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developmental and epileptic encephalopathy 103 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy 103

MONDO:0030957

Also known as:DEE103

Overview

GeneticsAutosomal dominant · KCNC2 (chr 12)

ResearchLimited published research (8 articles)

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: Poor head control, Delayed CNS myelination, Severe intellectual disability, and Intellectual disability and others; and very common findings: Myoclonic seizure. 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	18	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) 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.

KCNC2 encodes potassium voltage-gated channel subfamily C member 2 (638 aa). Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Highest expression in Brain Frontal Cortex BA9 (37.0 TPM) and Brain Anterior cingulate cortex BA24 (22.2 TPM).

Developmental and epileptic encephalopathy 103 is associated with mutations in the KCNC2 gene on chromosome 12.

KCNC2 is classified as a druggable target (Druggable Genome, Ion Channel, and Kinase categories) with score 0.2.

Diagnosis

Genetic testing for KCNC2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy 103 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 17 always present features, 1 very common feature, 4 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 103.

8 publications have been identified in PubMed for developmental and epileptic encephalopathy 103. Research spans Epidemiology / Natural History (38%), Diagnostic / Biomarker (13%), and Review / Meta-Analysis (13%).

Recent Publications

Gerstner T (2026). [PMID: 42035682](https://pubmed.ncbi.nlm.nih.gov/42035682/). *Seizure*. [Epidemiology / Natural History]
Ślusarczyk K (2026). [PMID: 41581294](https://pubmed.ncbi.nlm.nih.gov/41581294/). *Molecular genetics and metabolism*. [Case Report / Case Series]
Wagner K (2025). [PMID: 40207589](https://pubmed.ncbi.nlm.nih.gov/40207589/). *Epilepsia*. [Diagnostic / Biomarker]
Varela T (2025). [PMID: 40649845](https://pubmed.ncbi.nlm.nih.gov/40649845/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Amin S (2025). [PMID: 40493384](https://pubmed.ncbi.nlm.nih.gov/40493384/). *JMIR formative research*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619913

Questions for Your Care Team

→Should I pursue genetic testing for KCNC2, 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 103

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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