Article
Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis.
Neurology - 14 Oct 2003
Sugiura Y, Makita N, Li L, Noble P J, Kimura J, Kumagai Y, Soeda T, Yamamoto T
Abstract excerpt
BACKGROUND: The authors reported a mutation, P1158S, of the human skeletal muscle sodium channel gene (SCN4A) in a family with cold-induced hypokalemic periodic paralysis (hypoKPP) and myotonia. OBJECTIVE: To identify mechanisms of temperature dependency in this channelopathy. METHODS: Using the amphotericin B perforated patch clamp method, sodium currents were recorded at 22 and 32 degrees C from the wild-type...
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