Grant F. Marshall

The paper investigates the E122K mutation in EEF1A2, showing it affects specific transcript translation but not global protein synthesis rate in neurons.

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

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