{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T06:30:52Z","timestamp":1756189852196,"version":"3.40.5"},"reference-count":16,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2023-0378_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Hereditary hypomagnesemia with secondary hypocalcemia (HSH), which results from variations in the transient receptor potential melastatin 6 (<jats:italic>TRPM6<\/jats:italic>) genes, is a rare hereditary cause of extremely low serum magnesium levels. We describe an infant with triggered seizures due to hypomagnesemia and a novel mutation in <jats:italic>TRPM6<\/jats:italic> gene was identified.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0378_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 10-month-old boy presented with multidrug resistant seizures, and axial hypotonia due to severe hypomagnesemia. Electroencephalography and neuroimaging of the patient was normal. He had a favorable outcome with magnesium supplement. In this study, the patient underwent clinical exome sequencing (CES) which detected a novel homozygous variant in the <jats:italic>TRPM6<\/jats:italic> gene: NM_017662.5: c.5571-3C&gt;G. After replacing his magnesium orally, he was free from seizures and had an encouraging outcome at the twelfth-month follow-up.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2023-0378_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>HSH often presents with developmental issues, treatment-resistant seizures, and increased neuromuscular excitability. Untreated hypomagnesemia can potentially be fatal and severely impair cognitive function. Clinical suspicion is essential for early diagnosis and treatment.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2023-0378","type":"journal-article","created":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T09:21:15Z","timestamp":1702372875000},"page":"184-188","source":"Crossref","is-referenced-by-count":1,"title":["Hereditary hypomagnesemia with secondary hypocalcemia caused by a novel mutation in <i>TRPM6<\/i> gene"],"prefix":"10.1515","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1820-8980","authenticated-orcid":false,"given":"\u0130pek","family":"Dokurel \u00c7etin","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology , Balikesir University Medical Faculty , Balikesir , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamide","family":"Bet\u00fcl Gerik-\u00c7elebi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Ataturk City Hospital , Balikesir , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meliha","family":"Demiral","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Endocrinology , Ataturk City Hospital , Balikesir , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orkun","family":"\u00c7etin","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Division of Perinatology , Balikesir University Medical Faculty , Bal\u0131kesir , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,12,13]]},"reference":[{"key":"2024021417134805598_j_jpem-2023-0378_ref_001","doi-asserted-by":"crossref","unstructured":"Lomelino-Pinheiro, S, Bastos, M, de Sousa Lages A. A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia. Endocrinol Diabetes Metab Case Rep 2020;2020:1\u20136. https:\/\/doi.org\/10.1530\/edm-20-0005.","DOI":"10.1530\/EDM-20-0005"},{"key":"2024021417134805598_j_jpem-2023-0378_ref_002","doi-asserted-by":"crossref","unstructured":"de Baaij, JHF, Hoenderop, JGJ, Bindels, RJM. Magnesium in man: implications for health and disease. Physiol Rev 2015;95:1\u201346. https:\/\/doi.org\/10.1152\/physrev.00012.2014.","DOI":"10.1152\/physrev.00012.2014"},{"key":"2024021417134805598_j_jpem-2023-0378_ref_003","doi-asserted-by":"crossref","unstructured":"Viering, DHHM, de Baaij, JHF, Walsh, SB, Kleta, R, Bockenhauer, D. Genetic causes of hypomagnesemia, a clinical overview. 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Int J Dev Biol 2015;59:281\u20138. https:\/\/doi.org\/10.1387\/ijdb.150196lr.","DOI":"10.1387\/ijdb.150196lr"},{"key":"2024021417134805598_j_jpem-2023-0378_ref_009","doi-asserted-by":"crossref","unstructured":"Samanta, A, Hughes, TET, Moiseenkova-Bell, VY. Transient receptor potential (TRP) channels. Subcell Biochem 2018;87:141\u201365. https:\/\/doi.org\/10.1007\/978-981-10-7757-9_6.","DOI":"10.1007\/978-981-10-7757-9_6"},{"key":"2024021417134805598_j_jpem-2023-0378_ref_010","doi-asserted-by":"crossref","unstructured":"Schlingmann, KP, Weber, S, Peters, M, Niemann Nejsum, L, Vitzthum, H, Klingel, K, et al.. Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat Genet 2002;31:166\u201370. https:\/\/doi.org\/10.1038\/ng889.","DOI":"10.1038\/ng889"},{"key":"2024021417134805598_j_jpem-2023-0378_ref_011","doi-asserted-by":"crossref","unstructured":"Guran, T, Akcay, T, Bereket, A, Atay, Z, Turan, S, Haisch, L, et al.. Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes. Nephrol Dial Transpl 2012;27:667\u201373. https:\/\/doi.org\/10.1093\/ndt\/gfr300.","DOI":"10.1093\/ndt\/gfr300"},{"key":"2024021417134805598_j_jpem-2023-0378_ref_012","doi-asserted-by":"crossref","unstructured":"Apa, H, Kayserili, E, Agin, H, Hizarcioglu, M, Gulez, P, Berdeli, A. A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation. Indian J Pediatr 2008;75:632\u20134. https:\/\/doi.org\/10.1007\/s12098-008-0121-7.","DOI":"10.1007\/s12098-008-0121-7"},{"key":"2024021417134805598_j_jpem-2023-0378_ref_013","doi-asserted-by":"crossref","unstructured":"Lainez, S, Schlingmann, KP, Van Der Wijst, J, Dworniczak, B, van Zeeland, F, Konrad, M, et al.. New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia. 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J Clin Res Pediatr Endocrinol 2021;13:300\u20137. https:\/\/doi.org\/10.4274\/jcrpe.galenos.2021.2020.0192.","DOI":"10.4274\/jcrpe.galenos.2021.2020.0192"},{"key":"2024021417134805598_j_jpem-2023-0378_ref_016","doi-asserted-by":"crossref","unstructured":"Papez, J, Starha, J, Slaba, K, Hubacek, JA, Pecl, J, Aulicka, S, et al.. Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report. 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