{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T14:18:26Z","timestamp":1780582706531,"version":"3.54.1"},"reference-count":12,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron"],"published-print":{"date-parts":[[2021]]},"abstract":"<jats:p>Neurological disorders, including seizures, migraine, depression, and intellectual disability, are frequently associated with hypomagnesemia. Specifically, magnesium (Mg&lt;sup&gt;2+&lt;\/sup&gt;) channel transient receptor potential melastatin (TRPM) 6 and TRPM7 are essential for brain function and development. Both channels are also localized in renal and intestinal epithelia and are crucial for Mg&lt;sup&gt;2+&lt;\/sup&gt;(re)absorption. Cyclin M2 (CNNM2) is located on the basolateral side of the distal convoluted tubule. In addition, it plays a role in the maintenance of plasma Mg&lt;sup&gt;2+&lt;\/sup&gt; levels along with TRPM6, which is present at the apical level. The &lt;i&gt;CNNM2&lt;\/i&gt; gene is crucial for renal magnesium handling, brain development, and neurological functioning. Here, we identified a novel mutation in the &lt;i&gt;CNNM2&lt;\/i&gt; gene causing a cognitive delay in a girl with hypomagnesemia. We suggest testing for CNNM2 mutation in patients with neurological impairment and hypomagnesemia. <\/jats:p>","DOI":"10.1159\/000518173","type":"journal-article","created":{"date-parts":[[2021,8,19]],"date-time":"2021-08-19T21:00:45Z","timestamp":1629406845000},"page":"717-720","source":"Crossref","is-referenced-by-count":6,"title":["Diagnostic Dilemma in an Adolescent Girl with an Eating Disorder, Intellectual Disability, and Hypomagnesemia"],"prefix":"10.1159","volume":"145","author":[{"given":"Abdulaziz A.","family":"Bamhraz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gijs A.C.","family":"Franken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2372-8486","authenticated-orcid":false,"given":"Jeroen H.F.","family":"de Baaij","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison","family":"Rodrigues","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosheen","family":"Grady","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Deveau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Chanchlani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2021,8,19]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2017.09.022"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-016-3416-3"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00012.2014"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2012.07.033"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004267"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2006.01.024"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M311201200"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1152\/physiol.00039.2007"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2008030327"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1093\/ndtplus\/sfr164"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.02.005"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24182"}],"container-title":["Nephron"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/518173","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/518173","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:12:13Z","timestamp":1745421133000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000518173"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":12,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2021,11,11]]},"published-print":{"date-parts":[[2021,11,16]]}},"URL":"https:\/\/doi.org\/10.1159\/000518173","archive":["Portico"],"relation":{},"ISSN":["1660-8151","2235-3186"],"issn-type":[{"value":"1660-8151","type":"print"},{"value":"2235-3186","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021]]}}}