Article
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Neurology - 5 May 2009
Matthews E, Labrum R, Sweeney M G, Sud R, Haworth A, Chinnery P F, Meola G, Schorge S, Kullmann D M, Davis M B, Hanna M G
Abstract excerpt
BACKGROUND: Several missense mutations of CACNA1S and SCN4A genes occur in hypokalemic periodic paralysis. These mutations affect arginine residues in the S4 voltage sensors of the channel. Approximately 20% of cases remain genetically undefined. METHODS: We undertook direct automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in 83 cases of hypokalemic periodic paralysis. RESULTS: We identified...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.