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Journal Abstract Search

173 related items for PubMed ID: 11175290

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  • 3. 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
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  • 5. 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; 126(Pt 12):2726-37. PubMed ID: 14534157
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  • 6. 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
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  • 9. 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
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  • 15. Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.
    Dedek K, Fusco L, Teloy N, Steinlein OK.
    Epilepsy Res; 2003 Apr; 54(1):21-7. PubMed ID: 12742592
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  • 16. 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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  • 17. Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes.
    Hahn A, Neubauer BA.
    Brain Dev; 2009 Aug 17; 31(7):515-20. PubMed ID: 19464834
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  • 20. Benign familial neonatal convulsions: always benign?
    Steinlein OK, Conrad C, Weidner B.
    Epilepsy Res; 2007 Mar 17; 73(3):245-9. PubMed ID: 17129708
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