{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:06:21Z","timestamp":1787018781945,"version":"build-2736575974"},"reference-count":35,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"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":[[2022,7]]},"abstract":"<jats:p>Autosomal dominant hypocalcemia type 1 (ADH1) is a rare inherited disorder characterized by hypocalcemia with low parathyroid hormone (PTH) levels and high urinary calcium. Its clinical presentation varies from mild asymptomatic to severe hypocalcemia. It is caused by gain-of-function mutations in the calcium-sensing receptor gene ( CASR) which affect PTH secretion from the parathyroid gland and calcium resorption in the kidney. Here, we describe a case who presented with symptoms of recurrent seizure caused by hypocalcemia with a novel CASR variant. We comprehensively analyzed the phenotypic features of this presentation and reviewed the current literature to better understand clinical manifestations and the genetic spectrum.<\/jats:p>","DOI":"10.1177\/03000605221110489","type":"journal-article","created":{"date-parts":[[2022,7,12]],"date-time":"2022-07-12T00:20:47Z","timestamp":1657585247000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":11,"title":["Autosomal dominant hypocalcemia with a novel\n                    <i>CASR<\/i>\n                    mutation: a case study and literature review"],"prefix":"10.1177","volume":"50","author":[{"given":"Yingying","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Neurology, Suzhou Hospital of Anhui Medical University, Suzhou, China"},{"name":"Department of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, 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