{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T16:00:11Z","timestamp":1772726411705,"version":"3.50.1"},"reference-count":23,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>An 8-year-old Japanese boy presented with a generalized convulsion. He had hypokalemia (serum K 2.4\u2009mEq\/L), hypomagnesemia, and metabolic alkalosis (BE 5.7\u2009mmol\/L). In addition, his plasma renin activity was elevated. He was tentatively diagnosed with epilepsy on the basis of the electroencephalogram findings and was treated by potassium L-aspartate and carbamazepine to control the hypokalemia and seizure, respectively. However, a year later, the patient continued to have similar abnormal laboratory data. A presumptive diagnosis of Gitelman syndrome (GS) was then made and the patient\u2019s peripheral blood mononuclear cells were subjected to sequence analysis of the<jats:italic>SLC12A3<\/jats:italic>gene, which encodes a thiazide-sensitive sodium-chloride cotransporter. The patient was found to have compound heterozygous mutations, namely, R642H inherited from his father and R642W inherited from his mother. Thus, if a patient shows persistent hypokalemia and metabolic alkalosis, GS must be considered, even if the patient exhibits atypical clinical symptoms.<\/jats:p>","DOI":"10.1155\/2014\/279389","type":"journal-article","created":{"date-parts":[[2014,7,16]],"date-time":"2014-07-16T21:59:56Z","timestamp":1405547996000},"page":"1-5","source":"Crossref","is-referenced-by-count":2,"title":["Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H\/R642W Mutation in the<i>SLC12A3<\/i>Gene"],"prefix":"10.1155","volume":"2014","author":[{"given":"Shigeru","family":"Makino","sequence":"first","affiliation":[{"name":"Division of Pediatrics, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihiro","family":"Tajima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hokkaido Graduate School of Medicine, Sapporo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Shinozuka","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aki","family":"Ikumi","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitoshi","family":"Awaguni","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shin-ichiro","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rikken","family":"Maruyama","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinsaku","family":"Imashuku","sequence":"additional","affiliation":[{"name":"Division of Laboratory Medicine, Uji-Tokushukai Medical Center, Uji, Kyoto 611-0042, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1969.tb13015.x"},{"issue":"9","key":"2","first-page":"1607","volume":"10","year":"1995","journal-title":"Nephrology Dialysis Transplantation"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00011.2004"},{"issue":"1","key":"4","first-page":"37","volume":"6","year":"2013","journal-title":"Arab Journal of Nephrology and Transplantation"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1159\/000330250"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-012-2219-4"},{"issue":"2","key":"22","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/BF00858819","volume":"4","year":"1990","journal-title":"Pediatric Nephrology"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.1016\/S0272-6386(99)70421-X"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1297\/cpe.15.137"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700117"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2005.02.005"},{"issue":"3","key":"10","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1177\/0310057X0102900311","volume":"29","year":"2001","journal-title":"Anaesthesia and Intensive Care"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1097\/MNH.0b013e3282f5244e"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2006.08.005"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.50.5305"},{"issue":"4","key":"14","first-page":"583","volume":"36","year":"2005","journal-title":"Journal of Sichuan University (Medical Science Edition)"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-006-0321-1"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1291\/hypres.27.327"},{"issue":"4","key":"17","first-page":"391","volume":"57","year":"2009","journal-title":"Rinsho Byori. 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