@article{802b6933806944fcab345de4c02f8f10,
title = "Dihydropyridine receptor mutations cause hypokalemic periodic paralysis",
abstract = "Hypokalemic periodic paralysis (hypoKPP) is an autosomal dominant skeletal muscle disorder manifested by episodic weakness associated with low serum potassium. Genetic linkage analysis has localized the hypoKPP gene to chromosome 1q31-q32 near a dihydropyridine (DHP) receptor gene. This receptor functions as a voltage-gated calcium channel and is also critical for excitation-contraction coupling in a voltage-sensitive and calcium-independent manner. We have characterized patient-specific DHP receptor mutations in 11 probands of 33 independent hypoKPP kindreds that occur at one of two adjacent nucleotides within the same codon and predict substitution of a highly conserved arginine in the S4 segment of domain 4 with either histidine or glycine. In one kindred, the mutation arose de novo. Taken together, these data establish this DHP receptor as the hypoKPP gene. We are unaware of any other human diseases presently known to result from DHP receptor mutations.",
author = "Pt{\'a}{\v c}ek, {Louis J.} and Rabi Tawil and Griggs, {Robert C.} and Engel, {Andrew G.} and Layzer, {Robert B.} and Hubert Kwieci{\'n}ski and McManis, {Philip G.} and Lorna Santiago and Mary Moore and Gameil Fouad and Paige Bradley and Leppert, {Mark F.}",
note = "Funding Information: The authors are grateful to Edward Meenen for preparation of oligonucleotides and to Jack Petajan for providing control muscle samples. The authors appreciate helpful discussions with Kurt Beam, Shannon Odelberg, Mark Keating, and Hunter Heath. The DNA diagnostic laboratory at the University of Utah performed paternity testing in kindred 1958. This investigation was supported by the Howard Hughes Medical Institute; by the Utah Technology Access Center (National Institutes of Health grant 8 ROl HGO0367 from the Center for Human Genome Research); by National Institutes of Health grant 1 Kll HD00940-01 (to L. P.); by Public Health Service research grants MOI-RR00064 (University of Utah) and MOl-RR0004 (University of Rochester) from the National Center for Research Resources; and by a grant from the Muscular Dystrophy Association (to L. P.).",
year = "1994",
month = jun,
day = "17",
doi = "10.1016/0092-8674(94)90135-X",
language = "English (US)",
volume = "77",
pages = "863--868",
journal = "Cell",
issn = "0092-8674",
publisher = "Cell Press",
number = "6",
}