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CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1525303465

CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

About this item

Full title

CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

Publisher

United States: Public Library of Science

Journal title

PLoS genetics, 2014-04, Vol.10 (4), p.e1004267-e1004267

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

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 this study, we have identified new mutations in C...

Alternative Titles

Full title

CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1525303465

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1525303465

Other Identifiers

ISSN

1553-7404,1553-7390

E-ISSN

1553-7404

DOI

10.1371/journal.pgen.1004267

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