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Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy
The N-methyl-D-aspartate receptors (NMDARs; GluNRS) are glutamate receptors, commonly located at excitatory synapses. Mutations affecting receptor function often lead to devastating neurodevelopmental disorders. We have identified two toddlers with different heterozygous missense mutations of the sa...
Autores principales: | Kellner, Shai, Abbasi, Abeer, Carmi, Ido, Heinrich, Ronit, Garin-Shkolnik, Tali, Hershkovitz, Tova, Giladi, Moshe, Haitin, Yoni, Johannesen, Katrine M, Steensbjerre Møller, Rikke, Berlin, Shai |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
eLife Sciences Publications, Ltd
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260228/ https://www.ncbi.nlm.nih.gov/pubmed/34212862 http://dx.doi.org/10.7554/eLife.67555 |
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