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developmental and epileptic encephalopathy, 67 (DEE67) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 67

MONDO:0029138

Also known as:DEE67EIEE67developmental and epileptic encephalopathy 67

Overview

GeneticsAutosomal dominant · CUX2 (chr 12)

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: EEG abnormality, Global developmental delay, and Intellectual disability; and common findings: Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, and Recurrent hand flapping and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Difficulty walking (gait disturbance)

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.

CUX2 encodes cut like homeobox 2 (1,486 aa). Transcription factor involved in the control of neuronal proliferation and differentiation in the brain. Highest expression in Brain Cortex (16.2 TPM) and Brain Frontal Cortex BA9 (13.9 TPM).

Developmental and epileptic encephalopathy, 67 is associated with mutations in the CUX2 gene on chromosome 12.

CUX2 is classified as a druggable target (Transcription Factor category) with score 3.7.

Diagnosis

Genetic testing for CUX2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 5 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, 67.

20 publications have been identified in PubMed for developmental and epileptic encephalopathy, 67. Research spans Epidemiology / Natural History (50%), Review / Meta-Analysis (15%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Disease patterns and progression	10	50%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618141

GARD

Genetic and Rare Diseases Info Center

GARD:16295

Questions for Your Care Team

→Should I pursue genetic testing for CUX2, 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, 67

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

developmental and epileptic encephalopathy, 67

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications