Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients


Hyperkalemic periodic paralysis (hyperKPP) is an autosomal dominant skeletal muscle channelopathy. It is caused by mutations in the SCN4A gene, which encodes the α subunit of the skeletal muscle voltage-gated sodium channel Nav1.4 [1,2]. Among SCN4A mutations associated with hyperKPP, T704M has been reported as a common causative mutation [3]. HyperKPP is characterized by recurrent transient attacks of generalized or focal muscle weakness. Some patients experience a chronic progressive myopathy that can cause permanent weakness, which is particularly common in old age [4].


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