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developmental and epileptic encephalopathy 114 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy 114

MONDO:0958331

Overview

GeneticsAutosomal dominant · SLC32A1 (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: Low muscle tone (hypotonia), Sleep disturbance, Motor delay, and Intellectual disability and others; and common findings: Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Myoclonic seizure, and Aggressive behavior and others. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	20	Bilateral tonic-clonic seizure, Dystonia, Focal impaired awareness seizure

Genetic Landscape

SLC32A1 function has not been fully characterized.

Developmental and epileptic encephalopathy 114 is associated with mutations in the SLC32A1 gene on chromosome 20.

Diagnosis

Genetic testing for SLC32A1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 8 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 114.

13 publications have been identified in PubMed for developmental and epileptic encephalopathy 114. Research spans Review / Meta-Analysis (38%), Epidemiology / Natural History (38%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Research summaries	5	38%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620774

Questions for Your Care Team

→Should I pursue genetic testing for SLC32A1, 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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developmental and epileptic encephalopathy 114

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 114

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