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developmental and epileptic encephalopathy, 28 (DEE28) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 28

MONDO:0014533

Also known as:DEE28EIEE28WOREE syndrome

Find Clinical TrialsTrials

Overview

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.

GeneticsAutosomal recessive · WWOX (chr 16)

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Bilateral tonic-clonic seizure, Epicanthus, Seizure, and Hand clenching and others; and very common findings: Reduced movement (hypokinesia). 47 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	19	Bilateral tonic-clonic seizure, Focal clonic seizure, Seizure

Genetic Landscape

WWOX function has not been fully characterized.

Developmental and epileptic encephalopathy, 28 is associated with mutations in the WWOX gene on chromosome 16.

Diagnosis

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

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 28 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 14 always present features, 1 very common feature, 12 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

117 publications have been identified in PubMed for developmental and epileptic encephalopathy, 28. Research spans Epidemiology / Natural History (28%), Case Report / Case Series (21%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Disease patterns and progression	33

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616211

GARD

Genetic and Rare Diseases Info Center

GARD:16069

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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developmental and epileptic encephalopathy, 28

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

developmental and epileptic encephalopathy, 28

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications