Rare hypomagnesemia, seizures, and mental retardation in a 4‐month‐old patient caused by novel <i>CNNM2</i> mutation <scp>Tyr189Cys</scp> : Genetic analysis and review-Reference-Cited by-同舟云学术

Rare hypomagnesemia, seizures, and mental retardation in a 4‐month‐old patient caused by novel CNNM2 mutation Tyr189Cys : Genetic analysis and review

Published:2022-02-16 Issue:4 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Xu Xiaoyan¹^ORCID,Hou Shu²,Sun Weiwei³,Zhu Jing¹,Yuan Jinjing¹,Cui Zhenzhen¹,Wu De¹,Tang Jiulai¹

Affiliation:

1. Department of Pediatrics, Neurological Rehabilitation Center the First Affiliated Hospital of Anhui Medical University Hefei China

2. Department of Pediatrics the First Affiliated Hospital of Anhui Medical University Hefei China

3. Beijing Chigene Translational Medical Research Center Co. Ltd Beijing China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1898

Reference18 articles.

1. CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations

2. CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

3. CrossTalk opposing view: CNNM proteins are not Na+ /Mg2+ exchangers but Mg2+ transport regulators playing a central role in transepithelial Mg2+ (re)absorption

4. Diagnostic dilemma in an adolescent girl with an eating disorder, intellectual disability, and hypomagnesemia;Bamhraz A. A.;Nephron,2021

5. Mg2+-ATP Sensing in CNNM, a Putative Magnesium Transporter

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