Living with Developmental and/or epileptic encephalopathy with spike-wave activation in sleep
A rare childhood epilepsy with seizures, a distinct sleep EEG pattern, and loss of thinking skills.
Understanding Developmental and/or epileptic encephalopathy with spike-wave activation in sleep
It shows an EEG pattern called electrical status epilepticus in sleep (ESES) and loss of skills in at least two areas of development. It includes what used to be called epileptic encephalopathy with continuous spike-wave in sleep and atypical benign partial epilepsy. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Several types of seizures
- Atypical absence seizures
- Tonic-clonic seizures
- Problems with thinking skills
- Intellectual disability
- Loss of skills in development
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 GRIN2A 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
GRIN2B 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: GRIN2B 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 GRIN2B 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 GRIN2A gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: continuous slow spike and wave of sleep; continuous spike and waves during slow-wave sleep syndrome; continuous spike-wave during slow sleep syndrome; continuous spike-wave in sleep; continuous spikes and waves during sleep; continuous spikes and waves during slow-wave sleep
Patient organizations
- GRIN2B FoundationDevelopmental and/or epileptic encephalopathy with spike-wave activation in sleep · United States
- CureGRINDevelopmental and/or epileptic encephalopathy with spike-wave activation in sleep · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Developmental and/or epileptic encephalopathy with spike-wave activation in sleep.
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