Faith C.J. Davies

Early onset motor defects and electrographic seizures in a mouse model of the most common mutation in EEF1A2 related neurodevelopmental disorder, E122K

This paper creates a mouse model of the EEF1A2 E122K mutation, showing early motor defects and electrographic seizures, with insights into its pathogenic mechanisms.

Endogenous epitope tagging of eEF1A2 in mice reveals early embryonic expression of eEF1A2 and subcellular compartmentalisation of neuronal eEF1A1 and eEF1A2

The paper uses gene editing to tag eEF1A2 in mice, revealing its early embryonic expression and distinct subcellular localization compared to eEF1A1 in neurons.