Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia

Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia

A series of neurological manifestations such as intellectual disability and epilepsy are closely related to hypomagnesemia. Cyclin M2 (CNNM2) proteins, as a member of magnesium (Mg2+) transporters, were found along the basolateral membrane of distal renal tubules and involved in the reabsorption of...

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Bibliographic Details
Main Authors: Xiucui Li, Shijia Bao, Wei Wang, Xulai Shi, Ying Hu, Feng Li, Qianlei Zhao, Feixia Zheng, Zhongdong Lin
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Genetics
Subjects:
CNNM2
CNBH domain
hypomagnesemia
intellectual disability
intractable epilepsy
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.705734/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.705734/full

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