Living with Genetic developmental and epileptic encephalopathy
A condition that causes seizures in newborns, usually within the first three months of life.
Understanding Genetic developmental and epileptic encephalopathy
Seizures usually start within the first three months of life. Infants may mainly have tonic seizures, which stiffen the muscles, but can also have partial seizures or, rarely, myoclonic seizures (jerks or twitches). Most infants show underdeveloped cerebral hemispheres (parts of the brain) or structural differences.
Signs & symptoms
GARD describes the main feature as seizures:
- Seizures in the first months of life
- Tonic seizures (muscle stiffening)
- Partial seizures
- Myoclonic seizures (jerks or twitches), less often
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
FamilieSCN2A Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: FamilieSCN2A 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 FamilieSCN2A 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
Some cases are caused by metabolic disorders or by changes in several different genes. GARD says the cause can't be determined for many cases.
Patient organizations
- FamilieSCN2A FoundationGenetic developmental and epileptic encephalopathy · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Genetic developmental and epileptic encephalopathy.
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