Author

Manuela Rizzi

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Open access Jul 2026

The most common epilepsy-causing mutation in EEF1A2 (E122K) perturbs the translation of specific transcripts but not the rate of global protein synthesis

P perturbation of expression of a subset of genes, with a slight skew towards downregulation, in both the translatomic and proteomic datasets indicated a down regulation of proteins involved in synaptic function in both the translatomic and proteomic datasets.

Cavan Bennett Ness, Manuela Rizzi, Heather Love et al. · bioRxiv · 0 citations