Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

Article Details

Citation

Ptacek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF

Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

Cell. 1991 Nov 29;67(5):1021-7.

PubMed ID
1659948 [ View in PubMed
]
Abstract

DNA from seven unrelated patients with hyperkalemic periodic paralysis (HYPP) was examined for mutations in the adult skeletal muscle sodium channel gene (SCN4A) known to be genetically linked to the disorder. Single-strand conformation polymorphism analysis revealed aberrant bands that were unique to three of these seven patients. All three had prominent fixed muscle weakness, while the remaining four did not. Sequencing the aberrant bands demonstrated the same C to T transition in all three unrelated patients, predicting substitution of a highly conserved threonine residue with a methionine in a membrane-spanning segment of this sodium channel protein. The observation of a distinct mutation that cosegregates with HYPP in two families and appears as a de novo mutation in a third establishes SCN4A as the HYPP gene. Furthermore, this mutation is associated with a form of HYPP in which fixed muscle weakness is seen.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Sodium channel protein type 4 subunit alphaP35499Details