Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.
نویسندگان
چکیده
Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder characterized by episodic attacks of muscle weakness associated with a decrease in blood potassium levels. Recently, mutations in the gene coding for the skeletal muscle voltage-gated sodium channel alpha subunit (SCN4A) have been reported. We detected the R672H mutation in one HypoPP Turkish family.
منابع مشابه
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
Mutations in CACNA1S (calcium channel, voltage‑dependent, L type, alpha 1S subunit) and SCN4A (sodium channel, voltage‑gated, type IV, alpha subunit) are associated with hypokalemic periodic paralysis (HPP). The aim of the current study was to investigate CACNA1S and SCN4A mutations in patients with HPP. Mutations in CACNA1S and SCN4A were detected in three familial hypokalemic periodic paralys...
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ورودعنوان ژورنال:
- The Turkish journal of pediatrics
دوره 52 4 شماره
صفحات -
تاریخ انتشار 2010