Benign partial infantile seizures

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ORPHA:166311
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Overview

Benign partial infantile seizures, also known as benign infantile epilepsy or benign infantile seizures, is a self-limited epilepsy syndrome that begins in infancy, typically between 3 and 20 months of age, with a peak onset around 5 to 6 months. This condition is characterized by recurrent focal (partial) seizures that may occur in clusters over one to several days. During seizures, infants may exhibit motor arrest, decreased responsiveness, staring, head and eye deviation, and limb jerking or stiffening, often with secondary generalization. Between seizure episodes, affected infants show normal neurological development and normal interictal electroencephalogram (EEG) findings. Brain imaging (MRI) is also typically normal. Benign partial infantile seizures can occur in both familial and sporadic forms. The familial form, sometimes referred to as benign familial infantile epilepsy (BFIE), follows an autosomal dominant inheritance pattern and has been linked to mutations in the PRRT2 gene (chromosome 16p11.2) in many families, as well as to other loci including SCN2A. The sporadic (non-familial) form presents with identical clinical features but without a clear family history of infantile seizures. The prognosis is excellent. Seizures typically respond well to antiseizure medications such as carbamazepine or valproate, and in many cases, treatment can be successfully discontinued after a period of seizure freedom. Seizures generally remit spontaneously by 2 to 3 years of age, and long-term neurodevelopmental outcomes are normal. This condition is important to distinguish from other more severe infantile epilepsy syndromes, as its benign course carries significant implications for counseling and management.

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 ↗

Treatments

No FDA-approved treatments are currently listed for Benign partial infantile seizures.

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No actively recruiting trials found for Benign partial infantile seizures at this time.

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No specialists are currently listed for Benign partial infantile seizures.

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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 Benign partial infantile seizures.

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Common questions about Benign partial infantile seizures

What is Benign partial infantile seizures?

Benign partial infantile seizures, also known as benign infantile epilepsy or benign infantile seizures, is a self-limited epilepsy syndrome that begins in infancy, typically between 3 and 20 months of age, with a peak onset around 5 to 6 months. This condition is characterized by recurrent focal (partial) seizures that may occur in clusters over one to several days. During seizures, infants may exhibit motor arrest, decreased responsiveness, staring, head and eye deviation, and limb jerking or stiffening, often with secondary generalization. Between seizure episodes, affected infants show nor

At what age does Benign partial infantile seizures typically begin?

Typical onset of Benign partial infantile seizures is infantile. Age of onset can vary across affected individuals.