Living with Epilepsy with myoclonic atonic seizures
A childhood epilepsy with brief staring spells and muscle jerks, sometimes with learning difficulties.
Understanding Epilepsy with myoclonic atonic seizures
People have absence seizures (brief loss of awareness) and myoclonic seizures (short jerking movements). Many children have delayed development before seizures begin. Intellectual development may be affected afterward, to varying degrees. Most cases are new in the family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Brief staring spells (absence seizures)
- Short jerking movements (myoclonic seizures)
- Sudden loss of muscle tone (atonic seizures)
- Convulsive seizures (tonic-clonic)
- Intellectual disability
- Attention deficit and hyperactivity
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 SLC6A1 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
SLC6A1 Connect 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: SLC6A1 Connect, 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 SLC6A1 Connect 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 SLC6A1 gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough. Most cases occur for the first time in a family as a new change.
Also known as: doose syndrome; emas; emats; emats - epilepsy with myoclonic-atonic seizures; epilepsy with myoclonic-astatic seizures; epilepsy with myoclonic-atonic seizures
Patient organizations
- SLC6A1 ConnectEpilepsy with myoclonic atonic seizures · United States
- Simons SearchlightEpilepsy with myoclonic atonic seizures · United States
- Doose Syndrome Epilepsy AllianceEpilepsy with myoclonic atonic seizures · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Epilepsy with myoclonic atonic seizures.
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