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Article

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

European journal of medical genetics - 1 Mar 2019

Accogli Andrea, Scala Marcello, Calcagno Annalisa, Napoli Flavia, Di Iorgi Natascia, Arrigo Serena, Mancardi Maria Margherita, Prato Giulia, Pisciotta Livia, Nagel Mato, Severino Mariasavina, Capra Valeria

Abstract excerpt

Magnesium (Mg2+) plays a crucial role in many biological processes especially in the brain, heart and skeletal muscle. Mg2+ homeostasis is regulated by intestinal absorption and renal reabsorption, involving a combination of different epithelial transport pathways. Mutations in any of these transporters result in hypomagnesemia with variable clinical presentations. Among these, CNNM2 is found along the...

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Source

Identifiers

PMID: 30026055
DOI: 10.1016/j.ejmg.2018.07.014

Genes

CNNM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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