Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene

An 8-year-old Japanese boy presented with a generalized convulsion. He had hypokalemia (serum K 2.4 mEq/L), hypomagnesemia, and metabolic alkalosis (BE 5.7 mmol/L). In addition, his plasma renin activity was elevated. He was tentatively diagnosed with epilepsy on the basis of the electroencephalogra...

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Bibliographic Details
Main Authors: Shigeru Makino, Toshihiro Tajima, Jun Shinozuka, Aki Ikumi, Hitoshi Awaguni, Shin-ichiro Tanaka, Rikken Maruyama, Shinsaku Imashuku
Format: Article
Language:English
Published: Wiley 2014-01-01
Series:Case Reports in Pediatrics
Online Access:http://dx.doi.org/10.1155/2014/279389
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