Echenne B, Oertel J, Riquet A, Lambert L, Gerard M, Roubergue A, Calender A, Mignot C, Taglialatela M, Lesca G.
    Hum Mutat; 2014 Mar 06; 35(3):356-67. PubMed ID: 24375629
    [Abstract] [Full Text] [Related]

  • 6. 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, BFNC Physician Consortium.
    Brain; 2003 Dec 06; 126(Pt 12):2726-37. PubMed ID: 14534157
    [Abstract] [Full Text] [Related]

  • 7. 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 06; 50(7):1752-9. PubMed ID: 19453707
    [Abstract] [Full Text] [Related]

  • 8. 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 02; 462(1):24-9. PubMed ID: 19559753
    [Abstract] [Full Text] [Related]

  • 9. [A novel mutation in KCNQ2 gene causes benign familial infantile convulsions (BFIC) in a Chinese family].
    Zhou XH, Ma AQ, Liu XH, Huang C, Zhang YM, Shi RM.
    Zhonghua Er Ke Za Zhi; 2006 Jul 02; 44(7):487-91. PubMed ID: 17044971
    [Abstract] [Full Text] [Related]

  • 10. 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 02; 84(1):82-5. PubMed ID: 19167866
    [Abstract] [Full Text] [Related]

  • 11. 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 Mar 02; 49(4):385-9. PubMed ID: 18246739
    [Abstract] [Full Text] [Related]

  • 12. [Clinical and mutational analysis of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions].
    Li HY, Tang BS, Yan XX, Guo JF, Shen L, Song YM, Jiang H, Xia K, Xie ZG, Yang QA.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Aug 02; 23(4):374-7. PubMed ID: 16883520
    [Abstract] [Full Text] [Related]

  • 13. Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels.
    Castaldo P, del Giudice EM, Coppola G, Pascotto A, Annunziato L, Taglialatela M.
    J Neurosci; 2002 Jan 15; 22(2):RC199. PubMed ID: 11784811
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 586(14):3405-23. PubMed ID: 18483067
    [Abstract] [Full Text] [Related]

  • 15. Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion.
    Sadewa AH, Sasongko TH, Gunadi, Lee MJ, Daikoku K, Yamamoto A, Yamasaki T, Tanaka S, Matsuo M, Nishio H.
    Pediatr Int; 2008 Apr 15; 50(2):167-71. PubMed ID: 18353052
    [Abstract] [Full Text] [Related]

  • 16. A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions.
    Li H, Li N, Shen L, Jiang H, Yang Q, Song Y, Guo J, Xia K, Pan Q, Tang B.
    Epilepsy Res; 2008 Mar 15; 79(1):1-5. PubMed ID: 18249525
    [Abstract] [Full Text] [Related]

  • 17. The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.
    Yum MS, Ko TS, Yoo HW.
    J Korean Med Sci; 2010 Feb 15; 25(2):324-6. PubMed ID: 20119593
    [Abstract] [Full Text] [Related]

  • 18. Role of KCNQ2 and KCNQ3 genes in juvenile idiopathic epilepsy in Arabian foals.
    Lichter-Peled A, Polani S, Stanyon R, Rocchi M, Kahila Bar-Gal G.
    Vet J; 2013 Apr 15; 196(1):57-63. PubMed ID: 23182620
    [Abstract] [Full Text] [Related]

  • 19. A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes.
    Coppola G, Castaldo P, Miraglia del Giudice E, Bellini G, Galasso F, Soldovieri MV, Anzalone L, Sferro C, Annunziato L, Pascotto A, Taglialatela M.
    Neurology; 2003 Jul 08; 61(1):131-4. PubMed ID: 12847176
    [Abstract] [Full Text] [Related]

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