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 115 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy 115

MONDO:0968946

Overview

GeneticsAutosomal dominant · SNF8 (chr 17)

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: Difficulty swallowing (dysphagia), Feeding difficulties, Shrinkage of the cerebellum (cerebellar atrophy), and Leukoencephalopathy and others; and very common findings: Global brain atrophy. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Difficulty swallowing (dysphagia), Loss of previously acquired skills (developmental regression), Seizure

Genetic Landscape

SNF8 function has not been fully characterized.

Developmental and epileptic encephalopathy 115 is associated with mutations in the SNF8 gene on chromosome 17.

Diagnosis

Genetic testing for SNF8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy 115 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present features, 1 very common feature, 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 115.

13 publications have been identified in PubMed for developmental and epileptic encephalopathy 115. Research spans Epidemiology / Natural History (46%), Basic Science / Preclinical (23%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Disease patterns and progression	6	46%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620783

Questions for Your Care Team

→Should I pursue genetic testing for SNF8, 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?

← Back to All Diseases

Kisho

developmental and epileptic encephalopathy 115

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 115

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