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developmental and epileptic encephalopathy, 5 (DEE5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 5

MONDO:0013277

Also known as:DEE5EIEE5SPTAN1 early infantile epileptic encephalopathy

Overview

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.

GeneticsAutosomal dominant · SPTAN1 (chr 9)

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: Progressive microcephaly, Microcephaly, Spastic tetraplegia, and Seizure and others; and common findings: Hypsarrhythmia, Hypoplasia of the corpus callosum, Shrinkage of the cerebellum (cerebellar atrophy), and Cerebral cortical atrophy and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Brain shrinkage (cerebral atrophy), Spastic tetraplegia, Seizure

Genetic Landscape

SPTAN1 function has not been fully characterized.

Developmental and epileptic encephalopathy, 5 is associated with mutations in the SPTAN1 gene on chromosome 9.

Diagnosis

Genetic testing for SPTAN1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 5 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features, 6 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, 5.

207 publications have been identified in PubMed for developmental and epileptic encephalopathy, 5. Research spans Review / Meta-Analysis (24%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Research summaries	50	24%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613477

GARD

Genetic and Rare Diseases Info Center

GARD:12949

Questions for Your Care Team

→Should I pursue genetic testing for SPTAN1, 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, 5

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, 5

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