Article
Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.
Neurology - 9 Oct 2001
Davies N P, Eunson L H, Samuel M, Hanna M G
Abstract excerpt
Eleven of 36 families with hypokalemic periodic paralysis (hypoPP) harbored mutations in the skeletal muscle calcium channel gene (CACNA1S). The authors screened the skeletal muscle sodium channel gene (SCN4A) in the remainder. One family harbored a new heterozygous point mutation C2014A in exon 12 (R672S) of SCN4A. The authors identified the genetic defect underlying hypoPP in 33% of individuals tested. The...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.