CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.

CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.

Intellectual disability and seizures are frequently associated with hypomagnesemia and have an important genetic component. However, to find the genetic origin of intellectual disability and seizures often remains challenging because of considerable genetic heterogeneity and clinical variability. In...

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Bibliographic Details
Main Authors: Francisco J Arjona, Jeroen H F de Baaij, Karl P Schlingmann, Anke L L Lameris, Erwin van Wijk, Gert Flik, Sabrina Regele, G Christoph Korenke, Birgit Neophytou, Stephan Rust, Nadine Reintjes, Martin Konrad, René J M Bindels, Joost G J Hoenderop
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-04-01
Series:PLoS Genetics
Online Access:https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1004267&type=printable

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https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1004267&type=printable

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