Article
CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
PLoS genetics - 1 Apr 2014
Arjona Francisco J, de Baaij Jeroen H F, Schlingmann Karl P, Lameris Anke L L, van Wijk Erwin, Flik Gert, Regele Sabrina, Korenke G Christoph, Neophytou Birgit, Rust Stephan, Reintjes Nadine, Konrad Martin, Bindels René J M, Hoenderop Joost G J
Abstract excerpt
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 CNNM2 in five families suffering from mental retardation, seizures,...
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