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developmental and epileptic encephalopathy, 57 (DEE57) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 57

MONDO:0033366

Also known as:DEE57EIEE57developmental and epileptic encephalopathy 57

Overview

GeneticsAutosomal dominant · KCNT2 (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: Hypsarrhythmia, Seizure, Staring gaze, and Low muscle tone (hypotonia) and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Loss of previously acquired skills (developmental regression), Generalized myoclonic seizure, Seizure

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.

KCNT2 encodes potassium sodium-activated channel subfamily T member 2 (1,135 aa). Sodium-activated and chloride-activated potassium channel. Produces rapidly activating outward rectifier K(+) currents. Contributes to regulate neuronal excitability Highest expression in Ovary (12.8 TPM) and Artery Coronary (12.5 TPM).

Developmental and epileptic encephalopathy, 57 is associated with mutations in the KCNT2 gene on chromosome 1.

KCNT2 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 2.2.

Diagnosis

Genetic testing for KCNT2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 57 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 10 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, 57.

86 publications have been identified in PubMed for developmental and epileptic encephalopathy, 57. Research spans Epidemiology / Natural History (41%), Review / Meta-Analysis (19%), and Clinical Trial Publication (14%).

Research Type	Count	% of Total
Disease patterns and progression	35	41%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617771

Questions for Your Care Team

→Should I pursue genetic testing for KCNT2, 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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Kisho

developmental and epileptic encephalopathy, 57

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, 57

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