Early onset motor defects and electrographic seizures in a mouse model of the most common mutation in EEF1A2 related neurodevelopmental disorder, E122K
Grant F. Marshall, Melissa Fasol, Faith C.J. Davies, Matthew Le Seelleur, Alejandra Alvarez, Cavan Bennett-Ness, Alfredo Gonzalez‐Sulser, Catherine M. Abbott
This paper creates a mouse model of the EEF1A2 E122K mutation, showing early motor defects and electrographic seizures, with insights into its pathogenic mechanisms.
bioRxiv · Sep 7, 2023 · PreprintNeuroscience