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

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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Bibliographic Details
Main Authors: Michelle Stewart, Petrina Lau, Gareth Banks, Rasneer Sonia Bains, Enrico Castroflorio, Peter L. Oliver, Christine L. Dixon, Michael C. Kruer, Dimitri M. Kullmann, Abraham Acevedo-Arozena, Sara E. Wells, Silvia Corrochano, Patrick M. Nolan
Format: Article
Language:English
Published: The Company of Biologists 2019-02-01
Series:Disease Models & Mechanisms
Subjects:
AMPA receptors
Behaviour
Frrs1l
Mouse model
Seizures
Online Access:http://dmm.biologists.org/content/12/2/dmm036806

Internet

http://dmm.biologists.org/content/12/2/dmm036806

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