@article{bbc850fcd4874c08b9472e60cfa468f5,
title = "Identification of a mutation in the gene causing hyperkalemic periodic paralysis",
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.",
author = "Pt{\'a}{\v c}ek, {Louis J.} and George, {Alfred L.} and Griggs, {Robert C.} and Rabi Tawil and Kallen, {Roland G.} and Barchi, {Robert L.} and Margaret Robertson and Leppert, {Mark F.}",
note = "Funding Information: a Lucille P. Markey Scholar, and this work was supported in part by a grant from the Lucille P. Markey Charitable Trust. Funding Information: The authors are grateful to Edward Meenen for preparation of oligonucleotides, to Sharon Austin, Leslie Jerominski, Keith Johnson, Diane Storvick, and Minalee Woodward for technical assistance, and to Dr. Sherman Coleman for providing muscle tissue from patient 10263. The DNA diagnostic laboratory at the University of Utah performed paternity testing in kindred 1767. Ruth Foltz provided editorial assistance. The authors appreciate helpful discussions with Kathy Alderson, Barry Ganetzky, Mark Keating, James Trimmer, and Ray White. This investigation was supported by the Howard Hughes Medical Institute; by the Utah Technology Access Center (NIH grant no. 8 ROl HG00367 from the Center for Human Genome Research); by NIH grants 1 Kll HDOO940-01 (to L. J. P.){\textquoteleft} NS-18013 (to R. L. B.), and AR-01862 (to A. L. G.); by Public Health Service research grants no. Mdl-RR00064 (University of Utah) and MOI-RR0004 (University of Rochester) from the National Center for Research Resources; and by grants from the Muscular Dystrophy Association (to L. J. P., Ft. L. B., and R. G. K.) and the PEW Charitable Trust (to R. L. B.). A. L. G. is",
year = "1991",
month = nov,
day = "29",
doi = "10.1016/0092-8674(91)90374-8",
language = "English (US)",
volume = "67",
pages = "1021--1027",
journal = "Cell",
issn = "0092-8674",
publisher = "Elsevier B.V.",
number = "5",
}