Epilepsy of infancy with migrating focal seizures

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ORPHA:293181OMIM:613722G40.0
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Overview

Epilepsy of infancy with migrating focal seizures (EIMFS), also known as migrating partial seizures of infancy or malignant migrating partial seizures of infancy, is a very rare and severe form of epilepsy that begins in the first six months of life. In this condition, seizures start in one area of the brain and then shift or "migrate" to different areas, sometimes even switching between the left and right sides of the brain. This migrating pattern is a hallmark feature of the disease and can be seen on an EEG (brain wave test). Babies with EIMFS typically develop normally at first but then begin having frequent seizures that are very difficult to control with standard anti-seizure medications. Over time, the seizures become nearly continuous in many cases. As the disease progresses, children usually experience significant developmental delays or regression, meaning they may lose skills they had already learned. Many children develop severe intellectual disability, low muscle tone, and problems with movement. The condition is caused by genetic mutations in several different genes, with KCNT1 being one of the most commonly involved. Other genes include SCN1A, SCN2A, SLC25A22, PLCB1, and TBC1D24, among others. Treatment is very challenging because the seizures tend to resist most anti-seizure medications. Some children may show partial improvement with quinidine (particularly in KCNT1-related cases), bromides, or other medications, but there is currently no cure. A ketogenic diet is sometimes tried as an additional approach. Care typically involves a team of specialists focused on managing seizures, supporting development, and improving quality of life.

Also known as:

Key symptoms:

Frequent seizures that move from one part of the brain to anotherSeizures that are very hard to control with medicationDevelopmental delay or loss of previously learned skillsSevere intellectual disabilityLow muscle tone (floppiness)Poor head controlDifficulty feeding or swallowingAbnormal eye movements during seizuresEpisodes of skin color changes (flushing or turning pale) during seizuresJerking or stiffening of arms or legsPeriods of nearly continuous seizure activitySmall head size (microcephaly) developing over timeLimited or absent speech developmentIrritability or excessive crying

Clinical phenotype terms (25)— hover any for plain English
Multifocal epileptiform dischargesHP:0010841Focal hemiclonic seizureHP:0006813Bilateral tonic-clonic seizure with focal onsetHP:0007334Focal emotional seizure with laughingHP:0010821Myoclonic seizureHP:0032794
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Epilepsy of infancy with migrating focal seizures.

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No actively recruiting trials found for Epilepsy of infancy with migrating focal seizures at this time.

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No specialists are currently listed for Epilepsy of infancy with migrating focal seizures.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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 Epilepsy of infancy with migrating focal seizures.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What genetic test results do we have, and how does the specific gene mutation affect treatment options?,What seizure medications or treatments do you recommend trying, and what are the possible side effects?,Would a ketogenic diet be appropriate for my child, and how would it be managed?,What is the emergency seizure plan, and which rescue medications should we have at home?,What developmental therapies (physical, occupational, speech) should we start, and how often?,Are there any clinical trials or new treatments being studied for this condition?,What support services are available for our family, including respite care and counseling?

Common questions about Epilepsy of infancy with migrating focal seizures

What is Epilepsy of infancy with migrating focal seizures?

Epilepsy of infancy with migrating focal seizures (EIMFS), also known as migrating partial seizures of infancy or malignant migrating partial seizures of infancy, is a very rare and severe form of epilepsy that begins in the first six months of life. In this condition, seizures start in one area of the brain and then shift or "migrate" to different areas, sometimes even switching between the left and right sides of the brain. This migrating pattern is a hallmark feature of the disease and can be seen on an EEG (brain wave test). Babies with EIMFS typically develop normally at first but then b

At what age does Epilepsy of infancy with migrating focal seizures typically begin?

Typical onset of Epilepsy of infancy with migrating focal seizures is neonatal. Age of onset can vary across affected individuals.