Muscle channelopathies

Seminars in Neurology

Volumn 28, Issue 2, 2008, Pages 260-269

  Saperstein, David S ^a,b  

^a UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^b Phoenix Neurological Associates   (United States)

Author keywords

Channelopathies; Myotonia; Myotonia congenita; Paramyotonia; Periodic paralysis

Indexed keywords

ANDERSEN SYNDROME; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; ELECTRODIAGNOSIS; HUMAN; HYPERKALEMIA; HYPOKALEMIA; LABORATORY DIAGNOSIS; MOLECULAR GENETICS; MUSCLE CHANNELOPATHY; MYOTONIA; PATHOGENESIS; PERIODIC PARALYSIS; PRIORITY JOURNAL; REVIEW; THOMSEN DISEASE;

CHANNELOPATHIES; DIAGNOSIS, DIFFERENTIAL; ELECTRODIAGNOSIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ION CHANNELS; MUSCLE, SKELETAL; MUTATION; MYOTONIC DISORDERS; PARALYSIS, HYPERKALEMIC PERIODIC;

EID: 41149159885     PISSN: 02718235     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1062262     Document Type: Review

References (28)

1. Streib EW. AAEE minimonograph #27: differential diagnosis of myotonic syndromes. Muscle Nerve 1987;10:603-615
2. Heatwole CR, Moxley RT III. The nondystrophic myotonias. Neurotherapeutics 2007;4:238-251
3. 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
4. George AL, Crackower MA, Abdalla JA, Hudson JA, Ebers GC. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenital). Nat Genet 1993;3:305-310
5. Lorenz C, Meyer-Kleine C, Steinmeyer K, Koch MC, Jentsch TJ. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Hum Mo1 Genet 1994;3:941-946
6. Wu FF, Ryan A, Devaney J, et al. Novel CLCN1 mutations with unique clinical and electrophysiological consequences. Brain 2002;125:2392-2407
7. Ptacek LJ, George AL, Barchi RL, et al. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 1992;8:891-897
8. Ptacek LJ, Gouw L, Kwiencinski H, et al. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol 1993;33:300-307
9. Streib EW. Paramyotonia congenita: successful treatment with tocainide: clinical and electrophysiologic findings in seven patients. Muscle Nerve 1987;10:155-162
10. Fournier E, Arzel M, Sternberg D, et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 2004;56:650-661
11. Fournier E, Viala K, Gervais H, et al. Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006;60:356-365
12. McManis PG, Lambert EH, Daube JR. The exercise test in periodic paralysis. Muscle Nerve 1986;9:704-710
13. Kuntzer T, Flocard F, Vial C, et al. Exercise test in muscle channelopathies and other muscle disorders. Muscle Nerve 2000;23:1089-1094
14. Jackson CE, Barohn RJ, Ptacek LJ. Paramyotonia congenita: abnormal short exercise test, and improvement after mexiletine therapy. Muscle Nerve 1994;17:763-768
15. Russell SH, Hirsch NP. Anaesthesia and myotonia. Br J Anaesth 1994;72:210-216
16. Lennox G, Purves A, Marsden D. Myotonia fluctuans. Arch Neurol 1992;49:1010-1011
17. Rudel R, Lehmann-Horn F. Workshop report. Paramyotonia, potassium-aggravated myotonias, and periodic paralyses. Neuromuscul Disord 1997;7:127-132
18. Trudell RG, Kaiser KK, Griggs RC. Acetazolamide responsive myotonia congenita. Neurology 1987;37:488-491
19. Griggs RC. Periodic paralysis and myotonia. In: Griggs RC, Mendell JR, Miller RG, eds. Evaluation and Treatment of Myopathies. Philadelphia: FA Davis; 1995:318-354
20. Tawil R, Ptacek LJ, Pavlakis SG, et al. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol 1994;35:326-330
21. Miller TM, Dias da Silva MR, Miller HA, et al. Correlating phenotype and genotype in the periodic paralyses. Neurology 2004;63:1647-1655
22. Sansone V, Griggs RC, Meola G, et al. Andersen's syndrome: a distinct periodic paralysis. Ann Neurol 1997;42:305-312
23. Ptacek LJ, George ALJr, Griggs RC, et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991;67:1021-1027
24. Sternberg D, Maisonobe T, Jurkat-Rott K, et al. Hypokalemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain 2001;124:1091-1099
25. 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
26. Katz JS, Wolfe GI, Iannaccone S, Bryan WW, Barohn RJ. The exercise test in Andersen syndrome. Arch Neurol 1999;56:352-356
27. 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
28. Chun TU, Epstein MR, Dick M II, et al. Polymorphic ventricular tachycardia and KCNJ2 mutations. Heart Rhythm 2004;1:235-241