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

作     者：Ying Wang Wenting Huang Jia Li Shumin Mao Wenqiang Fang Huiqin Xu Ying Wang;Wenting Huang;Jia Li;Shumin Mao;Wenqiang Fang;Huiqin Xu

作者机构：Department of NeurologyThe First Affiliated Hospital of Wenzhou Medical UniversityWenzhouZhejiangChina 

出 版 物：《Acta Epileptologica》 (癫痫学报（英文）)

年 卷 期：2023年第6卷第4期

页      面：272-279页

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

主　　题：Gitelman syndrome Epilepsy Hypokalemia SLC12A3 

摘      要：Background Gitelman syndrome(GS)is a rare autosomal recessive hereditary renal tubular disorder characterized by hypokalemia,metabolic alkalosis,hypomagnesemia,and *** presentation We report a rare case of GS with homozygous loss of SLC12A3 presenting with *** patient was a 21-year-old female who sought medical attention for *** condition primarily manifested as epilepsy,diarrhea,and weakness of *** genetic analysis,we confirmed the diagnosis of this case and formulated a comprehensive approach for its *** This case report extends the clinical symptoms of GS and provides a complete family of GS as a reference for subsequent studies.