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}
}
  • S. Bendahhou, T. Cummins, +2 authors L. Ptácek
  • Published 2002
  • Biology, Medicine
  • Neurology
  • 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
    Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.
    • N. Yang, S. Ji, +4 authors A. George
    • Biology, Medicine
    • Proceedings of the National Academy of Sciences of the United States of America
    • 1994
    • 204
    • PDF
    Impaired slow inactivation in mutant sodium channels.
    • 178