Living with Developmental and epileptic encephalopathy, 9
A rare X-linked epilepsy that affects only females, with seizures starting in early childhood and often learning challenges.
Understanding Developmental and epileptic encephalopathy, 9
Seizures, with or without fever, start in the first years of life. Most are tonic-clonic, but absence, myoclonic, and atonic seizures also occur. In most cases there is developmental delay and intellectual disability of varying severity. Behavior differences such as autistic features and hyperactivity are common. Male carriers are unaffected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures of several types
- Global developmental delay
- Autistic behavior
- Attention deficit hyperactivity disorder (ADHD)
- Long seizures without recovery (status epilepticus)
- Atonic seizures
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 PCDH19 Alliance 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 doesn't name a gene. It lists X-linked inheritance, meaning the gene is on the X chromosome. Only females are affected, even though male carriers exist.
Also known as: dee9; developmental and epileptic encephalopathy 9; early infantile epileptic encephalopathy 9; early infantile epileptic encephalopathy caused by mutation in pcdh19; early infantile epileptic encephalopathy type 9; early infantile female-limited epilecptic encephalopathy
Patient organizations
- PCDH19 AllianceDevelopmental and epileptic encephalopathy, 9 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Developmental and epileptic encephalopathy, 9.
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