The non-dystrophic myotonias: Molecular pathogenesis, diagnosis and treatment

Brain

Volumn 133, Issue 1, 2010, Pages 9-22

  Matthews, E ^a   Fialho, D ^a   Tan, S V ^a   Venance, S L ^b   Cannon, S C ^c   Sternberg, D ^d   Fontaine, B ^d   Amato, A A ^e   Barohn, R J ^f   Griggs, R C ^g   Hanna, M G ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b LONDON HEALTH SCIENCES CENTRE   (Canada)

^c UNIVERSITY OF TEXAS AT DALLAS   (United States)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

EMG; Genetics; Ion channels; Neuromuscular

Indexed keywords

ACETAZOLAMIDE; ANTIARRHYTHMIC AGENT; CARBONATE DEHYDRATASE INHIBITOR; CHLORIDE CHANNEL; FLECAINIDE; GLUCOCORTICOID; MEXILETINE; PHENYTOIN; PREDNISONE; PROCAINAMIDE; QUININE; SODIUM CHANNEL; SODIUM CHANNEL BLOCKING AGENT; VOLTAGE GATED CHANNEL FORMING PROTEIN; VOLTAGE GATED SODIUM CHANNEL;

CHANNELOPATHY; CLINICAL ASSESSMENT; CLINICAL FEATURE; CORRELATION ANALYSIS; ELECTROPHYSIOLOGY; GENE MUTATION; GENE TARGETING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MEMBRANE DEPOLARIZATION; MEMBRANE POTENTIAL; MOLECULAR GENETICS; MORBIDITY; MUSCLE ATROPHY; MYOPATHY; MYOTONIA; MYOTONIC DYSTROPHY; NEUROPHYSIOLOGY; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; REVIEW; RIGHTING REFLEX; SODIUM CURRENT; TEMPERATURE DEPENDENCE; THOMSEN DISEASE;

ANIMALS; HUMANS; MYOTONIA; MYOTONIC DISORDERS;

EID: 74249111904     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awp294     Document Type: Review

References (117)

1. Aichele R, Paik H, Heller AH. Efficacy of phenytoin, procainamide, and tocainide in murine genetic myotonia. Exp Neurol 1985; 87: 377-381
2. Alfonsi E, Merlo IM, Tonini M, Ravaglia S, Brugnoni R, Gozzini A, et al. Efficacy of propafenone in paramyotonia congenita. Neurology 2007; 68: 1080-1081
3. Aoike F, Takahashi MP, Sakoda S. Class Ic antiarrhythmics block human skeletal muscle Na channel during myotonia-like stimulation. Eur J Pharmacol 2006; 532: 24-31.
4. Barchi RL. Myotonia. An evaluation of the chloride hypothesis. Arch Neurol 1975; 32: 175-180
5. Baumann P, Myllyla VV, Leisti J. Myotonia congenita in northern Finland: an epidemiological and genetic study. J Med Genet 1998; 35: 293-296
6. Beck CL, Fahlke C, George AL Jr. Molecular basis for decreased muscle chloride conductance in the myotonic goat. Proc Natl Acad Sci USA 1996; 93: 11248-11252
7. Becker PE. Myotonia congenita and syndromes associated with myotonia. Stuttgart: Georg Thieme Verlag; 1977.
8. 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
9. Bradley WG, Taylor R, Rice DR, Hausmanowa-Petruzewicz I, Adelman LS, Jenkison M, et al. Progressive myopathy in hyperkalemic periodic paralysis. Arch Neurol 1990; 47: 1013-1017
10. Bryant SH. Cable properties of external intercostal muscle fibres from myotonic and nonmyotonic goats. J Physiol 1969; 204: 539-550
11. 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
12. Buruma OJ, Bots GT. Myopathy in familial hypokalaemic periodic paralysis independent of paralytic attacks. Acta Neurol Scand 1978; 57: 171-179
13. Cannon SC. Spectrum of sodium channel disturbances in the nondys-trophic myotonias and periodic paralyses. Kidney Int 2000; 57: 772-779
14. Cannon SC. Pathomechanisms in channelopathies of skeletal muscle and brain. Annu Rev Neurosci 2006; 29: 387-415.
15. Catalano A, Carocci A, Corbo F, Franchini C, Muraglia M, Scilimati A, et al. Constrained analogues of tocainide as potent skeletal muscle sodium channel blockers towards the development of antimyotonic agents. Eur J Med Chem 2008; 43: 2535-2540
16. Ceccarelli M, Rossi B, Siciliano G, Calevro L, Tarantino E. Clinical and electrophysiological reports in a case of early onset myotonia conge-nita (Thomsen's disease) successfully treated with mexiletine. Acta Paediatr 1992; 81: 453-455
17. Charlet B, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 2002; 10: 45-53.
18. Chen MF, Niggeweg R, Iaizzo PA, Lehmann-Horn F, Jockusch H. Chloride conductance in mouse muscle is subject to post-transcriptional compensation of the functional Cl-channel 1 gene dosage. J Physiol 1997; 504 (Pt 1): 75-81.
19. Cleland JC, Griggs RC. Treatment of neuromuscular channelopathies: current concepts and future prospects. Neurotherapeutics 2008; 5: 607-612
20. Colding-Jorgensen E, Duno M, Vissing J. Autosomal dominant monosymptomatic myotonia permanens. Neurology 2006; 67: 153-155
21. 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
22. Duno M, Colding-Jorgensen E, Grunnet M, Jespersen T, Vissing J, Schwartz M. Difference in allelic expression of the CLCN-1 gene and the possible influence on the myotonia congenita phenotype. Eur J Hum Genet 2004; 12: 738-743
23. Emery AE. Population frequencies of inherited neuromuscular diseases\-a world survey. Neuromuscul Disord 1991; 1: 19-29.
24. Eulenburg A. Ueber eine familiare, durch 6 generationen verfolgbare Form congenitaler Paramyotonie. Neurologisches Centralblatt 1886; 5: 265-272
25. Ferriby D, Stojkovic T, Sternberg D, Hurtevent JF, Hurtevent JP, Vermersch P. A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification. Neuromuscul Disord 2006; 16: 321-324
26. Fialho D, Schorge S, Pucovska U, Davies NP, Labrum R, Haworth A, et al. Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. Brain 2007; 130: 3265-3274
27. Finnigan DF, Hanna WJ, Poma R, Bendall AJ. A novel mutation of the CLCN-1 gene associated with myotonia hereditaria in an Australian cattle dog. J Vet Intern Med 2007; 21: 458-463
28. Fontaine B, Khurana TS, Hoffman EP, Bruns GA, Haines JL, Trofatter JA, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science 1990; 250: 1000-1002
29. Fournier E, Arzel M, Sternberg D, Vicart S, Laforet P, Eymard B, et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 2004; 56: 650-661
30. Fournier E, Viala K, Gervais H, Sternberg D, rzel-Hezode M, Laforet P, et al. Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006; 60: 356-365
31. Gay S, Dupuis D, Faivre L, Masurel-Paulet A, Labenne M, Colombani M, et al. Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. Am J Med Genet A 2008; 146: 380-383
32. George AL Jr, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat Genet 1993; 3: 305-310
33. George AL Jr, Sloan-Brown K, Fenichel GM, Mitchell GA, Spiegel R, Pascuzzi RM. Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet 1994; 3: 2071-2072
34. Griggs RC, Moxley RT III, Riggs JE, Engel WK. Effects of acetazolamide on myotonia. Ann Neurol 1978; 3: 531-537
35. Hammaren E, Kjellby-Wendt G, Lindberg C. Quantification of mobility impairment and self-assessment of stiffness in patients with myotonia congenita by the physiotherapist. Neuromuscul Disord 2005; 15: 610-617
36. Hayward LJ, Kim JS, Lee MY, Zhou H, Kim JW, Misra K, et al. Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness. J Clin Invest 2008; 118: 1437-1449
37. Hayward LJ, Sandoval GM, Cannon SC. Defective slow inactivation of sodium channels contributes to familial periodic paralysis. Neurology 1999; 52: 1447-1453
38. Heine R, Pika U, Lehmann-Horn F. A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum Mol Genet 1993; 2: 1349-1353
39. Hirn C, Shapovalov G, Petermann O, Roulet E, Ruegg UT. Nav1.4 deregulation in dystrophic skeletal muscle leads to Na+ overload and enhanced cell death. J Gen Physiol 2008; 132: 199-208.
40. Hogrel JY. Quantitative myotonia assessment using force relaxation curve modelling. Physiol Meas 2009; 30: 719-727
41. Horlings CG, Drost G, Bloem BR, Trip J, Pieterse AJ, van Engelen BG, et al. Trunk sway analysis to quantify the warm-up phenomenon in myotonia congenita patients. J Neurol Neurosurg Psychiatry 2009; 80: 207-212
42. Jackson CE, Barohn RJ, Ptacek LJ. Paramyotonia congenita: abnormal short exercise test, and improvement after mexiletine therapy. Muscle Nerve 1994; 17: 763-768
43. Kelly P, Yang WS, Costigan D, Farrell MA, Murphy S, Hardiman O. Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit\-a large kindred with a novel phenotype. Neuromuscul Disord 1997; 7: 105-111
44. Koch myotonia congenita, Baumbach K, George AL, Ricker K. Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile). Neuroreport 1995; 6: 2001-2004.
45. Koch myotonia congenita, Ricker K, Otto M, Grimm T, Bender K, Zoll B, et al. Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17. Hum Genet 1991a; 88: 71-74
46. Koch myotonia congenita, Ricker K, Otto M, Grimm T, Hoffman EP, Rudel R, et al. Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17. J Med Genet 1991b; 28: 583-586
47. Koch myotonia congenita, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992; 257: 797-800.
48. Kubisch C, Schmidt-Rose T, Fontaine B, Bretag AH, Jentsch TJ. ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. Hum Mol Genet 1998; 7: 1753-1760 (Pubitemid 28464150)
49. Kwiecinski H, Lehmann-Horn F, Rudel R. Drug-induced myotonia in human intercostal muscle. Muscle Nerve 1988; 11: 576-581
50. Lehmann-Horn F, Kuther G, Ricker K, Grafe P, Ballanyi K, Rudel R. Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH. Muscle Nerve 1987a; 10: 363-374
51. Lehmann-Horn F, Rudel R, Dengler R, Lorkovic H, Haass A, Ricker K. Membrane defects in paramyotonia congenita with and without myo-tonia in a warm environment. Muscle Nerve 1981; 4: 396-406. (Pubitemid 11004275)
52. Lehmann-Horn F, Rudel R, Ricker K. Membrane defects in paramyotonia congenita (Eulenburg). Muscle Nerve 1987b; 10: 633-641
53. Lennox G, Purves A, Marsden D. Myotonia fluctuans. Arch Neurol 1992; 49: 1010-1011
54. Lerche H, Heine R, Pika U, George AL Jr, Mitrovic N, Browatzki M, et al. Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol 1993; 470: 13-22.
55. Leyburn P, Walton JN. The treatment of myotonia: a controlled clinical trial. Brain 1959; 82: 81-91.
56. 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
57. Lipicky RJ, Bryant SH. Sodium, potassium, and chloride fluxes in intercostal muscle from normal goats and goats with hereditary myotonia. J Gen Physiol 1966; 50: 89-111.
58. Lipicky RJ, Bryant SH, Salmon JH. Cable parameters, sodium, potassium, chloride, and water content, and potassium efflux in isolated external intercostal muscle of normal volunteers and patients with myotonia congenita. J Clin Invest 1971; 50: 2091-2103
59. Logigian EL, Blood CL, Dilek N, Martens WB, Moxley RT, Wiegner AW, et al. Quantitative analysis of the "warm-up" phenomenon in myo-tonic dystrophy type 1. Muscle Nerve 2005; 32: 35-42.
60. Matthews E, Guet A, Mayer M, Vicart S, Pemble S, Sternberg D, et al. Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype. Neurology 2008a; 71: 1740-1742
61. Matthews E, Tan SV, Fialho D, Sweeney MG, Sud R, Haworth A, et al. What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. Neurology 2008b; 70: 50-53
62. McClatchey AI, Trofatter J, Kenna-Yasek D, Raskind W, Bird T, Pericak-Vance M, et al. Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. Am J Hum Genet 1992a; 50: 896-901.
63. McClatchey AI, Van den BP, Pericak-Vance MA, Raskind W, Verellen C, Kenna-Yasek D, et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 1992b; 68: 769-774
64. McManis PG, Lambert EH, Daube JR. The exercise test in periodic paralysis. Muscle Nerve 1986; 9: 704-710
65. Meyer-Kleine C, Steinmeyer K, Ricker K, Jentsch TJ, Koch myotonia congenita. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN-1) leading to myotonia. Am J Hum Genet 1995; 57: 1325-1334
66. Michel P, Sternberg D, Jeannet PY, Dunand M, Thonney F, Kress W, et al. Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders. Muscle Nerve 2007; 36: 643-650
67. Miller TM, as da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, et al. Correlating phenotype and genotype in the periodic paralyses. Neurology 2004; 63: 1647-1655
68. Moxley RT III, Logigian EL, Martens WB, Annis CL, Pandya S, Moxley RT, et al. Computerized hand grip myometry reliably measures myotonia and muscle strength in myotonic dystrophy (myotonic dystrophy type I). Muscle Nerve 2007; 36: 320-328
69. Nagamitsu S, Matsuura T, Khajavi M, Armstrong R, Gooch C, Harati Y, et al. A "dystrophic" variant of autosomal recessive myotonia conge-nita caused by novel mutations in the CLCN-1 gene. Neurology 2000; 55: 1697-1703
70. Papponen H, Nissinen M, Kaisto T, Myllyla VV, Myllyla R, Metsikko K. F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1. Muscle Nerve 2008; 37: 317-325
71. Papponen H, Toppinen T, Baumann P, Myllyla V, Leisti J, Kuivaniemi H, et al. Founder mutations and the high prevalence of myotonia con-genita in northern Finland. Neurology 1999; 53: 297-302.
72. Plassart E, Eymard B, Maurs L, Hauw JJ, Lyon-Caen O, Fardeau M, et al. Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene. J Neurol Sci 1996; 142: 126-133
73. Plassart E, Reboul J, Rime CS, Recan D, Millasseau P, Eymard B, et al. Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia con-genita: phenotype to genotype correlations and demonstration of the predominance of two mutations. Eur J Hum Genet 1994; 2: 110-124
74. Ptacek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991a; 67: 1021-1027
75. Ptacek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, et al. Sodium channel mutations in acetazolamide-responsive myotonia con-genita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology 1994; 44: 1500-1503
76. Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. Am J Hum Genet 1991b; 49: 851-854
77. 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 1991c; 49: 378-382
78. Pusch M, Steinmeyer K, Koch myotonia congenita, Jentsch TJ. Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. Neuron 1995; 15: 1455-1463
79. Reed SM, Hegreberg GA, Bayly WM, Brown CM, Paradis MR, Clemmons RM. Progressive myotonia in foals resembling human dys-trophia myotonica. Muscle Nerve 1988; 11: 291-296
80. Rhodes TH, Vite CH, Giger U, Patterson DF, Fahlke C, George AL Jr. A missense mutation in canine C1C-1 causes recessive myotonia con-genita in the dog. FEBS Lett 1999; 456: 54-58
81. Ricker K, Haass A, Hertel G, Mertens HG. Transient muscular weakness in severe recessive myotonia congenita. J Neurol 1978; 218: 253-262
82. Ricker K, Lehmann-Horn F, Moxley RT III. Myotonia fluctuans. Arch Neurol 1990; 47: 268-272
83. Ricker K, Moxley RT III, Heine R, Lehmann-Horn F. Myotonia fluctuans. A third type of muscle sodium channel disease. Arch Neurol 1994; 51: 1095-1102
84. Rogers CS, Vanoye CG, Sullenger BA, George AL Jr. Functional repair of a mutant chloride channel using a trans-splicing ribozyme. J Clin Invest 2002; 110: 1783-1789
85. + channel alpha-subunit in hyperkalaemic periodic paralysis. Nature 1991; 354: 387-389
86. Rosenfeld J, Sloan-Brown K, George AL Jr. A novel muscle sodium channel mutation causes painful congenital myotonia. Ann Neurol 1997; 42: 811-814
87. Rudel R, Dengler R, Ricker K, Haass A, Emser W. Improved therapy of myotonia with the lidocaine derivative tocainide. J Neurol 1980; 222: 275-278
88. Rudolph JA, Spier SJ, Byrns G, Rojas CV, Bernoco D, Hoffman EP. Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding. Nat Genet 1992; 2: 144-147
89. Steinmeyer K, Klocke R, Ortland C, Gronemeier M, Jockusch H, Grunder S, et al. Inactivation of muscle chloride channel by transposon insertion in myotonic mice. Nature 1991; 354: 304-308
90. Streib EW. SSYT. Transient Paresis in Myotonic Syndromes: a simplified electrophysiologic approach. Muscle & Nerve 1982; 5: 719-723
91. Streib EW. Paramyotonia congenita: successful treatment with tocainide. Clinical and electrophysiologic findings in seven patients. Muscle Nerve 1987; 10: 155-162
92. Sun C, Tranebjaerg L, Torbergsen T, Holmgren G, Van GM. Spectrum of CLCN-1 mutations in patients with myotonia congenita in Northern Scandinavia. Eur J Hum Genet 2001; 9: 903-909
93. Suominen T, Schoser B, Raheem O, Auvinen S, Walter M, Krahe R, et al. High frequency of co-segregating CLCN-1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. J Neurol 2008; 255: 1731-1736
94. Thomsen J. Tonische Krampfe in willkurlich beweglichen Muskeln in Folge von ererbter psychischer Disposition. Arch Psychiatr Nervenkrankheiten 1876; 6: 702-718
95. Torres C, Moxley RT, Griggs RC. Quantitative testing of handgrip strength, myotonia, and fatigue in myotonic dystrophy. J Neurol Sci 1983; 60: 157-168
96. Trip J, de VJ, Drost G, Ginjaar HB, van Engelen BG, Faber CG. Health status in non-dystrophic myotonias: close relation with pain and fatigue. J Neurol 2009a; 256: 939-947
97. Trip J, Drost G, Ginjaar HB, Nieman FH, van der Kooi AJ, de VM, et al. Redefining the clinical phenotypes of non-dystrophic myo-tonic syndromes. J Neurol Neurosurg Psychiatry 2009b; 80: 647-652
98. Trip J, Drost G, van Engelen BG, Faber CG. Drug treatment for myoto-nia. Cochrane Database Syst Rev 2006; 1: CD004762.
99. Trip J, Drost G, Verbove DJ, van der Kooi AJ, Kuks JB, Notermans NC, et al. In tandem analysis of CLCN-1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. Eur J Hum Genet 2008; 16: 921-929
100. Trip J, Pillen S, Faber CG, van Engelen BG, Zwarts MJ, Drost G. Muscle ultrasound measurements and functional muscle parameters in non-dystrophic myotonias suggest structural muscle changes. Neuromuscul Disord 2009c; 19: 462-467
101. Trivedi J, Statland J, Cannon S, Bundy B, Wang Y, Barohn R, et al. Nondystrophic myotonic disorders: assessment of myotonia and warm-up phenomenon in various subtypes [abstract]. Neurology 2008; 70 (Suppl 1): A110.
102. Trudell RG, Kaiser KK, Griggs RC. Acetazolamide-responsive myotonia congenita. Neurology 1987; 37: 488-491
103. Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, et al. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain 2006; 129: 8-17.
104. Verkman AS, Galietta LJ. Chloride channels as drug targets. Nat Rev Drug Discov 2009; 8: 153-171
105. Vicart S, Sternberg D, Fontaine B, Meola G. Human skeletal muscle sodium channelopathies. Neurol Sci 2005; 26: 194-202.
106. Vicart S, Sternberg D, Fournier E, Ochsner F, Laforet P, Kuntzer T, et al. New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. Neurology 2004; 63: 2120-2127
107. Volosin K, Greenberg RM, Greenspon AJ. Tocainide associated agranu-locytosis. Am Heart J 1985; 109: 1392-1393
108. Walsh R, Wang Y, Statland J, Bundy B, Barohn RJ, CINCH study group. The nondystrophic myotonias: genotype-phenotype correlation and longitudinal study. Clinical phenotype characterization [abstract]. Neurology 2007; 68 (Suppl 1): A297.
109. Wang GK, Calderon J, Wang SY. State-and use-dependent block of muscle Nav1.4 and neuronal Nav1.7 voltage-gated Na+ channel iso-forms by ranolazine. Mol Pharmacol 2008a; 73: 940-948
110. Wang GK, Mitchell J, Wang SY. Block of persistent late Na+ currents by antidepressant sertraline and paroxetine. J Membr Biol 2008b; 222: 79-90.
111. Wang Y, Statland J, Walsh RJ, Brundy B, Barohn RJ, Herbelin L, et al. Clinical phenotype characterization of nondystrophic myotonias [abstract]. J Clin Neuromusc Dis 2008c; 9: 367.
112. Weber MA, Nielles-Vallespin S, Huttner HB, Wohrle JC, Jurkat-Rott K, Lehmann-Horn F, et al. Evaluation of patients with paramyotonia at 23Na MR imaging during cold-induced weakness. Radiology 2006; 240: 489-500.
113. Wheeler TM, Lueck JD, Swanson MS, Dirksen RT, Thornton CA. Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest 2007; 117: 3952-3957
114. Wu FF, Takahashi MP, Pegoraro E, Angelini C, Colleselli P, Cannon SC, et al. A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation. Neurology 2001; 56: 878-884
115. Yang N, Ji S, Zhou M, Ptacek LJ, Barchi RL, Horn R, et al. Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proc Natl Acad Sci USA 1994; 91: 12785-12789
116. Zhang J, Bendahhou S, Sanguinetti myotonia congenita, Ptacek LJ. Functional consequences of chloride channel gene (CLCN-1) mutations causing myotonia congenita. Neurology 2000; 54: 937-942
117. Zhang J, George AL Jr, Griggs RC, Fouad GT, Roberts J, Kwiecinski H, et al. Mutations in the human skeletal muscle chloride channel gene (CLCN-1) associated with dominant and recessive myotonia congenita. Neurology 1996; 47: 993-8.