A case of Gitelman syndrome with homozygous SLC12A3 deletion presenting with epilepsy

A case of Gitelman syndrome with homozygous SLC12A3 deletion presenting with epilepsy

Abstract Background Gitelman syndrome (GS) is a rare autosomal recessive hereditary renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. Case presentation We report a rare case of GS with homozygous loss of SLC12A3 presenting with epilepsy. The...

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Bibliographic Details
Main Authors: Ying Wang, Wenting Huang, Jia Li, Shumin Mao, Wenqiang Fang, Huiqin Xu
Format: Article
Language:English
Published: BMC 2023-11-01
Series:Acta Epileptologica
Subjects:
Gitelman syndrome
Epilepsy
Hypokalemia
SLC12A3
Online Access:https://doi.org/10.1186/s42494-023-00142-3

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