Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5
@article{Bendahhou2002ImpairmentOS, title={Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5}, author={S. Bendahhou and T. Cummins and R. Kula and Y-H Fu and L. Pt{\'a}cek}, journal={Neurology}, year={2002}, volume={58}, pages={1266-1272} }
Background Mutations in the human skeletal muscle sodium channels are associated with hyperKPP, hypoKPP, paramyotonia congenita, and potassium-aggravated myotonia. This article describes the clinical manifestations of a patient with hyperKPP carrying a mutation (L689I) occurring in the linker DIIS4-S5 and its functional expression in a mammalian system. Objective To correlate the clinical manifestations of hyperkalemic periodic paralysis (hyperKPP) with the functional expression of a sodium… CONTINUE READING
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References
SHOWING 1-10 OF 32 REFERENCES
Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia.
- Biology, Medicine
- Biophysical journal
- 1999
- 60
Activation and Inactivation of the Voltage-Gated Sodium Channel: Role of Segment S5 Revealed by a Novel Hyperkalaemic Periodic Paralysis Mutation
- Biology, Medicine
- The Journal of Neuroscience
- 1999
- 83
- PDF
A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation.
- Biology, Medicine
- The Journal of clinical investigation
- 2000
- 43
- PDF
Hyperkalemic periodic paralysis M1592V mutation modifies activation in human skeletal muscle Na+ channel.
- Biology, Medicine
- American journal of physiology. Cell physiology
- 1999
- 31
- PDF
Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis
- Biology, Medicine
- Neuron
- 1993
- 145
Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.
- Biology, Medicine
- Proceedings of the National Academy of Sciences of the United States of America
- 1994
- 204
- PDF
Defective slow inactivation of sodium channels contributes to familial periodic paralysis
- Medicine
- Neurology
- 1999
- 133
Sodium channel mutations in acetazolamide‐responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis
- Medicine
- Neurology
- 1994
- 144
Defective fast inactivation recovery and deactivation account for sodium channel myotonia in the I1160V mutant.
- Biology, Medicine
- Biophysical journal
- 1997
- 42