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

• Main Authors: Michelle Stewart (Author), Petrina Lau (Author), Gareth Banks (Author), Rasneer Sonia Bains (Author), Enrico Castroflorio (Author), Peter L. Oliver (Author), Christine L. Dixon (Author), Michael C. Kruer (Author), Dimitri M. Kullmann (Author), Abraham Acevedo-Arozena (Author), Sara E. Wells (Author), Silvia Corrochano (Author), Patrick M. Nolan (Author)
• Format: Book
• Published: The Company of Biologists, 2019-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...