The association between EEF1A2 (Eukaryotic Translation Elongation Factor 1 Alpha 2) and Developmental And Epileptic Encephalopathy 33 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.
Sources4
Clinical variants438
Symptoms24
Compounds0
Trials0
Publications19
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
