Benign familial infantile epilepsy

Benign Familial Infantile Epilepsy (BFIE) is a rare genetic disorder characterized by the onset of seizures in infancy. The condition is considered benign because most children outgrow the seizures by the age of 2 years. The term familial indicates that the condition often runs in families.

Symptoms

The primary symptom of BFIE is recurrent seizures that begin between the ages of 3 and 12 months. These seizures are often characterized by sudden jerking movements or spasms. Other symptoms may include febrile seizures, which are seizures triggered by a high fever, and developmental delay, although this is less common.

Causes

BFIE is caused by mutations in the PRRT2 gene. This gene provides instructions for making a protein that is involved in the function of nerve cells, particularly in the transmission of signals. Mutations in the PRRT2 gene disrupt this function, leading to the symptoms of BFIE.

Diagnosis

Diagnosis of BFIE is based on the characteristic symptoms, particularly the onset of seizures in infancy and a family history of the condition. Genetic testing can confirm a diagnosis by identifying a mutation in the PRRT2 gene.

Treatment

Treatment for BFIE primarily involves managing the seizures. This may include the use of anti-seizure medications, such as carbamazepine or phenobarbital. In most cases, treatment can be discontinued once the child outgrows the seizures.

Prognosis

The prognosis for individuals with BFIE is generally good. Most children outgrow the seizures by the age of 2 years and go on to develop normally. However, some individuals may continue to experience seizures into adulthood, and a small number may have developmental delay or learning difficulties.

See also

• Epilepsy
• Genetic disorder
• Seizure