CNNM2 Heterozygous Variant Presenting as Hypomagnesemia and West Syndrome: Expanding the Spectrum of CNNM2 Gene-Related Epileptic Disorders
- PMID: 35002148
- PMCID: PMC8680880
- DOI: 10.4103/aian.AIAN_1130_20
CNNM2 Heterozygous Variant Presenting as Hypomagnesemia and West Syndrome: Expanding the Spectrum of CNNM2 Gene-Related Epileptic Disorders
Conflict of interest statement
There are no conflicts of interest.
Figures


Similar articles
-
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.Eur J Med Genet. 2019 Mar;62(3):198-203. doi: 10.1016/j.ejmg.2018.07.014. Epub 2018 Jul 17. Eur J Med Genet. 2019. PMID: 30026055
-
Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.Front Genet. 2021 Aug 20;12:705734. doi: 10.3389/fgene.2021.705734. eCollection 2021. Front Genet. 2021. PMID: 34490037 Free PMC article.
-
CNNM2-Related Disorders: Phenotype and Its Severity Were Associated With the Mode of Inheritance.Front Pediatr. 2021 Sep 16;9:699568. doi: 10.3389/fped.2021.699568. eCollection 2021. Front Pediatr. 2021. PMID: 34604137 Free PMC article.
-
The art of magnesium transport.Magnes Res. 2015 Jul-Sep;28(3):85-91. doi: 10.1684/mrh.2015.0388. Magnes Res. 2015. PMID: 26446763 Review.
-
The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.Semin Pediatr Neurol. 2016 May;23(2):134-42. doi: 10.1016/j.spen.2016.06.002. Epub 2016 Jun 2. Semin Pediatr Neurol. 2016. PMID: 27544470 Review.
Cited by
-
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.Sci Rep. 2024 Mar 22;14(1):6917. doi: 10.1038/s41598-024-57061-7. Sci Rep. 2024. PMID: 38519529 Free PMC article.
-
Two novel variants in CNNM2 disrupts magnesium efflux leading to neurodevelopmental disorders.Front Genet. 2025 Jun 19;16:1600877. doi: 10.3389/fgene.2025.1600877. eCollection 2025. Front Genet. 2025. PMID: 40612795 Free PMC article.
References
-
- Sharawat IK, Kasinathan A, Sahu JK, Sankhyan N. Response to carbamazepine in KCNQ2 related early infantile epileptic encephalopathy. Indian J Pediatr. 2019;86:301–2. - PubMed
-
- Sharawat IK, Yadav J, Saini L. Novel GRIN2B mutation: A rare cause of severe epileptic encephalopathy. Neurol India. 2019;67:562–3. - PubMed
-
- Sood A, Grover N, Sharma R. Biochemical abnormalities in neonatal seizures. Indian J Pediatr. 2003;70:221–4. - PubMed