Benign partial epilepsy of infancy with complex partial seizures

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ORPHA:166299
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Overview

Benign partial epilepsy of infancy with complex partial seizures is a rare epilepsy syndrome that occurs in otherwise healthy infants, typically between the ages of 3 and 20 months. This condition is a subtype of benign infantile epilepsy (also known as benign infantile seizures) and is characterized by complex partial seizures, which involve altered awareness or consciousness during the episode. During a seizure, infants may display behavioral arrest, staring, automatisms (such as lip smacking or repetitive hand movements), cyanosis, and sometimes secondary generalization with tonic-clonic movements. The seizures may occur in clusters over a period of days. The neurological system is the primary body system affected. Importantly, interictal electroencephalography (EEG) is typically normal, and brain imaging (MRI) does not reveal structural abnormalities. Psychomotor development remains normal before, during, and after the seizure episodes, which is a hallmark of the benign nature of this condition. The prognosis is excellent, as seizures generally resolve spontaneously, usually before the age of 2 to 3 years. Treatment may not always be necessary given the self-limiting nature of the condition. When seizures are frequent or occur in clusters, antiepileptic medications such as carbamazepine or valproate may be used and are generally effective in controlling seizures. A family history of benign infantile seizures may be present in some cases, suggesting a genetic predisposition. Genetic studies have identified associations with mutations in the PRRT2 gene and sodium channel genes in some familial forms. The key clinical challenge is distinguishing this benign condition from more serious epilepsy syndromes of infancy, which requires careful clinical evaluation and follow-up.

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 epilepsy of infancy with complex partial seizures.

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No specialists are currently listed for Benign partial epilepsy of infancy with complex partial 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

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Common questions about Benign partial epilepsy of infancy with complex partial seizures

What is Benign partial epilepsy of infancy with complex partial seizures?

Benign partial epilepsy of infancy with complex partial seizures is a rare epilepsy syndrome that occurs in otherwise healthy infants, typically between the ages of 3 and 20 months. This condition is a subtype of benign infantile epilepsy (also known as benign infantile seizures) and is characterized by complex partial seizures, which involve altered awareness or consciousness during the episode. During a seizure, infants may display behavioral arrest, staring, automatisms (such as lip smacking or repetitive hand movements), cyanosis, and sometimes secondary generalization with tonic-clonic mo

At what age does Benign partial epilepsy of infancy with complex partial seizures typically begin?

Typical onset of Benign partial epilepsy of infancy with complex partial seizures is infantile. Age of onset can vary across affected individuals.