UGDH function has not been fully characterized.

Developmental and epileptic encephalopathy, 84 is associated with mutations in the UGDH gene on chromosome 4.

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

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 84 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 2 very common features, 5 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 84.

40 publications have been identified in PubMed for developmental and epileptic encephalopathy, 84. Kisho has analyzed 28 by research type. Research spans Epidemiology / Natural History (32%), Diagnostic / Biomarker (21%), and Review / Meta-Analysis (21%).

Recent Publications

• Kansal B (2026). [PMID: 41498396](https://pubmed.ncbi.nlm.nih.gov/41498396/). *Mov Disord Clin Pract*. [Diagnostic / Biomarker]

• Harwood H (2026). [PMID: 42061477](https://pubmed.ncbi.nlm.nih.gov/42061477/). *Matrix Biol*. [Basic Science / Preclinical]

• van Arnhem MML (2026). [PMID: 41133317](https://pubmed.ncbi.nlm.nih.gov/41133317/). *Epilepsia*. [Epidemiology / Natural History]

• Hou H (2025). [PMID: 40593860](https://pubmed.ncbi.nlm.nih.gov/40593860/). *NPJ Genom Med*. [Diagnostic / Biomarker]

• Samanta D (2025). [PMID: 41106086](https://pubmed.ncbi.nlm.nih.gov/41106086/). *Epilepsy Behav*. [Review / Meta-Analysis]

• Ramantani G (2025). [PMID: 40152452](https://pubmed.ncbi.nlm.nih.gov/40152452/). *Epilepsia*. [Epidemiology / Natural History]

• DeGasperis S (2025). [PMID: 40849994](https://pubmed.ncbi.nlm.nih.gov/40849994/). *Epilepsy Res*. [Clinical Trial Publication]

• Dhindsa RS (2025). [PMID: 40015282](https://pubmed.ncbi.nlm.nih.gov/40015282/). *Am J Hum Genet*. [Basic Science / Preclinical]

• Perry MS (2025). [PMID: 40354745](https://pubmed.ncbi.nlm.nih.gov/40354745/). *Seizure*. [Epidemiology / Natural History]

• Aguilar-Amat Prior MJ (2025). [PMID: 40516368](https://pubmed.ncbi.nlm.nih.gov/40516368/). *Seizure*. [Epidemiology / Natural History]