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developmental and epileptic encephalopathy 91 (DEE91) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy 91

MONDO:0020630

Also known as:DEE91epileptic encephalopathy, infantile or early childhood, 1IECEE1

Overview

GeneticsAutosomal dominant · PPP3CA (chr 4)

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: Seizure and Intellectual disability; and common findings: Hypsarrhythmia, Low muscle tone (hypotonia), Multifocal epileptiform discharges, and Cerebral visual impairment and others. 33 total HPO annotations.

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

Genetic Landscape

PPP3CA function has not been fully characterized.

Developmental and epileptic encephalopathy 91 is associated with mutations in the PPP3CA gene on chromosome 4.

Diagnosis

Genetic testing for PPP3CA is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy 91 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 10 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.

No clinical trials have been registered for developmental and epileptic encephalopathy 91.

131 publications have been identified in PubMed for developmental and epileptic encephalopathy 91. Kisho has analyzed 104 by research type. Research spans Review / Meta-Analysis (30%), Epidemiology / Natural History (27%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Research summaries	31	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617711

Questions for Your Care Team

→Should I pursue genetic testing for PPP3CA, and what would the results mean for my family?
→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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Kisho

developmental and epileptic encephalopathy 91

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

developmental and epileptic encephalopathy 91

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications