Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

developmental and epileptic encephalopathy 107 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy 107

MONDO:0031055

Also known as:DEE107

Overview

GeneticsAutosomal recessive · NAPB (chr 20)

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, Axial hypotonia, Microcephaly, and Seizure and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Seizure, Profound intellectual disability, Global developmental delay

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.

NAPB encodes NSF attachment protein beta (298 aa). Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus Highest expression in Brain Cerebellar Hemisphere (260.7 TPM) and Brain Frontal Cortex BA9 (247.6 TPM).

Developmental and epileptic encephalopathy 107 is associated with mutations in the NAPB gene on chromosome 20.

NAPB is classified as a druggable target with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for developmental and epileptic encephalopathy 107 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 14 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 107.

17 publications have been identified in PubMed for developmental and epileptic encephalopathy 107. Research spans Epidemiology / Natural History (29%), Case Report / Case Series (24%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Disease patterns and progression	5	29%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620033

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?

← Back to All Diseases

Kisho

developmental and epileptic encephalopathy 107

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 107

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