{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T12:54:38Z","timestamp":1777726478164,"version":"3.51.4"},"reference-count":33,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Normokalemic periodic paralysis (NormoKPP) of skeletal muscle is an autosomal dominant disorder caused by mutations in the gene encoding voltage-gated sodium channel protein type 4 subunit alpha ( SCN4A), which leads to ion channel dysfunction. Little is known about the relationship between genotype and the clinical symptoms of NormoKPP. The present study aimed to evaluate the genetic variation in a large Chinese family with NormoKPP. The patients in this pedigree did not respond to saline treatment, but calcium gluconate treatment was effective.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed a series of clinical examinations and genetic analyses, using whole-exome and Sanger sequencing, to examine the mutation status of SCN4A in a Chinese family segregating for NormoKPP.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Whole-exome sequencing revealed a c.2111C&gt;T substitution in SCN4A in most of the affected family members. This mutation results in the amino acid substitution p.T704M.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>These results support a causative role of this mutation in SCN4A in NormoKPP, and provide information about the relationship between genotype and atypical clinical symptoms.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0300060520953643","type":"journal-article","created":{"date-parts":[[2020,9,23]],"date-time":"2020-09-23T01:43:43Z","timestamp":1600825423000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of a\n                    <i>SCN4A<\/i>\n                    mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing"],"prefix":"10.1177","volume":"48","author":[{"given":"XinYu","family":"Tan","sequence":"first","affiliation":[{"name":"State Key Laboratory of Microbial Resources, Institute of Microbiology, Chinese Academy of Sciences, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SongNian","family":"Hu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Microbial Resources, Institute of Microbiology, Chinese Academy of Sciences, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zongyu","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Image Center, the First Affiliated Hospital of Bengbu Medical College, Bengbu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hailiang","family":"Mei","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Microbial Resources, Institute of Microbiology, Chinese Academy of Sciences, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology, the First Affiliated Hospital of Bengbu Medical College, Bengbu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Neurology, the First Affiliated Hospital of Bengbu Medical College, Bengbu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Neurology, the First Affiliated Hospital of Bengbu Medical College, Bengbu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiming","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology, the First Affiliated Hospital of Bengbu Medical College, Bengbu, 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