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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2021
Materias:
Medicine
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

Internet

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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