PubMed 7987325

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav1.1

Title: A calcium channel mutation causing hypokalemic periodic paralysis.

Authors: K Jurkat-Rott, F Lehmann-Horn, A Elbaz, R Heine, R G Gregg, K Hogan, P A Powers, P Lapie, J E Vale-Santos, J Weissenbach

Journal, date & volume: Hum. Mol. Genet., 1994 Aug , 3, 1415-9

PubMed link:

The only calcium channel mutation reported to date is a deletion in the gene for the DHP-receptor alpha 1-subunit resulting in neonatal death in muscular dysgenesis mice (1). In humans, this gene maps to chromosome 1q31-32. An autosomal dominant muscle disease, hypokalemic periodic paralysis (HypoPP), has been mapped to the same region (2). Sequencing of cDNA of two patients revealed a G-to-A base exchange of nucleotide 1583 predicting a substitution of histidine for arginine528. This affects the outermost positive charge in the transmembrane segment IIS4 that is considered to participate in voltage sensing. By restriction fragment analysis, the mutation was detected in the affected members of 9 out of 25 HypoPP families. The results indicate that the DHP-receptor alpha 1-subunit mutation causes HypoPP. An altered excitation-contraction coupling may explain the occurrence of muscle weakness.