The most common epilepsy-causing mutation in EEF1A2 (E122K) perturbs the translation of specific transcripts but not the rate of global protein synthesis
Cavan Bennett-Ness, Manuela Rizzi, Heather Love, Nika Balkic, Grant F. Marshall, Alex von Kriegsheim, Emily K. Osterweil, Catherine M. Abbott
The paper investigates the E122K mutation in EEF1A2, showing it affects specific transcript translation but not global protein synthesis rate in neurons.
bioRxiv · Jul 11, 2026 · PreprintNeuroscience