{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T18:22:04Z","timestamp":1784139724063,"version":"3.55.0"},"reference-count":30,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T00:00:00Z","timestamp":1635465600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>Hypokalemic periodic paralysis (HypoPP) is a rare autosomal dominant disorder characterized by episodic flaccid paralysis with concomitant hypokalemia. More than half of patients were associated with mutations in <jats:italic>CACNA1S<\/jats:italic> that encodes the alpha-1-subunit of the skeletal muscle L-type voltage-dependent calcium channel. Mutations in <jats:italic>CACNA1S<\/jats:italic> may alter the structure of CACNA1S and affect the functions of calcium channels, which damages Ca<jats:sup>2+<\/jats:sup>-mediated excitation-contraction coupling. In this research, we identified and described a Chinese HypoPP patient with a novel frameshift mutation in <jats:italic>CACNA1S<\/jats:italic> [NM_000069.2: c.1364delA (p.Asn455fs)] by targeted sequencing. This study would expand the spectrum of <jats:italic>CACNA1S<\/jats:italic> mutations, further our understanding of HypoPP, and provided a new perspective for selecting effective treatments.<\/jats:p>","DOI":"10.3389\/fgene.2021.743184","type":"journal-article","created":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T07:14:09Z","timestamp":1635491649000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family"],"prefix":"10.3389","volume":"12","author":[{"given":"Jie-Yuan","family":"Jin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing-Bing","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Dong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Sheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang-Liang","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Bing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,10,29]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"6935","DOI":"10.1073\/pnas.111001898","article-title":"Intramembrane Charge Movements and Excitation- Contraction Coupling Expressed by Two-Domain Fragments of the Ca2+ Channel","volume":"98","author":"Ahern","year":"","journal-title":"Proc. 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