Living with Developmental and epileptic encephalopathy 94
A CHD2-related condition with early-onset seizures that are hard to treat, and slowed or lost thinking skills.
Understanding Developmental and epileptic encephalopathy 94
Seizures usually start between 6 months and 4 years of age. Types include drop attacks, muscle jerks (myoclonus), and seizures triggered by light. Intellectual disability or autism spectrum disorder is common. Only 32 people were reported at the time GARD's summary was written.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Several types of seizures
- Drop attacks (atonic seizures)
- Intellectual disability
- Autistic behavior
- Loss of developmental milestones
- Long seizures without recovery (status epilepticus)
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 seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- 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 Simons Searchlight and other patient organizations
- 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
GARD ties this condition to the CHD2 gene. It lists autosomal dominant inheritance, so a changed copy of the gene from one parent can be enough.
Also known as: chd2-related neurodevelopmental disorders; childhood onset epileptic encephalopathy; dee94; eeoc; epileptic encephalopathy, childhood-onset
Patient organizations
- Simons SearchlightDevelopmental and epileptic encephalopathy 94 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Developmental and epileptic encephalopathy 94.
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