Cerebral malformation with epilepsy

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ORPHA:166478
Who is this for?
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1Active trials21Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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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

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗NORD ↗

FDA & Trial Timeline

2 events
Mar 2025Cartography of Social Cognition Network and Their Alterations in Patients With Epilepsy

Assistance Publique - Hôpitaux de Paris — NA

TrialRECRUITING
Jan 2022CNKSR2 Natural History Study

University of California, San Francisco

TrialRECRUITING

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 →

Clinical Trials

1 recruitingView all trials with filters →
N/A1 trial
Cartography of Social Cognition Network and Their Alterations in Patients With Epilepsy
N/A
Actively Recruiting
· Sites: Gif-sur-Yvette; Paris · Age: 1865 yrs

Specialists

21 foundView all specialists →
BC
Betsy Roth-Wojcicki, MS, CPNP
Specialist
PI on 1 active trial
KC
Kathleen Sawin, DNS, CPNP,
Specialist
PI on 1 active trial
HP
Hai Ming Wong, PhD
FORT MYERS, FL
Specialist
PI on 1 active trial
MM
Michio Hirano, MD
NEW YORK, NY
Specialist
PI on 10 active trials
AM
Amit Ray, MD
Kissimmee, Florida
Specialist

Rare Disease Specialist

PI on 2 active trials1 Cerebral malformation with epilepsy publication
KK
Katarzyna Kotulska-Jozwiak
Specialist
PI on 1 active trial2 Cerebral malformation with epilepsy publications
EM
Elizabeth M McCormick, MS
Specialist
PI on 1 active trial
DM
Dennis J Dlugos, MD
PHILADELPHIA, PA
Specialist
PI on 2 active trials
MM
Marc Kamin, MD
OYSTER BAY, NY
Specialist
PI on 3 active trials
GD
Gian Marco Duma
Specialist
PI on 1 active trial
RM
Richard E Frye, M.D./Ph.D.
DURHAM, NC
Specialist
PI on 3 active trials
AM
Andrew Herzog, M.D., M.Sc.
Specialist
PI on 1 active trial
RM
Robert Fischer, MD
Specialist
PI on 1 active trial
AP
Alex Fay, MD, PhD
CLEVELAND, OH
Specialist
PI on 1 active trial
CP
Cindy J. Fuller, Ph.D.
Specialist
PI on 1 active trial
JP
Jill T. Jesurum, Ph.D.
SEATTLE, WA
Specialist
PI on 1 active trial
HS
Heather Spader
CHARLOTTESVILLE, VA
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Cerebral malformation with epilepsy.

Search all travel grants →NORD Financial Assistance ↗

Community

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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.