{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T02:29:14Z","timestamp":1776824954866,"version":"3.51.2"},"reference-count":33,"publisher":"American Physiological Society","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American Journal of Physiology-Cell Physiology"],"published-print":{"date-parts":[[1999,1,1]]},"abstract":"<jats:p> Mutations in the human skeletal muscle Na<jats:sup>+<\/jats:sup> channel underlie the autosomal dominant disease hyperkalemic periodic paralysis (HPP). Muscle fibers from affected individuals exhibit sustained Na<jats:sup>+<\/jats:sup> currents thought to depolarize the sarcolemma and thus inactivate normal Na<jats:sup>+<\/jats:sup> channels. We expressed human wild-type or M<jats:sub>1592<\/jats:sub>V mutant \u03b1-subunits with the \u03b2<jats:sub>1<\/jats:sub>-subunit in Xenopus laevis oocytes and recorded Na<jats:sup>+<\/jats:sup> currents using two-electrode and cut-open oocyte voltage-clamp techniques. The most prominent functional difference between M<jats:sub>1592<\/jats:sub>V mutant and wild-type channels is a 5- to 10-mV shift in the hyperpolarized direction of the steady-state activation curve. The shift in the activation curve for the mutant results in a larger overlap with the inactivation curve than that observed for wild-type channels. Accordingly, the current through M<jats:sub>1592<\/jats:sub>V channels displays a larger noninactivating component than does that through wild-type channels at membrane potentials near \u221240 mV. The functional properties of the M<jats:sub>1592<\/jats:sub>V mutant resemble those of the previously characterized HPP T<jats:sub>704<\/jats:sub>M mutant. Both clinically similar phenotypes arise from mutations located at a distance from the putative voltage sensor of the channel. <\/jats:p>","DOI":"10.1152\/ajpcell.1999.276.1.c259","type":"journal-article","created":{"date-parts":[[2017,12,24]],"date-time":"2017-12-24T17:34:57Z","timestamp":1514136897000},"page":"C259-C266","source":"Crossref","is-referenced-by-count":29,"title":["Hyperkalemic periodic paralysis M<sub>1592<\/sub>V mutation  modifies activation in human skeletal muscle Na<sup>+<\/sup> channel"],"prefix":"10.1152","volume":"276","author":[{"given":"Cecilia V.","family":"Rojas","sequence":"first","affiliation":[{"name":"Instituto de Nutrici\u00f3n y Tecnolog\u0131\u0301a de los Alimentos, Universidad de Chile, Casilla 138-11, Santiago; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Neely","sequence":"additional","affiliation":[{"name":"Department of Physiology, Texas Tech University Health Sciences Center, Lubbock, Texas 79430"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Velasco-Loyden","sequence":"additional","affiliation":[{"name":"Instituto de Nutrici\u00f3n y Tecnolog\u0131\u0301a de los Alimentos, Universidad de Chile, Casilla 138-11, Santiago; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ver\u00f3nica","family":"Palma","sequence":"additional","affiliation":[{"name":"Instituto de Ciencias Biom\u00e9dicas, Facultad de Medicina, Universidad de Chile, Casilla 70005-7, Santiago, Chile; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel","family":"Kukuljan","sequence":"additional","affiliation":[{"name":"Instituto de Ciencias Biom\u00e9dicas, Facultad de Medicina, Universidad de Chile, Casilla 70005-7, Santiago, Chile; and"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"24","reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ph.57.030195.002035"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ne.19.030196.001041"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(93)90321-H"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(94)90271-2"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(96)79829-6"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(96)79219-6"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(93)90168-Q"},{"key":"B8","first-page":"479","volume":"36","author":"Goldin A. 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