Features include always present findings: Seizure, Secondary microcephaly, EEG with burst suppression, and Abnormality of visual evoked potentials and others; and common findings: Generalized myoclonic seizure and Brain atrophy. 12 total HPO annotations.

SLC25A22 function has not been fully characterized.

Developmental and epileptic encephalopathy, 3 is associated with mutations in the SLC25A22 gene on chromosome 11.

Genetic testing for SLC25A22 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 7 always present features, 2 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 3.

2 publications have been identified in PubMed for developmental and epileptic encephalopathy, 3. Research spans Basic Science / Preclinical (100%).

Recent Publications

• Lee SH (2025). [PMID: 40539845](https://pubmed.ncbi.nlm.nih.gov/40539845/). *Disease models & mechanisms*. [Basic Science / Preclinical]

• Tian J (2024). [PMID: 38858380](https://pubmed.ncbi.nlm.nih.gov/38858380/). *Translational psychiatry*. [Basic Science / Preclinical]