Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5

  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},
  • 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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