Living with Developmental and epileptic encephalopathy, 64
A rare brain and seizure condition that begins in the first year of life and affects development, movement, and language.
Understanding Developmental and epileptic encephalopathy, 64
It usually begins in the first year of life with seizures. People often have intellectual disability, slow motor development, and little or no speech. Many have low muscle tone, unusual movements, and facial differences. Severity varies. Some people cannot speak or walk, while others understand some basic communication.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Global developmental delay
- Absent speech
- Inability to walk
- Small head size (microcephaly)
- 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 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
GARD doesn't name a gene. It lists autosomal dominant inheritance, so a changed copy of the gene from one parent can be enough.
Also known as: dee64; developmental and epileptic encephalopathy 64; eiee64; epileptic encephalopathy, early infantile, 64; rhobtb2 syndrome; rhobtb2-associated neurodevelopmental disorders
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, 64.
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