IndraLab

Statements


CACNA1S activates HypoPP. 3 / 3
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"Adults with a mutation in CACNA1S known to cause HypoPP were included."

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"This study identifies a novel Arg528Gly mutation in the CACNA1S gene that causes HypoPP in a Chinese family, expands the spectrum of mutations causing HypoPP, and demonstrates a gender difference in the penetrance of the disease."

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"HypoPP is caused by mutations in CACNA1S, which encodes the alpha-subunit of the calcium channel Ca v 1.1, and SCN4A, which encodes the alpha-subunit of sodium channel Na v 1.4."