메뉴 건너뛰기




Volumn 75, Issue 4, 2014, Pages 581-590

KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; POTASSIUM CHANNEL KCNT1; QUINIDINE; UNCLASSIFIED DRUG; VOLTAGE GATED POTASSIUM CHANNEL;

EID: 84899952041     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24128     Document Type: Article
Times cited : (218)

References (31)
  • 1
    • 57449084568 scopus 로고    scopus 로고
    • Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability
    • Derry CP, Heron SE, Phillips F, et al. Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. Epilepsia 2008; 49: 2125-2129.
    • (2008) Epilepsia , vol.49 , pp. 2125-2129
    • Derry, C.P.1    Heron, S.E.2    Phillips, F.3
  • 2
    • 0029088705 scopus 로고
    • Migrating partial seizures in infancy: A malignant disorder with developmental arrest
    • Coppola PP, Chirin C, Robain O, Dulac O,. Migrating partial seizures in infancy: a malignant disorder with developmental arrest. Epilepsia 1995; 36: 1017-1024.
    • (1995) Epilepsia , vol.36 , pp. 1017-1024
    • Coppola, P.P.1    Chirin, C.2    Robain, O.3    Dulac, O.4
  • 3
    • 77950857874 scopus 로고    scopus 로고
    • Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
    • Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010; 51: 676-685.
    • (2010) Epilepsia , vol.51 , pp. 676-685
    • Berg, A.T.1    Berkovic, S.F.2    Brodie, M.J.3
  • 4
    • 84892557537 scopus 로고    scopus 로고
    • Nicotinic acetylcholine receptor mutations
    • 4th ed. Available at:. PMID: 22787678.
    • Steinlein OK, Kaneko S, Hirose S,. Nicotinic acetylcholine receptor mutations. Jasper's basic mechanisms of the epilepsies. 4th ed. 2012. Available at: http://www.ncbi.nlm.nih.gov/books/NBK98138/. PMID: 22787678.
    • (2012) Jasper's Basic Mechanisms of the Epilepsies
    • Steinlein, O.K.1    Kaneko, S.2    Hirose, S.3
  • 5
    • 84868196552 scopus 로고    scopus 로고
    • Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
    • Heron SE, Smith KR, Bahlo M, et al. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 2012; 44: 1188-1190.
    • (2012) Nat Genet , vol.44 , pp. 1188-1190
    • Heron, S.E.1    Smith, K.R.2    Bahlo, M.3
  • 6
    • 84868196065 scopus 로고    scopus 로고
    • De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
    • Barcia G, Fleming MR, Deligniere A, et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet 2012; 44: 1255-1260.
    • (2012) Nat Genet , vol.44 , pp. 1255-1260
    • Barcia, G.1    Fleming, M.R.2    Deligniere, A.3
  • 7
    • 84885425279 scopus 로고    scopus 로고
    • A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy
    • Ishii A, Shioda M, Okumura A, et al. A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. Gene 2013; 531: 467-471.
    • (2013) Gene , vol.531 , pp. 467-471
    • Ishii, A.1    Shioda, M.2    Okumura, A.3
  • 8
    • 84876723381 scopus 로고    scopus 로고
    • Migrating partial seizures of infancy: Expansion of the electroclinical, radiological and pathological disease spectrum
    • McTague A, Appleton R, Avula S, et al. Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain 2013; 136: 1578-1591.
    • (2013) Brain , vol.136 , pp. 1578-1591
    • McTague, A.1    Appleton, R.2    Avula, S.3
  • 9
    • 84884130368 scopus 로고    scopus 로고
    • De novo mutations in epileptic encephalopathies
    • Epi4K Consortium and Epilepsy Phenome/Genome Project.
    • Epi4K Consortium and Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature 2013; 501: 217-221.
    • (2013) Nature , vol.501 , pp. 217-221
  • 10
    • 0032174282 scopus 로고    scopus 로고
    • Formation of intermediate-conductance calcium-activated potassium channels by interaction of Slack and Slo subunits
    • Joiner WJ, Tang MD, Wang L-Y, et al. Formation of intermediate- conductance calcium-activated potassium channels by interaction of Slack and Slo subunits. Nat Neurosci 1998; 1: 462-469.
    • (1998) Nat Neurosci , vol.1 , pp. 462-469
    • Joiner, W.J.1    Tang, M.D.2    Wang, L.-Y.3
  • 11
    • 0347694860 scopus 로고    scopus 로고
    • Slick (Slo2.1), a rapidly-gating sodium-activated potassium channel inhibited by ATP
    • Bhattacharjee A, Joiner WJ, Wu M, et al. Slick (Slo2.1), a rapidly-gating sodium-activated potassium channel inhibited by ATP. J Neurosci 2003; 23: 11681-11691.
    • (2003) J Neurosci , vol.23 , pp. 11681-11691
    • Bhattacharjee, A.1    Joiner, W.J.2    Wu, M.3
  • 12
    • 0037421995 scopus 로고    scopus 로고
    • The sodium-activated potassium channel is encoded by a member of the Slo gene family
    • Yuan A, Santi CM, Wei A, et al. The sodium-activated potassium channel is encoded by a member of the Slo gene family. Neuron 2003; 37: 765-773.
    • (2003) Neuron , vol.37 , pp. 765-773
    • Yuan, A.1    Santi, C.M.2    Wei, A.3
  • 13
    • 0037121756 scopus 로고    scopus 로고
    • Localization of the Slack potassium channel in the rat central nervous system
    • Bhattacharjee A, Gan L, Kaczmarek LK,. Localization of the Slack potassium channel in the rat central nervous system. J Comp Neurol 2002; 454: 241-254.
    • (2002) J Comp Neurol , vol.454 , pp. 241-254
    • Bhattacharjee, A.1    Gan, L.2    Kaczmarek, L.K.3
  • 15
    • 33646949933 scopus 로고    scopus 로고
    • Opposite regulation of Slick and Slack K channels by neuromodulators
    • Santi CM, Ferreira G, Yang B, et al. Opposite regulation of Slick and Slack K channels by neuromodulators. J Neurosci 2006; 26: 5059-5068.
    • (2006) J Neurosci , vol.26 , pp. 5059-5068
    • Santi, C.M.1    Ferreira, G.2    Yang, B.3
  • 16
    • 33747836278 scopus 로고    scopus 로고
    • Pharmacological activation and inhibition of Slack (Slo2.2) channels
    • Yang B, Gribkoff VK, Pan J, et al. Pharmacological activation and inhibition of Slack (Slo2.2) channels. Neuropharmacology 2006; 51: 896-906.
    • (2006) Neuropharmacology , vol.51 , pp. 896-906
    • Yang, B.1    Gribkoff, V.K.2    Pan, J.3
  • 17
    • 0026485457 scopus 로고
    • + channel determined by construction of multimeric cDNAs
    • + channel determined by construction of multimeric cDNAs. Neuron 1992; 9: 861-871.
    • (1992) Neuron , vol.9 , pp. 861-871
    • Lima, E.R.1    Tytgat, J.2    Hess, P.3
  • 18
    • 0031567594 scopus 로고    scopus 로고
    • P2X7 purinoceptor expression in Xenopus oocytes is not sufficient to produce a pore-forming P2Z-like phenotype
    • Petrou S, Ugur M, Drummond RM, et al. P2X7 purinoceptor expression in Xenopus oocytes is not sufficient to produce a pore-forming P2Z-like phenotype. FEBS Lett 1997; 411: 339-345.
    • (1997) FEBS Lett , vol.411 , pp. 339-345
    • Petrou, S.1    Ugur, M.2    Drummond, R.M.3
  • 19
    • 45449087921 scopus 로고    scopus 로고
    • QBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data
    • Hellemans J, Mortier G, De Paepe A, et al. qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data. Genome Biol 2007; 8: R19.1-R19.14.
    • (2007) Genome Biol , vol.8
    • Hellemans, J.1    Mortier, G.2    De Paepe, A.3
  • 20
    • 0037129827 scopus 로고    scopus 로고
    • Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes
    • Vandesompele J, De Preter K, Pattyn F, et al. Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol 2002; 3:RESEARCH0034.
    • (2002) Genome Biol , vol.3
    • Vandesompele, J.1    De Preter, K.2    Pattyn, F.3
  • 21
    • 33745124384 scopus 로고    scopus 로고
    • Molecular diversity of voltage-gated sodium channel α and β subunit mRNAs in human tissues
    • Candenas L, Seda M, Noheda P, et al. Molecular diversity of voltage-gated sodium channel α and β subunit mRNAs in human tissues. Eur J Pharmacol 2006; 541: 9-16.
    • (2006) Eur J Pharmacol , vol.541 , pp. 9-16
    • Candenas, L.1    Seda, M.2    Noheda, P.3
  • 22
    • 84884592445 scopus 로고    scopus 로고
    • Genic intolerance to functional variation and the interpretation of personal genomes
    • Petrovski S, Wang Q, Heinzen EL, et al. Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet 2013; 9: 1-13.
    • (2013) PLoS Genet , vol.9 , pp. 1-13
    • Petrovski, S.1    Wang, Q.2    Heinzen, E.L.3
  • 24
    • 13844276198 scopus 로고    scopus 로고
    • Sodium-dependent plateau potentials in electrocytes of the electric fish Gymnotus carapo
    • Sierra F, Comas V, Buno W, Macadar O,. Sodium-dependent plateau potentials in electrocytes of the electric fish Gymnotus carapo. J Comp Physiol 2005; 191: 1-11.
    • (2005) J Comp Physiol , vol.191 , pp. 1-11
    • Sierra, F.1    Comas, V.2    Buno, W.3    MacAdar, O.4
  • 25
    • 84878503927 scopus 로고    scopus 로고
    • A sodium-activated potassium channel supports high-frequency firing and reduces energetic costs during rapid modulations of action potential amplitude
    • Markham M, Kaczmarek LK, Zakon HH,. A sodium-activated potassium channel supports high-frequency firing and reduces energetic costs during rapid modulations of action potential amplitude. J Neurophysiol 2013; 109: 1713-1723.
    • (2013) J Neurophysiol , vol.109 , pp. 1713-1723
    • Markham, M.1    Kaczmarek, L.K.2    Zakon, H.H.3
  • 26
    • 22844445484 scopus 로고    scopus 로고
    • Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder
    • Du W, Bautista JF, Yang H, et al. Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet 2005; 37: 733-738.
    • (2005) Nat Genet , vol.37 , pp. 733-738
    • Du, W.1    Bautista, J.F.2    Yang, H.3
  • 30
    • 0022359878 scopus 로고
    • Analysis of nonlinear tissue distribution of quinidine in rats by physiologically based pharmacokinetics
    • Harashima H, Sawada Y, Sugiyama Y, et al. Analysis of nonlinear tissue distribution of quinidine in rats by physiologically based pharmacokinetics. J Pharmacokinet Biopharm 1985; 13: 425-440.
    • (1985) J Pharmacokinet Biopharm , vol.13 , pp. 425-440
    • Harashima, H.1    Sawada, Y.2    Sugiyama, Y.3
  • 31
    • 0026007021 scopus 로고
    • Selective inhibition of potassium currents in rat ventricle by clofilium and its tertiary homolog
    • Castle NA,. Selective inhibition of potassium currents in rat ventricle by clofilium and its tertiary homolog. J Pharmacol Exp Ther 1991; 257: 342-350.
    • (1991) J Pharmacol Exp Ther , vol.257 , pp. 342-350
    • Castle, N.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.