{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T14:17:12Z","timestamp":1791209832479,"version":"4.1.0"},"reference-count":0,"publisher":"Bioscientifica","content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,5,5]]},"abstract":"<jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>\n                      Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder (OMIM# 602014) characterized by profound hypomagnesemia associated with hypocalcemia. It is caused by mutations in the gene encoding transient receptor potential cation channel member 6 (TRPM6). It usually presents with neurological symptoms in the first months of life. We report a case of a neonate presenting with recurrent seizures and severe hypomagnesemia. The genetic testing revealed a novel variant in the\n                      <jats:italic>TRPM6<\/jats:italic>\n                      gene. The patient has been treated with high-dose magnesium supplementation, remaining asymptomatic and without neurological sequelae until adulthood. Early diagnosis and treatment are important to prevent irreversible neurological damage.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points:<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>\n                          Loss-of-function mutations of\n                          <jats:italic>TRPM6<\/jats:italic>\n                          are associated with FHSH.\n                        <\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>FHSH should be considered in any child with refractory hypocalcemic seizures, especially in cases with serum magnesium levels as low as 0.2 mM.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Normocalcemia and relief of clinical symptoms can be assured by administration of high doses of magnesium.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Untreated, the disorder may be fatal or may result in irreversible neurological damage.<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-20-0005","type":"journal-article","created":{"date-parts":[[2020,5,5]],"date-time":"2020-05-05T04:41:09Z","timestamp":1588653669000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":9,"title":["A novel TRPM6 variant (c.3179T&gt;A) causing familial hypomagnesemia with secondary hypocalcemia"],"prefix":"10.1530","volume":"2020","author":[{"given":"Sara","family":"Lomelino-Pinheiro","sequence":"first","affiliation":[{"name":"1Endocrinology Department, Instituto Portugu\u00eas de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bastos","family":"Margarida","sequence":"additional","affiliation":[{"name":"2Endocrinology, Diabetes and Metabolism Department, Centro Hospitalar Universit\u00e1rio de Coimbra, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana de Sousa","family":"Lages","sequence":"additional","affiliation":[{"name":"2Endocrinology, Diabetes and Metabolism Department, Centro Hospitalar Universit\u00e1rio de Coimbra, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","container-title":["Endocrinology, Diabetes &amp; Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2020\/1\/EDM20-0005.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2020\/1\/EDM20-0005.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:47:16Z","timestamp":1784555236000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3419"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,5]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1530\/edm-20-0005","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,5]]}}}