Novel CNNM2 Mutation Responsible for Autosomal-Dominant Hypomagnesemia With Seizure

Novel CNNM2 Mutation Responsible for Autosomal-Dominant Hypomagnesemia With Seizure

CNNM2 is primarily expressed in the brain and distal convoluted tubule (DCT) of the kidney. Mutations in CNNM2 have been reported to cause hypomagnesemia, seizure, and intellectual disability (HSMR) syndrome. However, the clinical and functional effect of CNNM2 mutations remains incompletely underst...

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Bibliographic Details
Main Authors: Min-Hua Tseng, Sung-Sen Yang, Chih-Chien Sung, Jhao-Jhuang Ding, Yu-Juei Hsu, Shih-Ming Chu, Shih-Hua Lin
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Genetics
Subjects:
CNNM2
hypomagnesemia
seizure
HSMR syndrome
renal magnesium wasting
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.875013/full

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