Living with Severe myoclonic epilepsy in infancy
A genetic seizure disorder (Dravet syndrome) that starts in infancy and can affect movement, speech and learning.
Understanding Severe myoclonic epilepsy in infancy
Seizures first appear in infancy and are often set off by high temperatures (febrile seizures). In childhood, many types of seizures may occur and may become more frequent. Seizures can be hard to treat. Other symptoms include loss of motor skills, intellectual disability, speech problems and difficulty with movement. Diagnosis is based on an exam, medical history and genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures set off by fever
- Many types of seizures
- Sudden muscle jerks (myoclonus)
- Loss of skills already learned
- Cognitive impairment
- Autistic behavior or anxiety
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
Dravet Syndrome Foundation, Inc, FamilieSCN2A and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Dravet Syndrome Foundation, Inc, FamilieSCN2A, 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 Dravet Syndrome Foundation, Inc 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
Most cases happen when the SCN1A gene is not working correctly. It can be inherited in an autosomal dominant pattern, but most people with Dravet syndrome have no family history of it.
Also known as: dravet; dravet syndrome; drvt; ds; ds - dravet syndrome; epileptic encephalopathy, early infantile, 6 (dravet syndrome)
Patient organizations
- Dravet Syndrome Foundation, IncSevere myoclonic epilepsy in infancy · United States
- FamilieSCN2ASevere myoclonic epilepsy in infancy · United States
- Simons SearchlightSevere myoclonic epilepsy in infancy · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Severe myoclonic epilepsy in infancy.
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