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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Veröffentlicht in:	PLoS genetics 2014-04, Vol.10 (4), p.e1004267-e1004267
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Animals Binding sites Brain Brain - metabolism Cardiovascular disease Cell Line Cyclins - genetics Embryos Female Gene mutations Genetic aspects Genetic research Health aspects HEK293 Cells Humans Infant Infant, Newborn Intellectual Disability - genetics Intellectual Disability - metabolism Kidney - metabolism Magnesium - metabolism Magnesium deficiency diseases Male Medicine and Health Sciences Mental retardation Mutation Mutation, Missense - genetics Neurological research Phenotype Seizures (Medicine) Seizures - genetics Seizures - metabolism Studies Zebrafish - genetics Zebrafish - metabolism
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