{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T17:53:41Z","timestamp":1777312421487,"version":"3.51.4"},"reference-count":46,"publisher":"Hamad bin Khalifa University Press (HBKU Press)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025]]},"abstract":"\n Background:<\/jats:bold>\n Hypocalcemia is an electrolyte disorder that can be effectively corrected. However, in its severe form, it poses significant risks, including potentially fatal symptoms such as electrocardiographic changes that may lead to sudden cardiac arrest if not treated promptly.\n <\/jats:p>\n \n Case presentation:<\/jats:bold>\n We report the case of a young female patient who presented with multiple episodes of tonic posturing and altered level of consciousness. Diagnostic evaluation revealed severe hypocalcemia with hypomagnesemia, QT prolongation, and episodes of non-sustained ventricular tachycardia. The condition was managed with calcium and magnesium supplementation. Further investigations revealed a novel missense mutation in transient receptor potential melastatin 3 (TRPM3).\n <\/jats:p>\n \n Discussion:<\/jats:bold>\n Hypocalcemic seizures are rare in adults and are typically associated with severe hypocalcemia and cardiovascular instability, including ventricular dysrhythmias. The differential diagnoses in this case included primary hypoparathyroidism, Bartter syndrome type 5 (CaSR (calcium-sensing receptor) mutation), Gitelman syndrome, and claudin mutations. TRPM3 is highly expressed in kidney tissue, playing a role in the resorption of calcium and divalent ions. However, further research is needed to confirm its role in calcium homeostasis.\n <\/jats:p>\n \n Conclusion:<\/jats:bold>\n The patient was initially misdiagnosed with epilepsy for the past two years. Following a comprehensive evaluation, she was successfully treated with intravenous calcium and magnesium. On follow-up after six months, her condition showed marked improvement, characterized by better cardiac function and the absence of further seizure episodes. This case represents the first reported instance of a TRPM3 mutation affecting calcium channels, highlighting the need for further investigation into its implications for calcium metabolism.\n <\/jats:p>","DOI":"10.5339\/qmj.2025.28","type":"journal-article","created":{"date-parts":[[2025,4,21]],"date-time":"2025-04-21T03:30:26Z","timestamp":1745206226000},"source":"Crossref","is-referenced-by-count":1,"title":["Novel TRPM3 missense mutation leading to severe hypocalcemia presenting as seizures and complicated by non-sustained ventricular tachycardia: A case report"],"prefix":"10.5339","volume":"2025","author":[{"given":"Pyrus","family":"Bhellum","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, AIIMS, Jodhpur, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shekhar","family":"Angirekula","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, AIIMS, Jodhpur, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amit","family":"Kumar Rohila","sequence":"additional","affiliation":[{"name":"Department of Trauma and Emergency, AIIMS, Jodhpur, India*Correspondence: Pyrus Bhellum. Email: pyrusbhellum@gmail.com"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ankur","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Trauma and Emergency, AIIMS, Jodhpur, India*Correspondence: Pyrus Bhellum. Email: pyrusbhellum@gmail.com"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ankur","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Trauma and Emergency, AIIMS, Jodhpur, India*Correspondence: Pyrus Bhellum. Email: pyrusbhellum@gmail.com"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Namrata","family":"Mathur","sequence":"additional","affiliation":[{"name":"Department of Trauma and Emergency, AIIMS, Jodhpur, India*Correspondence: Pyrus Bhellum. Email: pyrusbhellum@gmail.com"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3277","reference":[{"issue":"(2):","key":"CIT0001","series-title":"J Clin Invest","first-page":"318\u201334","article-title":"Ionized calcium in normal serum, ultrafiltrates, and whole blood determined by ion-exchange electrodes","volume":"49","author":"Moore\n \nEW","year":"1970"},{"issue":"(3):","key":"CIT0002","series-title":"Am J Physiol Renal Physiol","first-page":"F485\u201399","article-title":"Physiology and pathophysiology of the calcium-sensing receptor in the kidney","volume":"298","author":"Riccardi\n \nD\n,","year":"2010"},{"issue":"(1):","key":"CIT0003","series-title":"Med Clin North Am","first-page":"93\u2013106","article-title":"Hypocalcemic emergencies","volume":"79","author":"Reber\n \nPM\n,","year":"1995"},{"key":"CIT0004","series-title":"BMJ Case Rep","article-title":"interval and atrial arrhythmias","author":"Nijjer\n \nS\n,"},{"issue":"2019:","key":"CIT0005","series-title":"Ventricular arrhythmia precipitated by severe hypocalcaemia secondary to primary hypoparathyroidism","first-page":"4851073","article-title":"S","author":"Ashwin\n \nRedd","year":"2019"},{"key":"CIT0006","series-title":"Pharmacol Res","first-page":"92\u20139","article-title":"Transient receptor potential TRPM3 channels: pharmacology, signaling,and biological functions","volume":"124:","author":"Thiel\n \nG\n,","year":"2017"},{"issue":"9:","key":"CIT0007","series-title":"eLife","first-page":"e55634","article-title":"Disease-associated mutations in the human TRPM3 render the channel overactive via two distinct mechanisms","author":"Zhao\n \nS\n,","year":"2020"},{"issue":"(7698):","key":"CIT0008","series-title":"Nature","first-page":"662\u20136","article-title":"A TRP channel trio mediates acute noxious heat sensing","volume":"555","author":"Vandewauw\n \nI\n,","year":"2018"},{"issue":"(4):","key":"CIT0009","series-title":"Case report. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub","first-page":"454\u20137","article-title":"Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia","volume":"165","author":"Papez\n \nJ\n,","year":"2021"},{"issue":"(2):","key":"CIT0010","series-title":"Nat Genet","first-page":"166\u201370","article-title":"Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family","volume":"31","author":"Schlingmann\n \nKP\n,","year":"2002"},{"issue":"(4):","key":"CIT0011","series-title":"Endocrinol Metab Clin North Am","first-page":"575\u201390","article-title":"Physiology of calcium homeostasis: an overview","volume":"50","author":"Matikainen\n \nN\n,","year":"2021"},{"issue":"(6):","key":"CIT0012","series-title":"Am J Cardiol","first-page":"833\u20139","article-title":"Calcium and the electrocardiogram: II. The electrocardiographic manifestations of hyperparathyroidism and of marked hypercalcemia from various other etiologies","volume":"7","author":"Bronsky\n \nD\n,","year":"1961"},{"issue":"(1):","key":"CIT0013","series-title":"J Clin Neurol","first-page":"21\u201333","article-title":"Acute symptomatic seizures caused by electrolyte disturbances","volume":"12","author":"Nardone\n \nR\n,","year":"2016"},{"issue":"(2):","key":"CIT0014","series-title":"ASN NEURO","first-page":"1759091415578050","article-title":"Hypocalcemia-induced seizure","volume":"7","author":"Han\n \nP\n,","year":"2015"},{"issue":"9:","key":"CIT0015","series-title":"Front Neurol","first-page":"1016","article-title":"Metabolic evaluation of epilepsy: a diagnostic algorithm with focus on treatable conditions","author":"Karnebeek CDM\n \nvan\n,","year":"2018"},{"issue":"(5):","key":"CIT0016","series-title":"JAMA","first-page":"347","article-title":"Electrolyte abnormalities and the electrocardiogram","volume":"203","author":"Winsor\n \nT","year":"1968"},{"issue":"(4):","key":"CIT0017","series-title":"Am J Med Sci","first-page":"226\u20139","article-title":"Reversible congestive heart failure related to profound hypocalcemia secondary to hypoparathyroidism","volume":"333","author":"Kazmi\n \nAS\n,","year":"2007"},{"issue":"(4):","key":"CIT0018","series-title":"Arch Endocrinol Metab","first-page":"582\u20136","article-title":"A rare cause of dilated cardiomyopathy: hypocalcemia","volume":"66","author":"Mutlu\n \nU\n,","year":"2022"},{"issue":"(9):","key":"CIT0019","series-title":"BMJ Case Rep","first-page":"e229822","article-title":"Hypocalcemic cardiomyopathy: a rare presenting manifestation of hypoparathyroidism","volume":"12","author":"Saini\n \nN\n,","year":"2019"},{"issue":"(2):","key":"CIT0020","series-title":"J Emerg Med","first-page":"155\u20139","article-title":"Hypocalcemic cardiac failure in the Emergency Department","volume":"28","author":"Hurley\n \nK\n,","year":"2005"},{"issue":"(2):","key":"CIT0021","series-title":"World J Methodol","first-page":"55\u201361","article-title":"Bartter and Gitelman syndromes: spectrum of clinical manifestations caused by different mutations","volume":"5","author":"Al Shibli\n \nA\n,","year":"2015"},{"issue":"(6):","key":"CIT0022","series-title":"Clin Nephrol","first-page":"346\u201352","article-title":"Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair","volume":"85","author":"Sharma\n \nS\n,","year":"2016"},{"issue":"(23):","key":"CIT0023","series-title":"J Biol Chem","first-page":"20890\u20137","article-title":"Expression and characterization of human transient receptor potential melastatin 3 (hTRPM3)","volume":"278","author":"Lee\n \nN\n,","year":"2003"},{"issue":"(2):","key":"CIT0001","series-title":"J Clin Invest","first-page":"318\u201334","article-title":"Ionized calcium in normal serum, ultrafiltrates, and whole blood determined by ion-exchange electrodes","volume":"49","author":"Moore\n \nEW","year":"1970"},{"issue":"(3):","key":"CIT0002","series-title":"Am J Physiol Renal Physiol","first-page":"F485\u201399","article-title":"Physiology and pathophysiology of the calcium-sensing receptor in the kidney","volume":"298","author":"Riccardi\n \nD\n,","year":"2010"},{"issue":"(1):","key":"CIT0003","series-title":"Med Clin North Am","first-page":"93\u2013106","article-title":"Hypocalcemic emergencies","volume":"79","author":"Reber\n \nPM\n,","year":"1995"},{"key":"CIT0004","series-title":"BMJ Case Rep","article-title":"interval and atrial arrhythmias","author":"Nijjer\n \nS\n,"},{"issue":"2019:","key":"CIT0005","series-title":"Ventricular arrhythmia precipitated by severe hypocalcaemia secondary to primary hypoparathyroidism","first-page":"4851073","article-title":"S","author":"Ashwin\n \nRedd","year":"2019"},{"key":"CIT0006","series-title":"Pharmacol Res","first-page":"92\u20139","article-title":"Transient receptor potential TRPM3 channels: pharmacology, signaling,and biological functions","volume":"124:","author":"Thiel\n \nG\n,","year":"2017"},{"issue":"9:","key":"CIT0007","series-title":"eLife","first-page":"e55634","article-title":"Disease-associated mutations in the human TRPM3 render the channel overactive via two distinct mechanisms","author":"Zhao\n \nS\n,","year":"2020"},{"issue":"(7698):","key":"CIT0008","series-title":"Nature","first-page":"662\u20136","article-title":"A TRP channel trio mediates acute noxious heat sensing","volume":"555","author":"Vandewauw\n \nI\n,","year":"2018"},{"issue":"(4):","key":"CIT0009","series-title":"Case report. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub","first-page":"454\u20137","article-title":"Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia","volume":"165","author":"Papez\n \nJ\n,","year":"2021"},{"issue":"(2):","key":"CIT0010","series-title":"Nat Genet","first-page":"166\u201370","article-title":"Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family","volume":"31","author":"Schlingmann\n \nKP\n,","year":"2002"},{"issue":"(4):","key":"CIT0011","series-title":"Endocrinol Metab Clin North Am","first-page":"575\u201390","article-title":"Physiology of calcium homeostasis: an overview","volume":"50","author":"Matikainen\n \nN\n,","year":"2021"},{"issue":"(6):","key":"CIT0012","series-title":"Am J Cardiol","first-page":"833\u20139","article-title":"Calcium and the electrocardiogram: II. The electrocardiographic manifestations of hyperparathyroidism and of marked hypercalcemia from various other etiologies","volume":"7","author":"Bronsky\n \nD\n,","year":"1961"},{"issue":"(1):","key":"CIT0013","series-title":"J Clin Neurol","first-page":"21\u201333","article-title":"Acute symptomatic seizures caused by electrolyte disturbances","volume":"12","author":"Nardone\n \nR\n,","year":"2016"},{"issue":"(2):","key":"CIT0014","series-title":"ASN NEURO","first-page":"1759091415578050","article-title":"Hypocalcemia-induced seizure","volume":"7","author":"Han\n \nP\n,","year":"2015"},{"issue":"9:","key":"CIT0015","series-title":"Front Neurol","first-page":"1016","article-title":"Metabolic evaluation of epilepsy: a diagnostic algorithm with focus on treatable conditions","author":"Karnebeek CDM\n \nvan\n,","year":"2018"},{"issue":"(5):","key":"CIT0016","series-title":"JAMA","first-page":"347","article-title":"Electrolyte abnormalities and the electrocardiogram","volume":"203","author":"Winsor\n \nT","year":"1968"},{"issue":"(4):","key":"CIT0017","series-title":"Am J Med Sci","first-page":"226\u20139","article-title":"Reversible congestive heart failure related to profound hypocalcemia secondary to hypoparathyroidism","volume":"333","author":"Kazmi\n \nAS\n,","year":"2007"},{"issue":"(4):","key":"CIT0018","series-title":"Arch Endocrinol Metab","first-page":"582\u20136","article-title":"A rare cause of dilated cardiomyopathy: hypocalcemia","volume":"66","author":"Mutlu\n \nU\n,","year":"2022"},{"issue":"(9):","key":"CIT0019","series-title":"BMJ Case Rep","first-page":"e229822","article-title":"Hypocalcemic cardiomyopathy: a rare presenting manifestation of hypoparathyroidism","volume":"12","author":"Saini\n \nN\n,","year":"2019"},{"issue":"(2):","key":"CIT0020","series-title":"J Emerg Med","first-page":"155\u20139","article-title":"Hypocalcemic cardiac failure in the Emergency Department","volume":"28","author":"Hurley\n \nK\n,","year":"2005"},{"issue":"(2):","key":"CIT0021","series-title":"World J Methodol","first-page":"55\u201361","article-title":"Bartter and Gitelman syndromes: spectrum of clinical manifestations caused by different mutations","volume":"5","author":"Al Shibli\n \nA\n,","year":"2015"},{"issue":"(6):","key":"CIT0022","series-title":"Clin Nephrol","first-page":"346\u201352","article-title":"Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair","volume":"85","author":"Sharma\n \nS\n,","year":"2016"},{"issue":"(23):","key":"CIT0023","series-title":"J Biol Chem","first-page":"20890\u20137","article-title":"Expression and characterization of human transient receptor potential melastatin 3 (hTRPM3)","volume":"278","author":"Lee\n \nN\n,","year":"2003"}],"container-title":["Qatar Medical Journal"],"original-title":[],"link":[{"URL":"https:\/\/www.qscience.com\/view\/journals\/qmj\/2025\/1\/article-28.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.qscience.com\/downloadpdf\/journals\/qmj\/2025\/1\/article-28.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/www.qscience.com\/downloadpdf\/journals\/qmj\/2025\/1\/article-28.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T17:16:49Z","timestamp":1777310209000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.qscience.com\/view\/journals\/qmj\/2025\/1\/article-28.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":46,"journal-issue":{"issue":"1"},"URL":"https:\/\/doi.org\/10.5339\/qmj.2025.28","relation":{},"ISSN":["2227-0426"],"issn-type":[{"value":"2227-0426","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025]]}}}