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Article

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

Cell - 17 Jun 1994

Ptácek L J, Tawil R, Griggs R C, Engel A G, Layzer R B, Kwieciński H, McManis P G, Santiago L, Moore M, Fouad G

Abstract excerpt

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...

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Identifiers

PMID: 8004673
DOI: 10.1016/0092-8674(94)90135-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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