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

• Main Authors: Shigeru Makino (Author), Toshihiro Tajima (Author), Jun Shinozuka (Author), Aki Ikumi (Author), Hitoshi Awaguni (Author), Shin-ichiro Tanaka (Author), Rikken Maruyama (Author), Shinsaku Imashuku (Author)
• Format: Book
• Published: Hindawi Limited, 2014-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...