Living with Developmental and epileptic encephalopathy, 71
A rare genetic condition with seizures and low muscle tone in newborns that are hard to treat, and breathing problems.
Understanding Developmental and epileptic encephalopathy, 71
It causes early seizures that resist treatment, low muscle tone, and breathing failure. Brain imaging shows differences in the folds of the frontal lobes, white matter changes, and loss of tissue. Blood glutamine levels are very high. GARD lists onset in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Low muscle tone (hypotonia)
- Breathing failure or trouble breathing
- Loss of the brain's white matter covering (demyelination)
- Scarring in the brain (gliosis)
- Simplified folds in the 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 GLS 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
- 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 GLS gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: dee71; developmental and epileptic encephalopathy 71; eiee71; epileptic encephalopathy, early infantile, 71; glutaminase deficiency with neonatal epileptic encephalopathy; neonatal epileptic encephalopathy due to deficiency of glutaminase
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
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