{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T08:08:42Z","timestamp":1762848522849,"version":"build-2065373602"},"reference-count":15,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,10,21]]},"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:p>\n                    <jats:named-content content-type=\"indent\">\u2003<\/jats:named-content>\n                    Familial hypomagnesaemia with secondary hypocalcaemia (HSH) is an autosomal recessive disease caused by mutations in the Transient Receptor Potential Melastatin 6 (\n                    <jats:italic>TRPM6<\/jats:italic>\n                    ) gene. It manifests with severe hypomagnesaemia and hypocalcaemia, and its most common clinical presentation is seizures in early infancy. This is a case of an infant with HSH who presented with seizures. Investigation disclosed hypocalcaemia and hypomagnesaemia with undetectable calcitonin and normal parathyroid, and thyroid hormones and vitamin D. Only after a second admission was she discharged on long-term oral magnesium (Mg) supplementation. Genetic investigation revealed a novel variant in the\n                    <jats:italic>TRPM6<\/jats:italic>\n                    gene. At the last consultation, the patient remained asymptomatic, without any complications, under Mg supplementation. Different homozygous mutations have been described in HSH. However, this case describes the presence of two heterozygous variants: c.5785del p.(Glu1929LysfsTer3), and c.3179T&gt;A\u2009p.(Ile1060Asn). HSH might be responsible for permanent neurological sequelae. Nevertheless, the prognosis is good if diagnosis and treatment are established early.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-269226","type":"journal-article","created":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T08:05:36Z","timestamp":1762848336000},"page":"e269226","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Familial hypomagnesaemia with secondary hypocalcaemia: novel\n                    <i>TRPM6<\/i>\n                    variant"],"prefix":"10.1136","volume":"18","author":[{"given":"Rita","family":"Alvelos","sequence":"first","affiliation":[{"name":"Paediatric Service, Local Health Unit of the Aveiro Region, Aveiro, Portugal"},{"name":"Paediatric Nephrology, Paediatric Hospital, Unidade Local de Sa\u00fade de Coimbra, Coimbra, Coimbra District, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00e3o","family":"Nico","sequence":"additional","affiliation":[{"name":"Paediatric Nephrology, Paediatric Hospital, Unidade Local de Sa\u00fade de Coimbra, Coimbra, Coimbra District, Portugal"},{"name":"Paediatric Service, Baixo Mondego Local Health Unit, Figueira da Foz, Coimbra District, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Machado","sequence":"additional","affiliation":[{"name":"Paediatric Nephrology, Paediatric Hospital, Unidade Local de Sa\u00fade de Coimbra, Coimbra, Coimbra District, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina","family":"Cordinh\u00e3","sequence":"additional","affiliation":[{"name":"Paediatric Nephrology, Paediatric Hospital, Unidade Local de Sa\u00fade de Coimbra, Coimbra, Coimbra District, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,11,10]]},"reference":[{"key":"2025111100052939000_18.11.e269226.1","doi-asserted-by":"crossref","DOI":"10.1186\/s12882-024-03725-5","article-title":"Electrolyte disorders related emergencies in children","volume":"25","author":"Zieg","year":"2024","journal-title":"BMC Nephrol"},{"key":"2025111100052939000_18.11.e269226.2","doi-asserted-by":"publisher","DOI":"10.1093\/ndtplus\/sfr163"},{"key":"2025111100052939000_18.11.e269226.3","doi-asserted-by":"crossref","DOI":"10.12659\/AJCR.942498","article-title":"A Rare Case of Neonatal Hypomagnesemia with Secondary Hypocalcemia Caused by a Novel Homozygous TRPM6 Gene Variant","volume":"25","author":"Uddin","year":"2024","journal-title":"Am J Case Rep"},{"key":"2025111100052939000_18.11.e269226.4","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/bs.vh.2018.10.004","article-title":"Aldosterone and Ion Channels","volume":"109","author":"Valinsky","year":"2019","journal-title":"Vitam Horm"},{"key":"2025111100052939000_18.11.e269226.5","doi-asserted-by":"crossref","DOI":"10.1186\/1471-2164-7-159","article-title":"Tissue-specific expression of TRP channel genes in the mouse and its variation in three different mouse strains","volume":"7","author":"Kunert-Keil","year":"2006","journal-title":"BMC Genomics"},{"key":"2025111100052939000_18.11.e269226.6","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M311201200"},{"key":"2025111100052939000_18.11.e269226.7","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1007\/s00251-011-0570-4","article-title":"TRPM channels: same ballpark, different players, and different rules in immunogenetics","volume":"63","author":"Farooqi","year":"2011","journal-title":"Immunogenetics"},{"key":"2025111100052939000_18.11.e269226.8","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-005-1470-y"},{"key":"2025111100052939000_18.11.e269226.9","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2004110989"},{"key":"2025111100052939000_18.11.e269226.10","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2022.834241","article-title":"Case Report: A Novel Non-Canonical Splice Site Variant (c.1638+7T>C) in TRPM6 Cause Primary Homagnesemia With Secondary Hocalcemia","volume":"10","author":"Song","year":"2022","journal-title":"Front Pediatr"},{"key":"2025111100052939000_18.11.e269226.11","first-page":"231","article-title":"A Rare Cause of Seizures: Hypomagnesemia Type 1","volume":"37","author":"Gameiro","year":"2023","journal-title":"pjnh"},{"key":"2025111100052939000_18.11.e269226.12","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2022.912524","article-title":"Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review","volume":"10","author":"Han","year":"2022","journal-title":"Front Pediatr"},{"key":"2025111100052939000_18.11.e269226.13","doi-asserted-by":"crossref","first-page":"454","DOI":"10.5507\/bp.2021.027","article-title":"Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report","volume":"165","author":"Papez","year":"2021","journal-title":"Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub"},{"key":"2025111100052939000_18.11.e269226.14","doi-asserted-by":"publisher","DOI":"10.1038\/ng901"},{"key":"2025111100052939000_18.11.e269226.15","doi-asserted-by":"publisher","DOI":"10.1159\/000350886"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-269226","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T08:05:38Z","timestamp":1762848338000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-269226"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":15,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,11,10]]},"published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1136\/bcr-2025-269226"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-269226","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11]]}}}