SLC13A5 function has not been fully characterized.

Developmental and epileptic encephalopathy, 25 is associated with mutations in the SLC13A5 gene on chromosome 17.

Genetic testing for SLC13A5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 25 has been reported in the published literature.

No approved treatments are currently available for developmental and epileptic encephalopathy, 25. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for developmental and epileptic encephalopathy, 25, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for developmental and epileptic encephalopathy, 25. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Gene therapy approaches for developmental and epileptic encephalopathy, 25 have been reported in the published literature.

Phenotype severity distribution: 4 always present features, 1 very common feature, 1 common feature.

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.

196 publications have been identified in PubMed for developmental and epileptic encephalopathy, 25. Research spans Epidemiology / Natural History (27%), Basic Science / Preclinical (18%), and Review / Meta-Analysis (17%).

Recent Publications

• Ramos-Mondragon R (2026). [PMID: 41954126](https://pubmed.ncbi.nlm.nih.gov/41954126/). *Epilepsia*. [Basic Science / Preclinical]

• Kallem RR (2026). [PMID: 41491341](https://pubmed.ncbi.nlm.nih.gov/41491341/). *Biomed Chromatogr*. [Diagnostic / Biomarker]

• Li X (2026). [PMID: 41389464](https://pubmed.ncbi.nlm.nih.gov/41389464/). *Seizure*. [Basic Science / Preclinical]

• Glass HC (2026). [PMID: 41482857](https://pubmed.ncbi.nlm.nih.gov/41482857/). *Ann Neurol*. [Epidemiology / Natural History]

• Chen J (2026). [PMID: 41762485](https://pubmed.ncbi.nlm.nih.gov/41762485/). *Epilepsy Res*. [Epidemiology / Natural History]

• Ozlu C (2026). [PMID: 41442826](https://pubmed.ncbi.nlm.nih.gov/41442826/). *Epilepsy research*. [Basic Science / Preclinical]

• Tarquinio D (2026). [PMID: 41809194](https://pubmed.ncbi.nlm.nih.gov/41809194/). *Front Neurol*. [Clinical Trial Publication]

• Młynek M (2026). [PMID: 41898790](https://pubmed.ncbi.nlm.nih.gov/41898790/). *Genes (Basel)*. [Epidemiology / Natural History]

• Jost C (2026). [PMID: 41606215](https://pubmed.ncbi.nlm.nih.gov/41606215/). *Eur J Hum Genet*. [Basic Science / Preclinical]

• Balaram N (2026). [PMID: 42247783](https://pubmed.ncbi.nlm.nih.gov/42247783/). *Epilepsy Behav*. [Epidemiology / Natural History]