메뉴 건너뛰기




Volumn 63, Issue 9, 2004, Pages 1647-1655

Correlating phenotype and genotype in the periodic paralyses

(15)  Miller, T M a   Dias Da Silva, M R a   Miller, H A a   Kwiecinski, H b   Mendell, J R c   Tawil, R d   McManis, P e   Griggs, R C d   Angelini, C f   Servidei, S g   Petajan, J h   Dalakas, M C i   Ranum, L P W j   Fu, Y H a   Ptacek L J a,k  


Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; CALCIUM CHANNEL N TYPE; POTASSIUM; POTASSIUM CHANNEL; SODIUM CHANNEL;

EID: 8644259260     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000143383.91137.00     Document Type: Article
Times cited : (206)

References (38)
  • 1
    • 0036310758 scopus 로고    scopus 로고
    • An expanding view for the molecular basis of familial periodic paralysis
    • Cannon SC. An expanding view for the molecular basis of familial periodic paralysis. Neuromuscul Disord 2002;12:533-543.
    • (2002) Neuromuscul Disord , vol.12 , pp. 533-543
    • Cannon, S.C.1
  • 2
    • 0036365532 scopus 로고    scopus 로고
    • Periodic paralyses and nondystrophic myotonias
    • Renner DR, Ptacek LJ. Periodic paralyses and nondystrophic myotonias. Adv Neurol 2002;88:235-252.
    • (2002) Adv Neurol , vol.88 , pp. 235-252
    • Renner, D.R.1    Ptacek, L.J.2
  • 3
    • 0025774566 scopus 로고
    • A sodium channel defect in hyperkalemic periodic paralysis: Potassium-induced failure of inactivation
    • Cannon SC, Brown RH, Jr., Corey DP. A sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivation. Neuron 1991;6:619-626.
    • (1991) Neuron , vol.6 , pp. 619-626
    • Cannon, S.C.1    Brown Jr., R.H.2    Corey, D.P.3
  • 4
    • 0025790174 scopus 로고
    • Identification of a mutation in the gene causing hyperkalemic periodic paralysis
    • Ptacek LJ, George AL, Jr., Griggs RC, et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991;67:1021-1027.
    • (1991) Cell , vol.67 , pp. 1021-1027
    • Ptacek, L.J.1    George Jr., A.L.2    Griggs, R.C.3
  • 5
    • 0026317944 scopus 로고
    • Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus
    • Ptacek LJ, Tyler F, Trimmer JS, Agnew WS, Leppert M. Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus. Am J Hum Genet 1991;49:378-382.
    • (1991) Am J Hum Genet , vol.49 , pp. 378-382
    • Ptacek, L.J.1    Tyler, F.2    Trimmer, J.S.3    Agnew, W.S.4    Leppert, M.5
  • 6
    • 0025649547 scopus 로고
    • Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene
    • Fontaine B, Khurana TS, Hoffman EP, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science 1990;250(4983):1000-1002.
    • (1990) Science , vol.250 , Issue.4983 , pp. 1000-1002
    • Fontaine, B.1    Khurana, T.S.2    Hoffman, E.P.3
  • 7
    • 0027991026 scopus 로고
    • Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis
    • Ptacek LJ, Tawil R, Griggs RC, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology 1994;44:1500-1503.
    • (1994) Neurology , vol.44 , pp. 1500-1503
    • Ptacek, L.J.1    Tawil, R.2    Griggs, R.C.3
  • 8
    • 0027468893 scopus 로고
    • Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis
    • Ptacek LJ, Gouw L, Kwiecinski H, et al. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol 1993;33:300-307.
    • (1993) Ann Neurol , vol.33 , pp. 300-307
    • Ptacek, L.J.1    Gouw, L.2    Kwiecinski, H.3
  • 9
    • 0026766904 scopus 로고
    • Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
    • Ptacek LJ, George AL, Jr., Barchi RL, et al. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 1992;8:891-897.
    • (1992) Neuron , vol.8 , pp. 891-897
    • Ptacek, L.J.1    George Jr., A.L.2    Barchi, R.L.3
  • 10
    • 0026516209 scopus 로고
    • Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita
    • McClatchey AI, Van den Bergh P, Pericak-Vance MA, et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 1992;68:769-774.
    • (1992) Cell , vol.68 , pp. 769-774
    • McClatchey, A.I.1    Van Den Bergh, P.2    Pericak-Vance, M.A.3
  • 11
    • 0032801833 scopus 로고    scopus 로고
    • A novel sodium channel mutation in a family with hypokalemic periodic paralysis
    • Bulman DE, Scoggan KA, van Oene MD, et al. A novel sodium channel mutation in a family with hypokalemic periodic paralysis. Neurology 1999;53:1932-1936.
    • (1999) Neurology , vol.53 , pp. 1932-1936
    • Bulman, D.E.1    Scoggan, K.A.2    Van Oene, M.D.3
  • 12
    • 0034992428 scopus 로고    scopus 로고
    • Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A
    • Sternberg D, Maisonobe T, Jurkat-Rott K, et al. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain 2001;124(Pt 6):1091-1099.
    • (2001) Brain , vol.124 , Issue.6 PART , pp. 1091-1099
    • Sternberg, D.1    Maisonobe, T.2    Jurkat-Rott, K.3
  • 13
    • 0040565182 scopus 로고    scopus 로고
    • Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current
    • Jurkat-Rott K, Mitrovic N, Hang C, et al. Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc Natl Acad Sci USA 2000;97:9549-9554.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 9549-9554
    • Jurkat-Rott, K.1    Mitrovic, N.2    Hang, C.3
  • 14
    • 0035833968 scopus 로고    scopus 로고
    • Sodium channel gene mutations in hypokalemic periodic paralysis: An uncommon cause in the UK
    • Davies NP, Eunson LH, Samuel M, Hanna MG. Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK. Neurology 2001;57:1323-1325.
    • (2001) Neurology , vol.57 , pp. 1323-1325
    • Davies, N.P.1    Eunson, L.H.2    Samuel, M.3    Hanna, M.G.4
  • 15
    • 0034842191 scopus 로고    scopus 로고
    • Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis
    • Bendahhou S, Cummins TR, Griggs RC, Fu YH, Ptacek LJ. Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Ann Neurol 2001;50:417-420.
    • (2001) Ann Neurol , vol.50 , pp. 417-420
    • Bendahhou, S.1    Cummins, T.R.2    Griggs, R.C.3    Fu, Y.H.4    Ptacek, L.J.5
  • 16
    • 0030970835 scopus 로고    scopus 로고
    • Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis
    • Fouad G, Dalakas M, Servidei S, et al. Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul Disord 1997;7:33-38.
    • (1997) Neuromuscul Disord , vol.7 , pp. 33-38
    • Fouad, G.1    Dalakas, M.2    Servidei, S.3
  • 17
    • 0027965420 scopus 로고
    • A calcium channel mutation causing hypokalemic periodic paralysis
    • Jurkat-Rott K, Lehmann-Horn F, Elbaz A, et al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 1994;3:1415-1419.
    • (1994) Hum Mol Genet , vol.3 , pp. 1415-1419
    • Jurkat-Rott, K.1    Lehmann-Horn, F.2    Elbaz, A.3
  • 18
    • 0028234647 scopus 로고
    • Dihydropyridine receptor mutations cause hypokalemic periodic paralysis
    • Ptacek LJ, Tawil R, Griggs RC, et al. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 1994;77:863-868.
    • (1994) Cell , vol.77 , pp. 863-868
    • Ptacek, L.J.1    Tawil, R.2    Griggs, R.C.3
  • 19
    • 0036324229 scopus 로고    scopus 로고
    • Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
    • Tristani-Firouzi M, Jensen JL, Donaldson MR, et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 2002;110:381-388.
    • (2002) J Clin Invest , vol.110 , pp. 381-388
    • Tristani-Firouzi, M.1    Jensen, J.L.2    Donaldson, M.R.3
  • 20
    • 0037777713 scopus 로고    scopus 로고
    • PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome
    • Donaldson MR, Jensen JL, Tristani-Firouzi M, et al. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology 2003;60:1811-1816.
    • (2003) Neurology , vol.60 , pp. 1811-1816
    • Donaldson, M.R.1    Jensen, J.L.2    Tristani-Firouzi, M.3
  • 21
    • 0035907032 scopus 로고    scopus 로고
    • Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
    • Plaster NM, Tawil R, Tristani-Firouzi M, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001;105:511-519.
    • (2001) Cell , vol.105 , pp. 511-519
    • Plaster, N.M.1    Tawil, R.2    Tristani-Firouzi, M.3
  • 22
    • 0035951404 scopus 로고    scopus 로고
    • MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis
    • Abbott GW, Butler MH, Bendahhou S, et al. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell 2001;104:217-231.
    • (2001) Cell , vol.104 , pp. 217-231
    • Abbott, G.W.1    Butler, M.H.2    Bendahhou, S.3
  • 23
    • 0141430108 scopus 로고    scopus 로고
    • Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis
    • Sternberg D, Tabti N, Fournier E, Hainque B, Fontaine B. Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis. Neurology 2003;61:857-859.
    • (2003) Neurology , vol.61 , pp. 857-859
    • Sternberg, D.1    Tabti, N.2    Fournier, E.3    Hainque, B.4    Fontaine, B.5
  • 24
    • 0022213412 scopus 로고
    • Hypokalemic periodic paralysis secondary to renal tubular acidosis
    • Christensen KS. Hypokalemic periodic paralysis secondary to renal tubular acidosis. Eur Neurol 1985;24:303-305.
    • (1985) Eur Neurol , vol.24 , pp. 303-305
    • Christensen, K.S.1
  • 25
    • 0036845343 scopus 로고    scopus 로고
    • A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis
    • Dias Da Silva MR, Cerutti JM, Arnaldi LA, Maciel RM. A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis. J Clin Endocrinol Metab 2002;87:4881-4884.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 4881-4884
    • Dias Da Silva, M.R.1    Cerutti, J.M.2    Arnaldi, L.A.3    Maciel, R.M.4
  • 26
    • 0037465516 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum
    • Day JW, Ricker K, Jacobsen JF, et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 2003;60:657-664.
    • (2003) Neurology , vol.60 , pp. 657-664
    • Day, J.W.1    Ricker, K.2    Jacobsen, J.F.3
  • 27
    • 0035800434 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
    • Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001;293(5531):864-867.
    • (2001) Science , vol.293 , Issue.5531 , pp. 864-867
    • Liquori, C.L.1    Ricker, K.2    Moseley, M.L.3
  • 28
    • 0033842533 scopus 로고    scopus 로고
    • A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation
    • Bendahhou S, Cummins TR, Hahn AF, et al. A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation. J Clin Invest 2000;106:431-438.
    • (2000) J Clin Invest , vol.106 , pp. 431-438
    • Bendahhou, S.1    Cummins, T.R.2    Hahn, A.F.3
  • 29
    • 0027982349 scopus 로고
    • Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts
    • Ricker K, Koch MC, Lehmann-Horn F, et al. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994;44:1448-1452.
    • (1994) Neurology , vol.44 , pp. 1448-1452
    • Ricker, K.1    Koch, M.C.2    Lehmann-Horn, F.3
  • 30
    • 0141959173 scopus 로고    scopus 로고
    • Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis
    • Sugiura Y, Makita N, Li L, et al. Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis. Neurology 2003;61:914-918.
    • (2003) Neurology , vol.61 , pp. 914-918
    • Sugiura, Y.1    Makita, N.2    Li, L.3
  • 31
    • 0025062007 scopus 로고
    • Progressive myopathy in hyperkalemic periodic paralysis
    • Bradley WG, Taylor R, Rice DR, et al. Progressive myopathy in hyperkalemic periodic paralysis. Arch Neurol 1990;47:1013-1017.
    • (1990) Arch Neurol , vol.47 , pp. 1013-1017
    • Bradley, W.G.1    Taylor, R.2    Rice, D.R.3
  • 32
    • 0025670279 scopus 로고
    • Permanent muscle weakness in familial hypokalaemic periodic paralysis. Clinical, radiological and pathological aspects
    • Links TP, Zwarts MJ, Wilmink JT, Molenaar WM, Oosterhuis HJ. Permanent muscle weakness in familial hypokalaemic periodic paralysis. Clinical, radiological and pathological aspects. Brain 1990;113(Pt 6):1873-1889.
    • (1990) Brain , vol.113 , Issue.6 PART , pp. 1873-1889
    • Links, T.P.1    Zwarts, M.J.2    Wilmink, J.T.3    Molenaar, W.M.4    Oosterhuis, H.J.5
  • 33
    • 0028269130 scopus 로고
    • Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects
    • Links TP, Smit AJ, Molenaar WM, Zwarts MJ, Oosterhuis HJ. Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects. J Neurol Sci 1994;122:33-43.
    • (1994) J Neurol Sci , vol.122 , pp. 33-43
    • Links, T.P.1    Smit, A.J.2    Molenaar, W.M.3    Zwarts, M.J.4    Oosterhuis, H.J.5
  • 34
    • 0028854326 scopus 로고
    • Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): Genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families
    • Elbaz A, Vale-Santos J, Jurkat-Rott K, et al. Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families. Am J Hum Genet 1995;56:374-380.
    • (1995) Am J Hum Genet , vol.56 , pp. 374-380
    • Elbaz, A.1    Vale-Santos, J.2    Jurkat-Rott, K.3
  • 36
    • 0037161246 scopus 로고    scopus 로고
    • Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5
    • Bendahhou S, Cummins TR, Kula RW, Fu YH, Ptacek LJ. Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5. Neurology 2002;58:1266-1272.
    • (2002) Neurology , vol.58 , pp. 1266-1272
    • Bendahhou, S.1    Cummins, T.R.2    Kula, R.W.3    Fu, Y.H.4    Ptacek, L.J.5
  • 37
    • 0842330660 scopus 로고    scopus 로고
    • Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Nav1.4 channel
    • Kuzmenkin A, Jurkat-Rott K, Lehmann-Horn F, Mitrovic N. Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Nav1.4 channel. Pflugers Arch 2003;447: 71-77.
    • (2003) Pflugers Arch , vol.447 , pp. 71-77
    • Kuzmenkin, A.1    Jurkat-Rott, K.2    Lehmann-Horn, F.3    Mitrovic, N.4
  • 38
    • 0033958202 scopus 로고    scopus 로고
    • Randomized trials of dichlorphenamide in the periodic paralyses
    • Working Group on Periodic Paralysis
    • Tawil R, McDermott MP, Brown R, Jr., et al. Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis. Ann Neurol 2000;47:46-53.
    • (2000) Ann Neurol , vol.47 , pp. 46-53
    • Tawil, R.1    McDermott, M.P.2    Brown Jr., R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.