Features include always present findings: Intellectual disability, Axial hypotonia, Absent speech, and Global developmental delay; and very common findings: Inability to walk, Microcephaly, and Visual impairment. 21 total HPO annotations.

SLC38A3 function has not been fully characterized.

Developmental and epileptic encephalopathy 102 is associated with mutations in the SLC38A3 gene on chromosome 3.

Genetic testing for SLC38A3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy 102 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 3 very common features, 5 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy 102.

6 publications have been identified in PubMed for developmental and epileptic encephalopathy 102. Research spans Epidemiology / Natural History (33%), Diagnostic / Biomarker (17%), and Review / Meta-Analysis (17%).

Recent Publications

• Kallem RR (2026). [PMID: 41635160](https://pubmed.ncbi.nlm.nih.gov/41635160/). *Biomed Chromatogr*. [Diagnostic / Biomarker]

• Strzelczyk A (2025). [PMID: 40073826](https://pubmed.ncbi.nlm.nih.gov/40073826/). *Epilepsy Behav*. [Epidemiology / Natural History]

• Fialho B (2025). [PMID: 41075530](https://pubmed.ncbi.nlm.nih.gov/41075530/). *Epilepsy Behav*. [Epidemiology / Natural History]

• Luisi C (2024). [PMID: 38820683](https://pubmed.ncbi.nlm.nih.gov/38820683/). *Epilepsy Behav*. [Review / Meta-Analysis]

• Crawford J (2024). [PMID: 38613366](https://pubmed.ncbi.nlm.nih.gov/38613366/). *Clin EEG Neurosci*. [Basic Science / Preclinical]