Journal of Neurological Research and Therapy
Open Access
Skeletal Muscle Calcium Channel Mutation R528G: Enhanced Channel Inactivation and Omega-Current at Hyperpolarization Contribute to Hypokalemic Periodic Paralysis.
Jun 2016 DOI 10.14302/issn.2470-5020.jnrt-16-993
Karin Jurkat-RottCorresponding author
Autosomal dominant inherited hypokalemic periodic paralysis (HypoPP) is caused by S4 voltage sensor mutations in skeletal muscle CaV1.1 calcium or NaV1.4 sodium channels. In the present study, a small German family with the known CaV1.1-R528G is described. The phenotype consists of short and infrequ…