Associated Papers
Rare hypomagnesemia, seizures, and mental retardation in a 4-month-old patient caused by novel CNNM2 mutation Tyr189Cys: Genetic analysis and review.
Xu X et al.
Molecular Genetics & Genomic Medicine, 2022
35170241 (PubMed )
Supplement: MGG3-10-e1898-s001.xlsx › Sheet1
Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.
Li X et al.
Frontiers in Genetics, 2021
CNNM2-Related Disorders: Phenotype and Its Severity Were Associated With the Mode of Inheritance.
Zhang H et al.
Frontiers in Pediatrics, 2021
Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.
García-Castaño A et al.
Plos One, 2020
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.
Accogli A et al.
European Journal of Medical Genetics, 2019
Genetics of Magnesium Disorders.
Li H et al.
Kidney Diseases (basel, Switzerland), 2017
CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.
Stuiver M et al.
American Journal of Human Genetics, 2011
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