Living with Developmental and epileptic encephalopathy, 4
A condition linked to the STXBP1 gene, with intellectual disability and often seizures that start in infancy.
Understanding Developmental and epileptic encephalopathy, 4
Most people also have repeated seizures. Signs usually begin in infancy but can start later. In many people the seizures stop after a few years, while other neurological problems continue. Some people have seizures that persist. Speech and motor skills can be delayed, and many children walk independently by age 5.
Signs & symptoms
Symptoms vary from person to person. GARD lists these as the most common:
- Intellectual disability (often severe to profound)
- Seizures
- Global developmental delay
- Delayed speech
- Delayed sitting, crawling, and walking
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in STXBP1 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
STXBP1 Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: STXBP1 Foundation, 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 STXBP1 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 STXBP1 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: dee4; developmental and epileptic encephalopathy 4; early infantile epileptic encephalopathy 4; early infantile epileptic encephalopathy caused by mutation in stxbp1; eiee4; epileptic encephalopathy, early infantile, 4
Patient organizations
- STXBP1 FoundationDevelopmental and epileptic encephalopathy, 4 · United States
- Simons SearchlightDevelopmental and epileptic encephalopathy, 4 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Developmental and epileptic encephalopathy, 4.
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