EEF1A2 encodes eukaryotic translation elongation factor 1 alpha 2 (463 aa). Translation elongation factor that catalyzes the GTP-dependent binding of aminoacyl-tRNA (aa-tRNA) to the A-site of ribosomes during the elongation phase of protein synthesis. Highest expression in Muscle Skeletal (2,328 TPM) and Brain Cerebellar Hemisphere (972.2 TPM).

Developmental and epileptic encephalopathy, 33 is associated with mutations in the EEF1A2 gene on chromosome 20.

EEF1A2 is classified as a druggable target with score 26.1.

Genetic testing for EEF1A2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 33 has been reported in the published literature.

Phenotype severity distribution: 17 always present features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 33.

87 publications have been identified in PubMed for developmental and epileptic encephalopathy, 33. Research spans Epidemiology / Natural History (41%), Review / Meta-Analysis (16%), and Clinical Trial Publication (15%).

Recent Publications

• Miles JT (2026). [PMID: 41389010](https://pubmed.ncbi.nlm.nih.gov/41389010/). *J Neurophysiol*. [Epidemiology / Natural History]

• Coppola A (2026). [PMID: 41558068](https://pubmed.ncbi.nlm.nih.gov/41558068/). *Epilepsy Res*. [Review / Meta-Analysis]

• Tan M (2026). [PMID: 41642117](https://pubmed.ncbi.nlm.nih.gov/41642117/). *Epilepsia*. [Basic Science / Preclinical]

• Fasaludeen A (2026). [PMID: 41619470](https://pubmed.ncbi.nlm.nih.gov/41619470/). *Pediatr Neurol*. [Epidemiology / Natural History]

• Lea TA (2026). [PMID: 41380247](https://pubmed.ncbi.nlm.nih.gov/41380247/). *Epilepsy Behav*. [Clinical Trial Publication]

• Galassi Deforie V (2026). [PMID: 41860019](https://pubmed.ncbi.nlm.nih.gov/41860019/). *Genet Med*. [Basic Science / Preclinical]

• Balestrini S (2026). [PMID: 41137852](https://pubmed.ncbi.nlm.nih.gov/41137852/). *Epilepsia*. [Epidemiology / Natural History]

• Sun XL (2026). [PMID: 42039691](https://pubmed.ncbi.nlm.nih.gov/42039691/). *Drug Des Devel Ther*. [Epidemiology / Natural History]

• Lee ST (2026). [PMID: 41863185](https://pubmed.ncbi.nlm.nih.gov/41863185/). *Neurotherapeutics*. [Epidemiology / Natural History]

• Biagioni T (2026). [PMID: 41663195](https://pubmed.ncbi.nlm.nih.gov/41663195/). *Arch Dis Child Fetal Neonatal Ed*. [Diagnostic / Biomarker]