Living with Juvenile absence epilepsy
A genetic form of epilepsy that starts around puberty, with brief staring spells and sometimes larger seizures.
Understanding Juvenile absence epilepsy
It causes absence seizures, brief staring spells that happen from time to time. Many people also have generalized tonic-clonic (grand mal) seizures at some point, and some have sudden muscle jerks (myoclonic jerks). It starts in the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Brief seizures with staring spells (absence seizures)
- Grand mal seizures (tonic-clonic)
- Sudden muscle jerks (myoclonus)
- Seizures affecting the whole brain
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 EFHC1 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
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: 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 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 EFHC1 gene are listed as a cause of this genetic epilepsy.
Also known as: jae; jae - juvenile absence epilepsy
Patient organizations
- Epilepsy FoundationJuvenile absence epilepsy · United States
- Child Neurology FoundationJuvenile absence epilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Juvenile absence epilepsy.
Explore research for Juvenile absence epilepsy
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