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Article

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

2018-08-09

Abstract excerpt

<h4>Summary statement</h4> In this study, we show that the loss of the epilepsy-related gene Frrs1l in mice causes a dramatic reduction in AMPA receptor levels at the synapse. This change elicits severe motor and coordination disabilities, hyperactivity, cognitive defects, behavioural seizures and abnormal electroencephalographic (EEG) patterns. Loss of function mutations in the human AMPA receptor-associated p...

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Literature Corpus work
07beefba-d14a-578a-b1c0-f000ce6f5556
DOI
10.1101/388561
Open publication

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