Living with Developmental and epileptic encephalopathy, 17
A rare neurologic condition linked to the GNAO1 gene, with early seizures, developmental delay, and unusual movements.
Understanding Developmental and epileptic encephalopathy, 17
Symptoms can include severe intellectual disability, low muscle tone, irregular muscle contractions (chorea), and involuntary face and tongue movements (dyskinesia). Severity varies. Symptoms may be triggered by strong emotions, illness, and purposeful movements.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures starting early in life
- Global developmental delay
- Absent speech
- Inability to walk
- Irregular muscle contractions (chorea)
- Muscle tensing (dystonia)
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 The Bow Foundation 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
Changes in the GNAO1 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: dee17; developmental and epileptic encephalopathy 17; early infantile epileptic encephalopathy 17; early infantile epileptic encephalopathy caused by mutation in gnao1; early infantile epileptic encephalopathy-17; eiee17
Patient organizations
- The Bow FoundationDevelopmental and epileptic encephalopathy, 17 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Developmental and epileptic encephalopathy, 17.
Explore research for Developmental and epileptic encephalopathy, 17
Explore actively recruiting Developmental and epileptic encephalopathy, 17 studies with HealthSpark.
Find actively recruiting studies for Developmental and epileptic encephalopathy, 17 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Developmental and epileptic encephalopathy, 17 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Developmental and epileptic encephalopathy, 17
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Developmental and epileptic encephalopathy, 17 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.