Associated Papers
Two novel variants in CNNM2 disrupts magnesium efflux leading to neurodevelopmental disorders.
Li H et al.
Frontiers in Genetics, 2025
40612795 (PubMed )
Supplement: Supplementaryfile1.docx
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Bosman W et al.
Scientific Reports, 2024
New insights into the structure and function of CNNM proteins.
Chen YS et al.
The Febs Journal, 2023
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
Novel CNNM2 Mutation Responsible for Autosomal-Dominant Hypomagnesemia With Seizure.
Tseng MH et al.
Frontiers in Genetics, 2022
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Franken GAC et al.
Human Mutation, 2021
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
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