Living with Developmental and epileptic encephalopathy, 23
A rare condition with early seizures, vision loss from the brain, intellectual disability, and distinct facial features.
Understanding Developmental and epileptic encephalopathy, 23
Cortical blindness means vision loss caused by the brain, not the eyes. People have different seizure types and limited or absent speech. Brain imaging typically shows a small pons, a small corpus callosum, and loss of tissue in the back of the brain. GARD lists onset in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures (tonic seizures)
- Intellectual disability
- Vision loss caused by the brain
- Small pons (part of the brainstem)
- Wide-set eyes
- Broad nasal tip and low frontal hairline
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in DOCK7 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the DOCK7 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: dee23; developmental and epileptic encephalopathy 23; early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; eiee23; epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome; epileptic encephalopathy, early infantile, 23
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Developmental and epileptic encephalopathy, 23.
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