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...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2023-11-01
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Series: | Acta Epileptologica |
Subjects: | |
Online Access: | https://doi.org/10.1186/s42494-023-00142-3 |