Living with Neonatal-onset encephalopathy with rigidity and seizures
A rare genetic brain condition with stiffness and hard-to-control seizures starting in the newborn period.
Understanding Neonatal-onset encephalopathy with rigidity and seizures
Babies have stiffness and seizures that are hard to control. Jerking can begin before birth. Babies have small heads, are not visually attentive, do not feed independently, and make little developmental progress. Pauses in breathing and slow heartbeat are frequent. A milder course has been described in some people.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff muscles (rigidity)
- Seizures, including muscle jerks
- Pauses in breathing (apnea)
- Slow heartbeat (bradycardia)
- Feeding difficulties
- Delayed 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 BRAT1 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
GARD lists changes in the BRAT1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: lethal neonatal rigidity-multifocal seizure syndrome; lethal neonatal rigidity, multifocal seizure syndrome; lethal neonatal spasticity-epileptic encephalopathy syndrome; lethal neonatal spasticity, epileptic encephalopathy syndrome
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
Perspectives from people navigating life with Neonatal-onset encephalopathy with rigidity and seizures.
Explore research for Neonatal-onset encephalopathy with rigidity and seizures
Explore actively recruiting Neonatal-onset encephalopathy with rigidity and seizures studies with HealthSpark.
Find actively recruiting studies for Neonatal-onset encephalopathy with rigidity and seizures with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Neonatal-onset encephalopathy with rigidity and seizures studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Neonatal-onset encephalopathy with rigidity and seizures
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Neonatal-onset encephalopathy with rigidity and seizures experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.