{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T02:30:35Z","timestamp":1777516235740,"version":"3.51.4"},"reference-count":16,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2019,1,1]]},"abstract":"<jats:p>Calcium-sensing receptor gain-of-function mutations are known to cause autosomal dominant hypocalcemia and independently an epilepsy syndrome. We report the unique case of a child with both intractable generalized epilepsy and a chronic abnormality in calcium homeostasis due to a calcium-sensing receptor gene mutation. She is a 16-year-old female who began having staring events around 3 years of age. After her first generalized convulsion at age 5 years, investigations revealed hypocalcemia, hypercalciuria, and central nervous system calcifications. Her electroencephalogram demonstrated generalized epileptiform discharges, a hyperventilation-induced electroclinical seizure, and a photoconvulsive response. She has since been diagnosed with intellectual impairment, behavior disorder, and intractable childhood-onset seizures, the latter of which include eyelid myoclonia with absences. We conclude that calcium-sensing receptor gain-of-function mutations may precipitate an intractable generalized epilepsy syndrome with a comorbid endocrinopathy and that further investigations should be pursued in children with seizures presumed to be provoked by hypocalcemia.<\/jats:p>","DOI":"10.1177\/2329048x19876199","type":"journal-article","created":{"date-parts":[[2019,9,20]],"date-time":"2019-09-20T00:13:52Z","timestamp":1568938432000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Intractable Generalized Epilepsy and Autosomal Dominant Hypocalcemia: A Case Report"],"prefix":"10.1177","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6889-8281","authenticated-orcid":false,"given":"Gian C.","family":"Rossi","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, University of Tennessee Health Science Center, Le Bonheur Children\u2019s Hospital Neuroscience Institute, Memphis, TN, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy L.","family":"Patterson","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, University of Tennessee Health Science Center, Le Bonheur Children\u2019s Hospital Neuroscience Institute, Memphis, TN, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy L.","family":"McGregor","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, University of Tennessee Health Science Center, Le Bonheur Children\u2019s Hospital Neuroscience Institute, Memphis, TN, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James W.","family":"Wheless","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, University of Tennessee Health Science Center, Le Bonheur Children\u2019s Hospital Neuroscience Institute, Memphis, TN, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2019,9,19]]},"reference":[{"key":"bibr1-2329048X19876199","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12550"},{"key":"bibr2-2329048X19876199","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-303"},{"key":"bibr3-2329048X19876199","doi-asserted-by":"publisher","DOI":"10.1007\/BF00539007"},{"key":"bibr4-2329048X19876199","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2013.03.001"},{"key":"bibr5-2329048X19876199","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A"},{"key":"bibr6-2329048X19876199","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21428"},{"key":"bibr7-2329048X19876199","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2005.18.7.689"},{"key":"bibr8-2329048X19876199","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3430"},{"issue":"7","key":"bibr9-2329048X19876199","first-page":"2497","volume":"83","author":"Watanabe T","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"bibr10-2329048X19876199","doi-asserted-by":"publisher","DOI":"10.1159\/000320560"},{"key":"bibr11-2329048X19876199","doi-asserted-by":"publisher","DOI":"10.1007\/s12020-008-9131-5"},{"key":"bibr12-2329048X19876199","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.2000.279.3.C691"},{"key":"bibr13-2329048X19876199","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.8.3161"},{"key":"bibr14-2329048X19876199","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-020081"},{"key":"bibr15-2329048X19876199","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.48.2459"},{"key":"bibr16-2329048X19876199","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.87.7.8639"}],"container-title":["Child Neurology Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X19876199","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2329048X19876199","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X19876199","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:57:57Z","timestamp":1777391877000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2329048X19876199"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,1]]},"references-count":16,"alternative-id":["10.1177\/2329048X19876199"],"URL":"https:\/\/doi.org\/10.1177\/2329048x19876199","relation":{},"ISSN":["2329-048X","2329-048X"],"issn-type":[{"value":"2329-048X","type":"print"},{"value":"2329-048X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,1]]},"article-number":"2329048X19876199"}}