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However, PPP is charactered by remarkable clinical and genetic heterogeneity, and the diagnosis of suspected patients is based on the characteristic clinical presentation then confirmed by genetic testing. At present, there are only limited cohort studies on PPP in the Chinese population.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>We included 37 patients with a clinical diagnosis of PPP. Eleven (29.7%) patients were tested using a specific gene panel and 26 (70.3%) by the whole-exome sequencing (WES). Twenty-two cases had a genetic variant identified, representing a diagnostic rate of 59.5% (22\/37). All the identified mutations were either in the <jats:italic>SCN4A<\/jats:italic> or the <jats:italic>CACNA1S<\/jats:italic> gene. The overall detection rate was comparable between the panel (54.5%: 6\/11) and WES (61.5%: 16\/26). The remaining patients unresolved through panel sequencing were further analyzed by WES, without the detection of any mutation. The novel atypical splicing variant c.2020-5G\u2009&gt;\u2009A affects the normal splicing of the <jats:italic>SCN4A<\/jats:italic> mRNA, which was confirmed by minigene splicing assay. Among 21 patients with HypoPP, 15 patients were classified as HypoPP-2 with <jats:italic>SCN4A<\/jats:italic> variants, and 6 HypoPP-1 patients had <jats:italic>CACNA1S<\/jats:italic> variants.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Our results suggest that <jats:italic>SCN4A<\/jats:italic> alleles are the main cause in our cohort, with the remainder caused by <jats:italic>CACNA1S<\/jats:italic> alleles, which are the predominant cause in Europe and the United States. Additionally, this study identified 3 novel <jats:italic>SCN4A<\/jats:italic> and 2 novel <jats:italic>CACNA1S<\/jats:italic> variants, broadening the mutation spectrum of genes associated with PPP.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-024-03170-5","type":"journal-article","created":{"date-parts":[[2024,4,12]],"date-time":"2024-04-12T19:01:38Z","timestamp":1712948498000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients"],"prefix":"10.1186","volume":"19","author":[{"given":"Xuechao","family":"Zhao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haofeng","family":"Ning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaofeng","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yinghui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guifang","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huanan","family":"Ren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5685-8055","authenticated-orcid":false,"given":"Xiangdong","family":"Kong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,4,12]]},"reference":[{"issue":"5","key":"3170_CR1","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1097\/WCO.0000000000000127","volume":"27","author":"K Suetterlin","year":"2014","unstructured":"Suetterlin K, Mannikko R, Hanna MG. 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The present study was approved by the ethics committee (KS-2018-KY-36) of the First Afliated Hospital of Zhengzhou University.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The patients or their legal guardians provided written informed consent for the publication of this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"160"}}