Overview
Early-onset epilepsy-intellectual disability-brain anomalies syndrome (sometimes referred to by its Orphanet code ORPHA:488635) is a rare genetic brain disorder that affects children from a very young age. The condition causes three main problems that often appear together: seizures that start early in life (epilepsy), difficulty with learning and thinking (intellectual disability), and structural differences in how the brain is formed (brain anomalies). These brain differences can be seen on MRI scans and may include abnormal brain folding, reduced brain size, or other changes in brain structure. The seizures in this condition can be hard to control and may take different forms, including full-body convulsions, staring spells, or muscle jerks. Children with this syndrome often have significant delays in reaching milestones like sitting, walking, and talking. Some children may have very limited speech or none at all. Feeding difficulties, low muscle tone (floppiness), and behavioral challenges are also common. There is currently no cure for this syndrome. Treatment focuses on managing symptoms, especially controlling seizures with anti-seizure medications. Children typically need support from many specialists and therapists to help them reach their full potential. Early intervention with speech, occupational, and physical therapy can make a meaningful difference in quality of life.
Key symptoms:
Seizures starting in infancy or early childhoodIntellectual disability ranging from mild to severeDelayed or absent speech and language developmentStructural differences in the brain visible on MRILow muscle tone (floppy muscles)Delayed motor milestones such as sitting and walkingFeeding difficulties in infancyBehavioral challenges or autistic featuresSmall head size (microcephaly) in some casesPoor coordination and balance
Clinical phenotype terms (33)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Early-onset epilepsy-intellectual disability-brain anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Early-onset epilepsy-intellectual disability-brain anomalies syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Early-onset epilepsy-intellectual disability-brain anomalies syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Has a specific genetic cause been found for my child's condition, and what does that mean for treatment?,Which anti-seizure medications are most likely to help, and what are the side effects to watch for?,Should we consider a ketogenic diet, and how would we get started safely?,What therapies (speech, physical, occupational) should my child be receiving, and how often?,What should I do if my child has a seizure that lasts more than 5 minutes?,Are there any clinical trials or research studies that my child might be eligible for?,What support services and educational resources are available for our family?
Common questions about Early-onset epilepsy-intellectual disability-brain anomalies syndrome
What is Early-onset epilepsy-intellectual disability-brain anomalies syndrome?
Early-onset epilepsy-intellectual disability-brain anomalies syndrome (sometimes referred to by its Orphanet code ORPHA:488635) is a rare genetic brain disorder that affects children from a very young age. The condition causes three main problems that often appear together: seizures that start early in life (epilepsy), difficulty with learning and thinking (intellectual disability), and structural differences in how the brain is formed (brain anomalies). These brain differences can be seen on MRI scans and may include abnormal brain folding, reduced brain size, or other changes in brain struct
At what age does Early-onset epilepsy-intellectual disability-brain anomalies syndrome typically begin?
Typical onset of Early-onset epilepsy-intellectual disability-brain anomalies syndrome is infantile. Age of onset can vary across affected individuals.