메뉴 건너뛰기




Volumn 22, Issue 5, 2009, Pages 524-531

Skeletal muscle channelopathies: New insights into the periodic paralyses and nondystrophic myotonias

Author keywords

Channelopathies; Myotonia; Periodic paralysis; Ryanodine receptor

Indexed keywords

ACETAZOLAMIDE; CALCIUM CHANNEL; CARBAMAZEPINE; CHLORIDE CHANNEL; DICLOFENAMIDE; FLECAINIDE; MEXILETINE; PHENYTOIN; PLACEBO; POTASSIUM CHANNEL; POTASSIUM CHLORIDE; PROPAFENONE; SODIUM CHANNEL; TOCAINIDE;

EID: 70349667578     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/WCO.0b013e32832efa8f     Document Type: Review
Times cited : (41)

References (85)
  • 1
    • 0028880603 scopus 로고
    • Hereditary nondystrophic myotonias and periodic paralyses
    • Lehmann-Horn F, Rudel R. Hereditary nondystrophic myotonias and periodic paralyses. Curr Opin Neurol 1995; 8:402-410.
    • (1995) Curr Opin Neurol , vol.8 , pp. 402-410
    • Lehmann-Horn, F.1    Rudel, R.2
  • 2
    • 0015170319 scopus 로고
    • Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids
    • Bryant SH, Morales-Aguilera A. Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids. J Physiol 1971; 219:367-383.
    • (1971) J Physiol , vol.219 , pp. 367-383
    • Bryant, S.H.1    Morales-Aguilera, A.2
  • 3
    • 39749157302 scopus 로고    scopus 로고
    • F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulumexport of the muscle-specific chloride channel CLC-1
    • Papponen H, Nissinen M, Kaisto T, et al. F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulumexport of the muscle-specific chloride channel CLC-1. Muscle Nerve 2008; 37:317-325.
    • (2008) Muscle Nerve , vol.37 , pp. 317-325
    • Papponen, H.1    Nissinen, M.2    Kaisto, T.3
  • 4
    • 21444456472 scopus 로고    scopus 로고
    • Phenotypic variability in myotonia congenita
    • Colding-Jorgensen E. Phenotypic variability in myotonia congenita. Muscle Nerve 2005; 32:19-34.
    • (2005) Muscle Nerve , vol.32 , pp. 19-34
    • Colding-Jorgensen, E.1
  • 5
    • 47749112058 scopus 로고    scopus 로고
    • Clinicalandmoleculardiagnosisofa Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene
    • Morales F,Cuenca P,del Valle G,et al.Clinicalandmoleculardiagnosisofa Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene. Rev Biol Trop 2008; 56:1-11.
    • (2008) Rev Biol Trop , vol.56 , pp. 1-11
    • Morales, F.1    Cuenca, P.2    Del Valle, G.3
  • 6
    • 48549102783 scopus 로고    scopus 로고
    • Novel chloride channel mutations leading to mild myotonia among Chinese
    • Burgunder JM, Huifang S, Beguin P, et al. Novel chloride channel mutations leading to mild myotonia among Chinese. Neuromuscul Disord 2008; 18:633-640.
    • (2008) Neuromuscul Disord , vol.18 , pp. 633-640
    • Burgunder, J.M.1    Huifang, S.2    Beguin, P.3
  • 7
    • 48249104688 scopus 로고    scopus 로고
    • In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with nondystrophic myotonia
    • Trip J, Drost G, Verbove DJ, et al. In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with nondystrophic myotonia. Eur J Hum Genet 2008; 16:921-929.
    • (2008) Eur J Hum Genet , vol.16 , pp. 921-929
    • Trip, J.1    Drost, G.2    Verbove, D.J.3
  • 8
    • 0037327607 scopus 로고    scopus 로고
    • Involvement of helices at the dimer interface in ClC-1 common gating
    • Duffield M, Rychkov G, Bretag A, Roberts M. Involvement of helices at the dimer interface in ClC-1 common gating. J Gen Physiol 2003; 121:149-161.
    • (2003) J Gen Physiol , vol.121 , pp. 149-161
    • Duffield, M.1    Rychkov, G.2    Bretag, A.3    Roberts, M.4
  • 9
    • 38349129948 scopus 로고    scopus 로고
    • Dosage effect of a dominant CLCN1 mutation: A novel syndrome
    • Bernard G, Poulin C, Puymirat J, et al. Dosage effect of a dominant CLCN1 mutation: a novel syndrome. J Child Neurol 2008; 23:163-166.
    • (2008) J Child Neurol , vol.23 , pp. 163-166
    • Bernard, G.1    Poulin, C.2    Puymirat, J.3
  • 11
    • 60249090267 scopus 로고    scopus 로고
    • Trunk sway analysis to quantify the warm-up phenomenon in myotonia congenita patients
    • Horlings CG, Drost G, Bloem BR, et al. Trunk sway analysis to quantify the warm-up phenomenon in myotonia congenita patients. J Neurol Neurosurg Psychiatry 2009; 80:207-212.
    • (2009) J Neurol Neurosurg Psychiatry , vol.80 , pp. 207-212
    • Horlings, C.G.1    Drost, G.2    Bloem, B.R.3
  • 12
    • 53049099136 scopus 로고    scopus 로고
    • Nongenomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita
    • Fialho D, Kullmann DM, Hanna MG, Schorge S. Nongenomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita. Neuromuscul Disord 2008; 18:869-872.
    • (2008) Neuromuscul Disord , vol.18 , pp. 869-872
    • Fialho, D.1    Kullmann, D.M.2    Hanna, M.G.3    Schorge, S.4
  • 13
    • 38949093633 scopus 로고    scopus 로고
    • Severe neonatal nondystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene
    • Gay S, Dupuis D, Faivre L, et al. Severe neonatal nondystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. Am J Med Genet A 2008; 146:380-383.
    • (2008) Am J Med Genet A , vol.146 , pp. 380-383
    • Gay, S.1    Dupuis, D.2    Faivre, L.3
  • 14
    • 33749493507 scopus 로고    scopus 로고
    • Cold extends electromyography distinction between ion channel mutations causing myotonia
    • Fournier E, Viala K, Gervais H, et al. Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006; 60:356-365.
    • (2006) Ann Neurol , vol.60 , pp. 356-365
    • Fournier, E.1    Viala, K.2    Gervais, H.3
  • 15
    • 65949098914 scopus 로고    scopus 로고
    • New mutation of the Na channel in the severe form of potassium-aggravated myotonia
    • Kubota T, Kinoshita M, Sasaki R, et al. New mutation of the Na channel in the severe form of potassium-aggravated myotonia. Muscle Nerve 2009; 39:666-673.
    • (2009) Muscle Nerve , vol.39 , pp. 666-673
    • Kubota, T.1    Kinoshita, M.2    Sasaki, R.3
  • 16
    • 37849048763 scopus 로고    scopus 로고
    • What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed
    • Matthews E, Tan SV, Fialho D, et al. What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. Neurology 2008; 70:50-53.
    • (2008) Neurology , vol.70 , pp. 50-53
    • Matthews, E.1    Tan, S.V.2    Fialho, D.3
  • 18
    • 0026050795 scopus 로고
    • Paramyotonia congenita
    • Streib EW. Paramyotonia congenita. Semin Neurol 1991; 11:249-257.
    • (1991) Semin Neurol , vol.11 , pp. 249-257
    • Streib, E.W.1
  • 19
    • 0342618296 scopus 로고    scopus 로고
    • Paramyotonia potassium-aggravated myotonias and periodic paralyses
    • 37th ENMC International Workshop Naarden The Netherlands 8-10 December 1995
    • Rudel R, Lehmann-Horn F. Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995. Neuromuscul Disord 1997; 7:127-132.
    • (1997) Neuromuscul Disord , vol.7 , pp. 127-132
    • Rudel, R.1    Lehmann-Horn, F.2
  • 20
    • 33748372269 scopus 로고    scopus 로고
    • Pathomechanisms in channelopathies of skeletal muscle and brain
    • Cannon SC. Pathomechanisms in channelopathies of skeletal muscle and brain. Annu Rev Neurosci 2006; 29:387-415.
    • (2006) Annu Rev Neurosci , vol.29 , pp. 387-415
    • Cannon, S.C.1
  • 21
    • 33947524340 scopus 로고    scopus 로고
    • Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis
    • Jurkat-Rott K, Lehmann-Horn F. Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis. Neurotherapeutics 2007; 4:216-224.
    • (2007) Neurotherapeutics , vol.4 , pp. 216-224
    • Jurkat-Rott, K.1    Lehmann-Horn, F.2
  • 22
    • 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
  • 23
    • 30344434616 scopus 로고    scopus 로고
    • The primary periodic paralyses: Diagnosis, pathogenesis and treatment
    • Venance SL, Cannon SC, Fialho D, et al. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain 2006; 129 (Pt 1):8-17.
    • (2006) Brain , vol.129 , Issue.PART 1 , pp. 8-17
    • Venance, S.L.1    Cannon, S.C.2    Fialho, D.3
  • 24
    • 0015308383 scopus 로고
    • Periodic muscle weakness, normokalemia, and tubular aggregates
    • Meyers KR, Gilden DH, Rinaldi CF, Hansen JL. Periodic muscle weakness, normokalemia, and tubular aggregates. Neurology 1972; 22:269-279.
    • (1972) Neurology , vol.22 , pp. 269-279
    • Meyers, K.R.1    Gilden, D.H.2    Rinaldi, C.F.3    Hansen, J.L.4
  • 25
    • 0009859210 scopus 로고
    • A third type of periodic paralysis, with normokalemia and favourable response to sodium chloride
    • Poskanzer DC, Kerr DN. A third type of periodic paralysis, with normokalemia and favourable response to sodium chloride. Am J Med 1961; 31:328-342.
    • (1961) Am J Med , vol.31 , pp. 328-342
    • Poskanzer, D.C.1    Kerr, D.N.2
  • 26
    • 0036327041 scopus 로고    scopus 로고
    • Normokalemic periodic paralysis revisited: Does it exist?
    • Chinnery PF, Walls TJ, Hanna MG, et al. Normokalemic periodic paralysis revisited: does it exist? Ann Neurol 2002; 52:251-252.
    • (2002) Ann Neurol , vol.52 , pp. 251-252
    • Chinnery, P.F.1    Walls, T.J.2    Hanna, M.G.3
  • 27
    • 0028221445 scopus 로고
    • Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: Phenotype to genotype correlations and demonstration of the predominance of two mutations
    • Plassart E, Reboul J, Rime CS, et al. Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.Eur JHumGenet 1994; 2:110-124.
    • (1994) Eur JHumGenet , vol.2 , pp. 110-124
    • Plassart, E.1    Reboul, J.2    Rime, C.S.3
  • 28
    • 10444273389 scopus 로고    scopus 로고
    • New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis
    • Vicart S, Sternberg D, Fournier E, et al. New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. Neurology 2004; 63:2120-2127.
    • (2004) Neurology , vol.63 , pp. 2120-2127
    • Vicart, S.1    Sternberg, D.2    Fournier, E.3
  • 29
    • 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. HumMolGenet 1994; 3:1415-1419.
    • (1994) HumMolGenet , vol.3 , pp. 1415-1419
    • Jurkat-Rott, K.1    Lehmann-Horn, F.2    Elbaz, A.3
  • 30
    • 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
  • 31
    • 33947532003 scopus 로고    scopus 로고
    • Hypokalemic periodic paralysis: A model for a clinical and research approach to a rare disorder
    • Fontaine B, Fournier E, Sternberg D, et al. Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder. Neurotherapeutics 2007; 4:225-232.
    • (2007) Neurotherapeutics , vol.4 , pp. 225-232
    • Fontaine, B.1    Fournier, E.2    Sternberg, D.3
  • 32
    • 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.PART 6 , pp. 1091-1099
    • Sternberg, D.1    Maisonobe, T.2    Jurkat-Rott, K.3
  • 33
    • 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 U S A 2000; 97:9549-9554.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 9549-9554
    • Jurkat-Rott, K.1    Mitrovic, N.2    Hang, C.3
  • 34
    • 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
  • 35
    • 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
  • 36
    • 33947530651 scopus 로고    scopus 로고
    • Management and treatment of Andersen-Tawil syndrome (ATS)
    • Sansone V, Tawil R. Management and treatment of Andersen-Tawil syndrome (ATS). Neurotherapeutics 2007; 4:233-237.
    • (2007) Neurotherapeutics , vol.4 , pp. 233-237
    • Sansone, V.1    Tawil, R.2
  • 37
    • 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
  • 38
    • 20344388309 scopus 로고    scopus 로고
    • Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: Characteristic TU- wave patterns predict the KCNJ2 genotype
    • Zhang L, Benson DW, Tristani-Firouzi M, et al. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic TU- wave patterns predict the KCNJ2 genotype. Circulation 2005; 111:2720-2726.
    • (2005) Circulation , vol.111 , pp. 2720-2726
    • Zhang, L.1    Benson, D.W.2    Tristani-Firouzi, M.3
  • 39
    • 34447550271 scopus 로고    scopus 로고
    • Mechanism of U wave and polymorphic ventricular tachycardia in a canine tissue model of Andersen-Tawil syndrome
    • Morita H, Zipes DP, Morita ST, Wu J. Mechanism of U wave and polymorphic ventricular tachycardia in a canine tissue model of Andersen-Tawil syndrome. Cardiovasc Res 2007; 75:510-518.
    • (2007) Cardiovasc Res , vol.75 , pp. 510-518
    • Morita, H.1    Zipes, D.P.2    Morita, S.T.3    Wu, J.4
  • 41
    • 0032823307 scopus 로고    scopus 로고
    • Voltage-gated ion channels and hereditary disease
    • Lehmann-Horn F, Jurkat-Rott K. Voltage-gated ion channels and hereditary disease. Physiol Rev 1999; 79:1317-1372.
    • (1999) Physiol Rev , vol.79 , pp. 1317-1372
    • Lehmann-Horn, F.1    Jurkat-Rott, K.2
  • 43
    • 23744481030 scopus 로고    scopus 로고
    • Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders
    • Treves S, Anderson AA, Ducreux S, et al. Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. Neuromuscul Disord 2005; 15:577-587.
    • (2005) Neuromuscul Disord , vol.15 , pp. 577-587
    • Treves, S.1    Anderson, A.A.2    Ducreux, S.3
  • 44
    • 33744955800 scopus 로고    scopus 로고
    • Sarcoplasmic reticulum: The dynamic calcium governor of muscle
    • Rossi AE, Dirksen RT. Sarcoplasmic reticulum: the dynamic calcium governor of muscle. Muscle Nerve 2006; 33:715-731.
    • (2006) Muscle Nerve , vol.33 , pp. 715-731
    • Rossi, A.E.1    Dirksen, R.T.2
  • 45
    • 0035843079 scopus 로고    scopus 로고
    • Projection structure of a ClCtype chloride channel at 6.5 A resolution
    • Mindell JA, Maduke M, Miller C, Grigorieff N. Projection structure of a ClCtype chloride channel at 6.5 A resolution. Nature 2001; 409:219-223.
    • (2001) Nature , vol.409 , pp. 219-223
    • Mindell, J.A.1    Maduke, M.2    Miller, C.3    Grigorieff, N.4
  • 46
    • 0032921415 scopus 로고    scopus 로고
    • The muscle chloride channel ClC-1 has a double-barrelled appearance that is differentially affected in dominant and recessive myotonia
    • Saviane C, Conti F, Pusch M. The muscle chloride channel ClC-1 has a double-barrelled appearance that is differentially affected in dominant and recessive myotonia. J Gen Physiol 1999; 113:457-468.
    • (1999) J Gen Physiol , vol.113 , pp. 457-468
    • Saviane, C.1    Conti, F.2    Pusch, M.3
  • 47
    • 0017750206 scopus 로고
    • On the inhibition of muscle membrane chloride conductance by aromatic carboxylic acids
    • Palade PT, Barchi RL. On the inhibition of muscle membrane chloride conductance by aromatic carboxylic acids. J Gen Physiol 1977; 69:879-896.
    • (1977) J Gen Physiol , vol.69 , pp. 879-896
    • Palade, P.T.1    Barchi, R.L.2
  • 48
    • 0031926906 scopus 로고    scopus 로고
    • The dominant chloride channel mutant G200R causing fluctuating myotonia: Clinical findings, electrophysiology, and channel pathology
    • Wagner S, Deymeer F, Kurz LL, et al. The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology. Muscle Nerve 1998; 21:1122-1128.
    • (1998) Muscle Nerve , vol.21 , pp. 1122-1128
    • Wagner, S.1    Deymeer, F.2    Kurz, L.L.3
  • 49
    • 0027997634 scopus 로고
    • Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita
    • George AL Jr, Sloan-Brown K, Fenichel GM, et al. Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet 1994; 3:2071-2072.
    • (1994) Hum Mol Genet , vol.3 , pp. 2071-2072
    • George Jr., A.L.1    Sloan-Brown, K.2    Fenichel, G.M.3
  • 50
    • 0028287533 scopus 로고
    • Proof of a nonfunctional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion
    • Heine R, George AL Jr, Pika U, et al. Proof of a nonfunctional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion. Hum Mol Genet 1994; 3:1123-1128.
    • (1994) Hum Mol Genet , vol.3 , pp. 1123-1128
    • Heine, R.1    George Jr., A.L.2    Pika, U.3
  • 51
    • 0036193436 scopus 로고    scopus 로고
    • Myotonia caused by mutations in the muscle chloride channel gene CLCN1
    • Pusch M. Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Hum Mutat 2002; 19:423-434.
    • (2002) Hum Mutat , vol.19 , pp. 423-434
    • Pusch, M.1
  • 52
    • 36849035575 scopus 로고    scopus 로고
    • Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy
    • Wheeler TM, Lueck JD, Swanson MS, et al. Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest 2007; 117:3952-3957.
    • (2007) J Clin Invest , vol.117 , pp. 3952-3957
    • Wheeler, T.M.1    Lueck, J.D.2    Swanson, M.S.3
  • 53
    • 34347333381 scopus 로고    scopus 로고
    • Molecular targeting of CFTR as a therapeutic approach to cystic fibrosis
    • Amaral MD, Kunzelmann K. Molecular targeting of CFTR as a therapeutic approach to cystic fibrosis. Trends Pharmacol Sci 2007; 28:334-341.
    • (2007) Trends Pharmacol Sci , vol.28 , pp. 334-341
    • Amaral, M.D.1    Kunzelmann, K.2
  • 54
    • 58149230098 scopus 로고    scopus 로고
    • A novel dominant mutation of the Nav1.4 alpha-subunit domain i leading to sodium channel myotonia
    • Petitprez S, Tiab L, Chen L, et al. A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia. Neurology 2008; 71:1669-1675.
    • (2008) Neurology , vol.71 , pp. 1669-1675
    • Petitprez, S.1    Tiab, L.2    Chen, L.3
  • 55
    • 41649107155 scopus 로고    scopus 로고
    • Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia
    • Webb J, Cannon SC. Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia. Neurology 2008; 70:755-761.
    • (2008) Neurology , vol.70 , pp. 755-761
    • Webb, J.1    Cannon, S.C.2
  • 56
    • 65249176705 scopus 로고    scopus 로고
    • Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia
    • Carle T, Fournier E, Sternberg D, et al. Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia J Physiol 2009; 587 (Pt 8):1705-1714.
    • (2009) J Physiol , vol.587 , Issue.PART 8 , pp. 1705-1714
    • Carle, T.1    Fournier, E.2    Sternberg, D.3
  • 57
    • 0036211354 scopus 로고    scopus 로고
    • Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II
    • Kuzmenkin A, Muncan V, Jurkat-Rott K, et al. Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II. Brain 2002; 125 (Pt 4):835-843.
    • (2002) Brain , vol.125 , Issue.PART 4 , pp. 835-843
    • Kuzmenkin, A.1    Muncan, V.2    Jurkat-Rott, K.3
  • 59
    • 33746867474 scopus 로고    scopus 로고
    • Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis
    • Carle T, Lhuillier L, Luce S, et al. Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis. Biochem Biophys Res Commun 2006; 348:653-661.
    • (2006) Biochem Biophys Res Commun , vol.348 , pp. 653-661
    • Carle, T.1    Lhuillier, L.2    Luce, S.3
  • 60
    • 33847344389 scopus 로고    scopus 로고
    • Gating pore current in an inherited ion channelopathy
    • Sokolov S, Scheuer T, Catterall WA. Gating pore current in an inherited ion channelopathy. Nature 2007; 446:76-78.
    • (2007) Nature , vol.446 , pp. 76-78
    • Sokolov, S.1    Scheuer, T.2    Catterall, W.A.3
  • 61
    • 34347211819 scopus 로고    scopus 로고
    • A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore
    • Struyk AF, Cannon SC. A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore. J Gen Physiol 2007; 130:11-20.
    • (2007) J Gen Physiol , vol.130 , pp. 11-20
    • Struyk, A.F.1    Cannon, S.C.2
  • 62
    • 53549107219 scopus 로고    scopus 로고
    • Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: Saturation of ion flux and implications for disease pathogenesis
    • Struyk AF, Markin VS, Francis D, Cannon SC. Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis. J Gen Physiol 2008; 132:447-464.
    • (2008) J Gen Physiol , vol.132 , pp. 447-464
    • Struyk, A.F.1    Markin, V.S.2    Francis, D.3    Cannon, S.C.4
  • 63
    • 58149395036 scopus 로고    scopus 로고
    • Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis
    • Sokolov S, Scheuer T, Catterall WA. Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis. Proc Natl Acad Sci U S A 2008; 105:19980-19985.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 19980-19985
    • Sokolov, S.1    Scheuer, T.2    Catterall, W.A.3
  • 64
    • 54049103591 scopus 로고    scopus 로고
    • Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene
    • Chabrier S, Monnier N, Lunardi J. Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene. J Med Genet 2008; 45:686-688.
    • (2008) J Med Genet , vol.45 , pp. 686-688
    • Chabrier, S.1    Monnier, N.2    Lunardi, J.3
  • 65
    • 62649111494 scopus 로고    scopus 로고
    • K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks
    • Jurkat-Rott K, Weber MA, Fauler M, et al. K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks. Proc Natl Acad Sci U S A 2009; 106:4036-4041.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 4036-4041
    • Jurkat-Rott, K.1    Weber, M.A.2    Fauler, M.3
  • 66
    • 0035908917 scopus 로고    scopus 로고
    • Channelopathies: Kir2.1 mutations jeopardize many cell functions
    • Jongsma HJ, Wilders R. Channelopathies: Kir2.1 mutations jeopardize many cell functions. Curr Biol 2001; 11:R747-R750.
    • (2001) Curr Biol , vol.11
    • Jongsma, H.J.1    Wilders, R.2
  • 67
    • 53049087281 scopus 로고    scopus 로고
    • Exaggerated Mg2+ inhibition of Kir2.1 as a consequence of reduced PIP2 sensitivity in Andersen syndrome
    • Ballester LY, Vanoye CG, George AL Jr. Exaggerated Mg2+ inhibition of Kir2.1 as a consequence of reduced PIP2 sensitivity in Andersen syndrome. Channels (Austin) 2007; 1:209-217.
    • (2007) Channels (Austin) , vol.1 , pp. 209-217
    • Ballester, L.Y.1    Vanoye, C.G.2    George Jr., A.L.3
  • 68
    • 34447509448 scopus 로고    scopus 로고
    • T75M-KCNJ2 mutation causing Andersen- Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity
    • Tani Y, Miura D, Kurokawa J, et al. T75M-KCNJ2 mutation causing Andersen- Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity. J Mol Cell Cardiol 2007; 43:187-196.
    • (2007) J Mol Cell Cardiol , vol.43 , pp. 187-196
    • Tani, Y.1    Miura, D.2    Kurokawa, J.3
  • 69
    • 34547770295 scopus 로고    scopus 로고
    • Impaired interaction between the slide helix and the C-terminus of Kir2.1: A novel mechanism of Andersen syndrome
    • Decher N, Renigunta V, Zuzarte M, et al. Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome. Cardiovasc Res 2007; 75:748-757.
    • (2007) Cardiovasc Res , vol.75 , pp. 748-757
    • Decher, N.1    Renigunta, V.2    Zuzarte, M.3
  • 70
    • 66149138405 scopus 로고    scopus 로고
    • Redefining the clinical phenotypes of nondystrophic myotonic syndromes
    • Trip J, Drost G, Ginjaar I, et al. Redefining the clinical phenotypes of nondystrophic myotonic syndromes. J Neurol Neurosurg Psychiatry 2009; 80:647-652.
    • (2009) J Neurol Neurosurg Psychiatry , vol.80 , pp. 647-652
    • Trip, J.1    Drost, G.2    Ginjaar, I.3
  • 71
    • 9144223871 scopus 로고    scopus 로고
    • Electromyography guides toward subgroups of mutations in muscle channelopathies
    • Fournier E, Arzel M, Sternberg D, et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 2004; 56:650-661.
    • (2004) Ann Neurol , vol.56 , pp. 650-661
    • Fournier, E.1    Arzel, M.2    Sternberg, D.3
  • 72
    • 33749827245 scopus 로고    scopus 로고
    • Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness
    • Weber MA, Nielles-Vallespin S, Essig M, et al. Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness. Neurology 2006; 67:1151-1158.
    • (2006) Neurology , vol.67 , pp. 1151-1158
    • Weber, M.A.1    Nielles-Vallespin, S.2    Essig, M.3
  • 73
    • 33746224289 scopus 로고    scopus 로고
    • Evaluation of patients with paramyotonia at 23Na MR imaging during cold-induced weakness
    • Weber MA, Nielles-Vallespin S, Huttner HB, et al. Evaluation of patients with paramyotonia at 23Na MR imaging during cold-induced weakness. Radiology 2006; 240:489-500.
    • (2006) Radiology , vol.240 , pp. 489-500
    • Weber, M.A.1    Nielles-Vallespin, S.2    Huttner, H.B.3
  • 74
    • 36749015585 scopus 로고    scopus 로고
    • Chloride channel myotonia: Exon 8 hot-spot for dominant-negative interactions
    • Fialho D, Schorge S, Pucovska U, et al. Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. Brain 2007; 130 (Pt 12):3265-3274.
    • (2007) Brain , vol.130 , Issue.PART 12 , pp. 3265-3274
    • Fialho, D.1    Schorge, S.2    Pucovska, U.3
  • 75
    • 53249105761 scopus 로고    scopus 로고
    • Treatment of neuromuscular channelopathies: Current concepts and future prospects
    • Cleland JC, Griggs RC. Treatment of neuromuscular channelopathies: current concepts and future prospects. Neurotherapeutics 2008; 5:607-612.
    • (2008) Neurotherapeutics , vol.5 , pp. 607-612
    • Cleland, J.C.1    Griggs, R.C.2
  • 77
    • 30644474721 scopus 로고    scopus 로고
    • Carbonic anhydrase inhibitors ameliorate the symptoms of hypokalaemic periodic paralysis in rats by opening the muscular Ca2+-activated-K+ channels
    • Tricarico D, Mele A, Conte Camerino D. Carbonic anhydrase inhibitors ameliorate the symptoms of hypokalaemic periodic paralysis in rats by opening the muscular Ca2+-activated-K+ channels. Neuromuscul Disord 2006; 16:39-45.
    • (2006) Neuromuscul Disord , vol.16 , pp. 39-45
    • Tricarico, D.1    Mele, A.2    Conte Camerino, D.3
  • 79
    • 42949089844 scopus 로고    scopus 로고
    • Acetazolamide prevents vacuolar myopathy in skeletal muscle of K(+) -depleted rats
    • Tricarico D, Lovaglio S, Mele A, et al. Acetazolamide prevents vacuolar myopathy in skeletal muscle of K(+) -depleted rats. Br J Pharmacol 2008; 154:183-190.
    • (2008) Br J Pharmacol , vol.154 , pp. 183-190
    • Tricarico, D.1    Lovaglio, S.2    Mele, A.3
  • 81
    • 45049086401 scopus 로고    scopus 로고
    • Oral verapamil effectively suppressed complex ventricular arrhythmias and unmasked U waves in a patient with Andersen-Tawil syndrome
    • Erdogan O, Aksoy A, Turgut N, et al. Oral verapamil effectively suppressed complex ventricular arrhythmias and unmasked U waves in a patient with Andersen-Tawil syndrome. J Electrocardiol 2008; 41:325-328.
    • (2008) J Electrocardiol , vol.41 , pp. 325-328
    • Erdogan, O.1    Aksoy, A.2    Turgut, N.3
  • 82
    • 39649092715 scopus 로고    scopus 로고
    • Calcium channel blocker and adenosine triphosphate terminate bidirectional ventricular tachycardia in a patient with Andersen-Tawil syndrome
    • Sumitomo N, Shimizu W, Taniguchi K, Hiraoka M. Calcium channel blocker and adenosine triphosphate terminate bidirectional ventricular tachycardia in a patient with Andersen-Tawil syndrome. Heart Rhythm 2008; 5:498-499.
    • (2008) Heart Rhythm , vol.5 , pp. 498-499
    • Sumitomo, N.1    Shimizu, W.2    Taniguchi, K.3    Hiraoka, M.4
  • 83
    • 48749083988 scopus 로고    scopus 로고
    • Reduction of complex ventricular ectopy and improvement in exercise capacity with flecainide therapy in Andersen-Tawil syndrome
    • Fox DJ, Klein GJ, Hahn A, et al. Reduction of complex ventricular ectopy and improvement in exercise capacity with flecainide therapy in Andersen-Tawil syndrome. Europace 2008; 10:1006-1008.
    • (2008) Europace , vol.10 , pp. 1006-1008
    • Fox, D.J.1    Klein, G.J.2    Hahn, A.3
  • 84
    • 37549049378 scopus 로고    scopus 로고
    • Flecainide suppresses bidirectional ventricular tachycardia and reverses tachycardia-induced cardiomyopathy in Andersen-Tawil syndrome
    • Pellizzon OA, Kalaizich L, Ptacek LJ, et al. Flecainide suppresses bidirectional ventricular tachycardia and reverses tachycardia-induced cardiomyopathy in Andersen-Tawil syndrome. J Cardiovasc Electrophysiol 2008; 19:95-97.
    • (2008) J Cardiovasc Electrophysiol , vol.19 , pp. 95-97
    • Pellizzon, O.A.1    Kalaizich, L.2    Ptacek, L.J.3
  • 85
    • 34247275151 scopus 로고    scopus 로고
    • Flecainide for recurrent malignant ventricular arrhythmias in two siblings with Andersen-Tawil syndrome
    • Bokenkamp R, Wilde AA, Schalij MJ, Blom NA. Flecainide for recurrent malignant ventricular arrhythmias in two siblings with Andersen-Tawil syndrome. Heart Rhythm 2007; 4:508-511.
    • (2007) Heart Rhythm , vol.4 , pp. 508-511
    • Bokenkamp, R.1    Wilde, A.A.2    Schalij, M.J.3    Blom, N.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.