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developmental and epileptic encephalopathy 113 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy 113

MONDO:0958330

Overview

GeneticsAutosomal recessive · SV2A (chr 1)

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: Low muscle tone (hypotonia), Elevated brain lactate level by MRS, Reduced brain N-acetyl aspartate level by MRS, and Thin corpus callosum and others; and common findings: Bilateral tonic-clonic seizure, Gastroesophageal reflux, Myoclonic seizure, and Cerebral visual impairment and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Bilateral tonic-clonic seizure, Elevated brain lactate level by MRS, Reduced brain N-acetyl aspartate level by MRS

Genetic Landscape

SV2A function has not been fully characterized.

Developmental and epileptic encephalopathy 113 is associated with mutations in the SV2A gene on chromosome 1.

Diagnosis

Genetic testing for SV2A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy 113 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 13 always present features, 11 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 113.

25 publications have been identified in PubMed for developmental and epileptic encephalopathy 113. Research spans Epidemiology / Natural History (44%), Review / Meta-Analysis (16%), and Gene Therapy / Novel Therapeutics (16%).

Research Type	Count	% of Total
Disease patterns and progression	11	44%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620772

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 113

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 113

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