Overview
Cerebral malformation with epilepsy is a rare neurological condition in which the brain does not develop normally during pregnancy or early life, leading to structural abnormalities in the brain along with recurrent seizures (epilepsy). The term covers a group of conditions where the brain's shape, size, or internal structure is different from typical development. These malformations can affect how the brain processes signals, which often results in seizures that may begin in infancy or early childhood. The symptoms can vary widely depending on which parts of the brain are affected and how severe the malformation is. Common problems include seizures that may be difficult to control with medication, developmental delays, intellectual disability, and difficulties with movement or coordination. Some children may also have trouble with speech, vision, or feeding. Treatment focuses mainly on controlling seizures with anti-epileptic medications. In some cases, surgery may be considered if seizures come from a specific area of the brain that can be safely removed or disconnected. Physical therapy, occupational therapy, and speech therapy are often important parts of care to help children reach their full potential. Because this is a broad category of conditions, the specific outlook and treatment plan depend heavily on the exact type and severity of the brain malformation involved. A team of specialists typically works together to provide the best care.
Key symptoms:
Seizures or convulsionsDevelopmental delaysIntellectual disabilityDifficulty with movement or coordinationSpeech and language delaysAbnormal muscle tone (too stiff or too floppy)Feeding difficulties in infancyVision problemsSmall or unusually shaped headLearning difficultiesBehavioral challengesDifficulty with balance and walking
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
2 eventsAssistance Publique - Hôpitaux de Paris — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Cerebral malformation with epilepsy.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
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 Cerebral malformation with epilepsy.
Community
No community posts yet. Be the first to share your experience with Cerebral malformation with epilepsy.
Start the conversation →Latest news about Cerebral malformation with epilepsy
Disease timeline:
New recruiting trial: Cartography of Social Cognition Network and Their Alterations in Patients With Epilepsy
A new clinical trial is recruiting patients for Cerebral malformation with epilepsy
New recruiting trial: CNKSR2 Natural History Study
A new clinical trial is recruiting patients for Cerebral malformation with epilepsy
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.What specific type of brain malformation does my child have, and what does it mean for their development?,Is genetic testing recommended, and could the results change our treatment plan?,What are the best medication options for controlling seizures, and what side effects should I watch for?,Is my child a candidate for epilepsy surgery or other non-medication treatments?,What therapies (physical, occupational, speech) should we start, and how often?,What should I do if my child has a prolonged seizure or a seizure that looks different from usual?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Cerebral malformation with epilepsy
What is Cerebral malformation with epilepsy?
Cerebral malformation with epilepsy is a rare neurological condition in which the brain does not develop normally during pregnancy or early life, leading to structural abnormalities in the brain along with recurrent seizures (epilepsy). The term covers a group of conditions where the brain's shape, size, or internal structure is different from typical development. These malformations can affect how the brain processes signals, which often results in seizures that may begin in infancy or early childhood. The symptoms can vary widely depending on which parts of the brain are affected and how se
At what age does Cerebral malformation with epilepsy typically begin?
Typical onset of Cerebral malformation with epilepsy is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Cerebral malformation with epilepsy?
Yes — 1 recruiting clinical trial is currently listed for Cerebral malformation with epilepsy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Cerebral malformation with epilepsy?
21 specialists and care centers treating Cerebral malformation with epilepsy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.