Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I

Journal of Physiology

Volumn 510, Issue 3, 1998, Pages 685-694

  Green, Donnella S ^a   George Jr , Alfred L ^b   Cannon, Stephen C ^a,c  

^a HARVARD MEDICAL SCHOOL   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; SODIUM CHANNEL; ISOLEUCINE; PHENYLALANINE; SERINE; VALINE;

ALPHA CHAIN; ARTICLE; CHANNEL GATING; CONTROLLED STUDY; DEPOLARIZATION; DNA TRANSFECTION; HUMAN; HUMAN CELL; HYPERPOLARIZATION; MISSENSE MUTATION; MYOTONIA; PRIORITY JOURNAL; SKELETAL MUSCLE; SODIUM CURRENT; ACTION POTENTIAL; DISEASE ASSOCIATION; ELECTRICAL POTENTIAL PARAMETERS; EMBRYO; FAST INACTIVATION; GENETIC ASSOCIATION; INACTIVATION TIME CONSTANT; PROTEIN EXPRESSION; SODIUM CHANNEL ACTIVATION; SODIUM CHANNELOPATHY; STEADY STATE FAST INACTIVATION; WILD TYPE;

EID: 0032144024     PISSN: 00223751     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1469-7793.1998.685bj.x     Document Type: Article

References (25)

1. ADRIAN, R. H. & BRYANT, S. H. (1974). On the repetitive discharge in myotonic muscle fibres. Journal of Physiology 235, 103-131.
2. ALDRICH, R. W., COREY, D. P. & STEVENS, C. F. (1983). A reinterpretation of mammalian sodium channel gating based on single channel recording. Nature 306, 436-441.
3. CANNON, S. C. (1997). From mutation to myotonia in sodium channel disorders. Neuromuscular Disorders, 7, 241-249.
4. CANNON, S. C., BROWN, R. H. JR & COREY, D. P. (1991). A sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivation. Neuron 6, 619-626.
5. CANNON, S. C, BROWN, R. H. JR & COREY, D. P. (1993). Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels. Biophysical Journal 65, 270-288.
6. CANNON, S. C. & STRITTMATTER, S. M. (1993). Functional expression of sodium channel mutations identified in families with periodic paralysis. Neuron 10, 317-326.
7. CHAHINE, M., GEORGE, A. L. JR, ZHOU, M., JI, S., SUN, W, BARCHI, R. L. & HORN, R. (1994). Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation. Neuron 12, 281-294.
8. CUMMINS, T. R. & SIGWORTH, F. J. (1996). Impaired slow inactivation in mutant sodium channels. Biophysical Journal 71, 227-236.
9. + channel mutation causing hyperkalemic periodic paralysis. Neuron 10, 667-678.
10. GEORGE, A. L. JR, KOMISAROF, J., KALLEN, R. G. & BARCHI, R. L. (1992). Primary structure of the adult human skeletal muscle voltage-dependent sodium channel. Annals of Neurology 31, 131-137.
11. GREEN, D. S., HAYWARD, L. J., GEORGE, A. L. & CANNON, S. C. (1997). A proposed mutation, Val781Ile, associated with hyperkalemic periodic paralysis and cardiac dysrhythmia is a benign polymorphism. Annals of Neurology 42, 253-256.
12. HAYWARD, L. J., BROWN, R. H. JR & CANNON, S. C. (1996). Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker. Journal of General Physiology 107, 559-576.
13. HAYWARD, L. J., BROWN, R. H. JR & CANNON, S. C. (1997). Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis. Biophysical Journal 72, 1204-1219.
14. KOCH, M. G, BAUMBACH, K., GEORGE, A. L. & RICKER, K. (1995). Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile). NeuroReport 6, 2001-2004.
15. MCCLATCHEY, A. I., CANNON, S. C., SLAUGENHAUPT, S. A. & GUSELLA, J. F. (1993). The cloning and expression of a sodium channel β1-subunit cDNA from human brain. Human Molecular Genetics 2, 745-749.
16. MCCLATCHEY, A. L, MCKENNA-YASEK, D., CROS, D., WORTHEN, H. G., KUNCL, R. W., DESILVA, S. M., CORNBLATH, D. R., GUSELLA, J. F. & BROWN, R. H. JR (1992). Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nature Genetics 2, 148-152.
17. + channel by the V1589M mutation. Journal of Physiology 478, 395-402.
18. MITROVIC, N., GEORGE, A. L. JR, LERCHE, H., WAGNER, S., FAHLKE, C. & LEHMANN-HORN, F. (1995). Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. Journal of Physiology 487, 107-114.
19. + channel. Neuroscience Letters 214, 9-12.
20. + channel fast and slow inactivation in paramyotonia congenita mutants expressed in Xenopus laevis. Journal of Physiology 499, 589-600.
21. RICKER, K., MOXLEY, R. T. III, HEINE, R. & LEHMANN-HORN, F. (1994). Myotonia fluctuans. A third type of muscle sodium channel disease. Archives of Neurology 51, 1095-1102.
22. SAMBROOK, J., FRITSCH, E. F. & MANIATIS, T. (1989). Molecular Cloning: A Laboratory Manual, 2nd edn. Cold Spring Harbour Laboratory, Cold Spring Harbour, NY, USA.
23. WANG, S. & WANG, G. K. (1997). A mutation in segment I-S6 alters slow inactivation of sodium channels. Biophysical Journal 72, 1633-1640.
24. +-channel inactivation. Proceedings of the National Academy of Sciences of the USA 89, 10910-10914.
25. YANG, N., JI, S., ZHOU, M., PTACEK, L. J., BARCHI, R. L., HORN, R. & GEORGE, A. L. JR (1994). Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proceedings of the National Academy of Sciences of the USA 91, 12785-12789.