{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:32:23Z","timestamp":1745469143021,"version":"3.40.4"},"reference-count":21,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2014,9,10]],"date-time":"2014-09-10T00:00:00Z","timestamp":1410307200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,9,10]],"date-time":"2014-09-10T00:00:00Z","timestamp":1410307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; We report the case of a female infant with hypoparathyroidism due to an activating mutation in the calcium-sensing receptor gene. &lt;b&gt;&lt;i&gt;Case Report:&lt;\/i&gt;&lt;\/b&gt; The child presented in the neonatal period with clinical seizures associated with severe hypocalcaemia, hyperphosphataemia, low parathyroid hormone levels and elevated urine calcium:creatinine ratios. She required intravenous calcium and phenobarbitone initially, and then oral 1-alfacalcidol (1-AC) and phenobarbitone were started. The patient had intractable hypocalcaemia in the first 5 months of life despite escalating doses of 1-AC. When the phenobarbitone was stopped at 5 months of age she was admitted soon after with symptomatic hypercalcaemia. We postulate that the phenobarbitone increased the metabolism of 1-AC and thus she needed large doses of 1-AC to treat hypocalcaemia until the phenobarbitone was stopped. Her parents had no biochemical abnormalities on testing. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; Molecular genetic analysis confirmed that our patient had a de novo missense variant, c.682G&gt;A (p.Glu228Lys) in exon 4 of the calcium-sensing receptor. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; This case report highlights the importance that clinicians caring for children on vitamin D and its analogues are aware of the interaction with phenobarbitone, which can result in symptomatic hypocalcaemia. 1-AC should be stored at 2-8\u00b0C, otherwise it will be rendered inactive.<\/jats:p>","DOI":"10.1159\/000365048","type":"journal-article","created":{"date-parts":[[2014,9,10]],"date-time":"2014-09-10T06:57:50Z","timestamp":1410332270000},"page":"62-66","source":"Crossref","is-referenced-by-count":2,"title":["Anticonvulsant Treatment Associated with Intractable Hypocalcaemia in a Female Child with Hypoparathyroidism"],"prefix":"10.1159","volume":"83","author":[{"given":"Nancy","family":"Formosa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Torpiano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeremy","family":"Allgrove","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehul T.","family":"Dattani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2014,9,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/366575a0"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90617-Y"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/S1877-1173(09)89003-0"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.11.5313"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1055\/s-2006-924315"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M408587200"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M708087200"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-303"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106868"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1345\/aph.1D467"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1677\/JME-08-0164"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2011.04142.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21428"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds105"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1216"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2552"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.10.3480"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021736"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2605"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-2464"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1007\/s12020-012-9618-y"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/365048","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/365048","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:54:37Z","timestamp":1745430877000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000365048"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,10]]},"references-count":21,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2015,2,1]]},"published-print":{"date-parts":[[2015,2,26]]}},"URL":"https:\/\/doi.org\/10.1159\/000365048","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2014,9,10]]}}}