{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,30]],"date-time":"2026-08-30T11:33:45Z","timestamp":1788089625238,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T00:00:00Z","timestamp":1768435200000},"content-version":"vor","delay-in-days":14,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Hypokalemic periodic paralysis (HypoPP) is a rare skeletal muscle channelopathy, most often caused by mutations in\n                      <jats:italic>CACNA1S<\/jats:italic>\n                      or\n                      <jats:italic>SCN4A<\/jats:italic>\n                      . Most pathogenic\n                      <jats:italic>CACNA1S<\/jats:italic>\n                      mutations affect arginine residues in S4 voltage\u2010sensor domains, but other variants remain poorly understood.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>\n                      I describe a 30\u2010year\u2010old Caucasian woman with recurrent paralytic episodes and hypokalemia (2.1\u20132.3\u2009mmol\/L), triggered by stress and carbohydrate\u2010rich meals. Genetic testing revealed heterozygosity for\n                      <jats:italic>CACNA1S<\/jats:italic>\n                      c.3727C\u2009\u2009&gt;\u2009\u2009G (p.Leu1243Val), a variant of uncertain significance not previously associated with pathogenicity. Her phenotype was consistent with HypoPP. Treatment with spironolactone and acetazolamide reduced episode frequency, although the latter caused intolerable side effects, particularly tachypnea; she was later approved for dichlorphenamide. During one hospitalization, she also developed transient hypophosphatemia and hypokalemia, consistent with her HypoPP picture. Kidney function and imaging were normal. Family history revealed electrolyte disturbances in her grandfather.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This case highlights a possible genotype\u2013phenotype link involving\n                      <jats:italic>CACNA1S<\/jats:italic>\n                      p.Leu1243Val. Continued reporting of such cases is essential for variant reclassification and for improving recognition of metabolic shifts during HypoPP attacks.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/crig\/8824228","type":"journal-article","created":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T05:18:42Z","timestamp":1768540722000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Hypokalemic Periodic Paralysis Associated With a Rare\n                    <i>CACNA1S<\/i>\n                    Variant (p.Leu1243Val): Expanding the Mutational Spectrum"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-6014-8575","authenticated-orcid":false,"given":"Mark Abi","family":"Nader","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,15]]},"reference":[{"key":"e_1_2_13_1_2","volume-title":"Genereviews\u00ae [Internet]","author":"Weber F.","year":"1993"},{"key":"e_1_2_13_2_2","volume-title":"StatPearls [Internet]. Treasure Island (FL)","author":"Phuyal P.","year":"2025"},{"key":"e_1_2_13_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-018-0120-4"},{"key":"e_1_2_13_4_2","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.202112946"},{"key":"e_1_2_13_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-021-00673-2"},{"key":"e_1_2_13_6_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2023.1267426"},{"key":"e_1_2_13_7_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.743184"},{"key":"e_1_2_13_8_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-023-04326-1"},{"key":"e_1_2_13_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002416"},{"key":"e_1_2_13_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26009"},{"key":"e_1_2_13_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31823a0cb6"},{"key":"e_1_2_13_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmjresp-2020-000557"},{"key":"e_1_2_13_13_2","volume-title":"StatPearls [Internet]. Treasure Island (FL)","author":"Kaur J.","year":"2024"},{"key":"e_1_2_13_14_2","article-title":"Hypophosphatemia: Mechanisms","author":"Medscape","year":"2024","journal-title":"Medscape"},{"key":"e_1_2_13_15_2","doi-asserted-by":"publisher","DOI":"10.3390\/nu14081605"},{"key":"e_1_2_13_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt300"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/8824228","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crig\/8824228","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/8824228","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T05:18:43Z","timestamp":1768540723000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crig\/8824228"}},"subtitle":[],"editor":[{"given":"Balraj","family":"Mittal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crig\/8824228"],"URL":"https:\/\/doi.org\/10.1155\/crig\/8824228","archive":["Portico"],"relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-09-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"8824228"}}