Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities

Loss-of-function mutations in a human AMPA receptor-associated protein, ferric chelate reductase 1-like (FRRS1L), are associated with a devastating neurological condition incorporating choreoathetosis, cognitive deficits and epileptic encephalopathies. Furthermore, evidence from overexpression and e...

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Detalles Bibliográficos
Autores principales: Stewart, Michelle, Lau, Petrina, Banks, Gareth, Bains, Rasneer Sonia, Castroflorio, Enrico, Oliver, Peter L., Dixon, Christine L., Kruer, Michael C., Kullmann, Dimitri M., Acevedo-Arozena, Abraham, Wells, Sara E., Corrochano, Silvia, Nolan, Patrick M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398485/
https://www.ncbi.nlm.nih.gov/pubmed/30692144
http://dx.doi.org/10.1242/dmm.036806

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