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developmental and epileptic encephalopathy, 21 (DEE21) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 21

MONDO:0014360

Also known as:DEE21EIEE21NECAP1 early infantile epileptic encephalopathy

Overview

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.

GeneticsAutosomal recessive · NECAP1 (chr 12)

OnsetCONGENITAL

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: Axial hypotonia, Feeding difficulties, Generalized tonic seizure, and Generalized hypotonia and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Generalized tonic seizure, Profound global developmental delay, Brain atrophy

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NECAP1 encodes NECAP endocytosis associated 1 (275 aa). Involved in endocytosis Highest expression in Brain Cerebellar Hemisphere (130.3 TPM) and Brain Cerebellum (92.7 TPM).

Developmental and epileptic encephalopathy, 21 is associated with mutations in the NECAP1 gene on chromosome 12.

NECAP1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NECAP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 21 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 11 always present 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, 21.

140 publications have been identified in PubMed for developmental and epileptic encephalopathy, 21. Research spans Epidemiology / Natural History (30%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (21%).

Research Type	Count	% of Total
Disease patterns and progression	42	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615833

GARD

Genetic and Rare Diseases Info Center

GARD:16017

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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, 21

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, 21

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