Arginine mutations in S4 segments account for 90% of hypokalemic periodic paralysis cases, supporting the gating pore cation leak hypothesis.
Hypothesis-generating for gating pore-targeted therapies in HypoPP; does not yet inform clinical practice.
All mutations affected arginine residues, consistent with the gating pore cation leak hypothesis of hypokalemic periodic paralysis. Arginine mutations in S4 segments underlie 90% of hypokalemic periodic paralysis cases.
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Matthews et al. (2008) studied this question.
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