{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T22:06:39Z","timestamp":1785708399811,"version":"3.56.0"},"reference-count":26,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"4983","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[1990,11,16]]},"abstract":"<jats:p>\n            Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disorder characterized by episodes of muscle weakness due to depolarization of the muscle cell membrane associated with elevated serum potassium. Electrophysiological studies have implicated the adult muscle sodium channel. Here, portions of the adult muscle sodium channel \u03b1-subunit gene were cloned and mapped near the human growth hormone locus (\n            <jats:italic>GH1<\/jats:italic>\n            ) on chromosome 17. In a large pedigree displaying HYPP with myotonia, these two loci showed tight linkage to the genetic defect with no recombinants detected. Thus, it is likely that the sodium channel \u03b1-subunit gene contains the HYPP mutation.\n          <\/jats:p>","DOI":"10.1126\/science.2173143","type":"journal-article","created":{"date-parts":[[2006,10,5]],"date-time":"2006-10-05T22:10:14Z","timestamp":1160086214000},"page":"1000-1002","source":"Crossref","is-referenced-by-count":244,"title":["Hyperkalemic Periodic Paralysis and the Adult Muscle Sodium Channel \u03b1-Subunit Gene"],"prefix":"10.1126","volume":"250","author":[{"given":"Bertrand","family":"Fontaine","sequence":"first","affiliation":[{"name":"Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown, MA 02129 and Harvard Medical School, Boston, MA 02115."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tejvir S.","family":"Khurana","sequence":"additional","affiliation":[{"name":"Program in Neuroscience, Harvard Medical School, and Division of Medical Genetics, The Children's Hospital, Boston, MA 02115."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric P.","family":"Hoffman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Division of Medical Genetics, The Children's Hospital, and Harvard Medical School, Boston, MA 02115."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail A. P.","family":"Bruns","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Division of Medical Genetics, The Children's Hospital, and Harvard Medical School, Boston, MA 02115."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan L.","family":"Haines","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown, MA 02129 and Harvard Medical School, Boston, MA 02115."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James A.","family":"Trofatter","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown, MA 02129 and Harvard Medical School, Boston, MA 02115."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark P.","family":"Hanson","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown, MA 02129 and Harvard Medical School, Boston, MA 02115."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaimie","family":"Rich","sequence":"additional","affiliation":[{"name":"Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown, MA 02129 and Harvard Medical School, Boston, MA 02115."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"McFarlane","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown, MA 02129 and Harvard Medical School, Boston, MA 02115."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane McKenna","family":"Yasek","sequence":"additional","affiliation":[{"name":"Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown, MA 02129 and Harvard Medical School, Boston, MA 02115."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna","family":"Romano","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown, MA 02129 and Harvard Medical School, Boston, MA 02115."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Gusella","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown, MA 02129 and Harvard Medical School, Boston, MA 02115."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Robert H.","family":"Brown","sequence":"additional","affiliation":[{"name":"Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown, MA 02129 and Harvard Medical School, Boston, MA 02115."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_2_1_1_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(88)90176-6"},{"key":"e_1_2_1_2_1","first-page":"323","volume":"87","year":"1990","unstructured":"AULD, V.J., A NEUTRAL AMINO-ACID CHANGE IN SEGMENT-IIS4 DRAMATICALLY ALTERS THE GATING PROPERTIES OF THE VOLTAGE-DEPENDENT SODIUM-CHANNEL, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 87: 323 (1990).","journal-title":"PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1146\/annurev.ne.11.030188.002323","volume":"11","year":"1988","unstructured":"BARCHI, R.L., PROBING THE MOLECULAR-STRUCTURE OF THE VOLTAGE-DEPENDENT SODIUM-CHANNEL, ANNUAL REVIEW OF NEUROSCIENCE 11: 455 (1988).","journal-title":"ANNUAL REVIEW OF NEUROSCIENCE"},{"key":"e_1_2_1_4_1","unstructured":"Brown R. 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