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Journal Abstract Search

251 related items for PubMed ID: 15249611

  • 1.
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  • 2. 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
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  • 3. 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 02; 6(4):185-93. PubMed ID: 16235065
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  • 5. 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
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  • 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 Jan 15; 49(4):385-9. PubMed ID: 18246739
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  • 7. 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 15; 35(3):356-67. PubMed ID: 24375629
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  • 8. 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 15; 8(12):994-7. PubMed ID: 11175290
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  • 11. Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.
    Miceli F, Soldovieri MV, Ambrosino P, Barrese V, Migliore M, Cilio MR, Taglialatela M.
    Proc Natl Acad Sci U S A; 2013 Mar 12; 110(11):4386-91. PubMed ID: 23440208
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  • 14. [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 12; 44(7):487-91. PubMed ID: 17044971
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  • 15. De novo KCNQ2 mutations in patients with benign neonatal seizures.
    Claes LR, Ceulemans B, Audenaert D, Deprez L, Jansen A, Hasaerts D, Weckx S, Claeys KG, Del-Favero J, Van Broeckhoven C, De Jonghe P.
    Neurology; 2004 Dec 14; 63(11):2155-8. PubMed ID: 15596769
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  • 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 14; 25(2):324-6. PubMed ID: 20119593
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  • 18. 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 17; 396(6712):687-90. PubMed ID: 9872318
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  • 19. 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]

  • 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 02; 31(1):9-12. PubMed ID: 10774989
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