Averi James and Nicole Teitel


Nature of the Genetic Difficulty

Benign familial infantile epilepsy (BFIE) is generally caused by a genetic mutation resulting in the addition of a code to what is normally a 12-code sequence on chromosome 16. This gene is known as PRRT2,and encodes proline-rich transmembrane protein 2. Mutations to this gene often result in movement disorders as it does with this specific disease. Benign infantile epilepsy is an inherited autosomal dominant form of epilepsy and so a single copy of the gene can cause the disorder, however, in some cases even those carrying this gene do not show symptoms of the disease.
It has also been suggested that genetic mutations, observed on other chromosomes may cause this disorder. It has been hypothesized that certain mutations observed on chromosome 19 can cause BFIE but it is currently asserted that the mutation present on chromosome 16 is the major underlying cause. This is supported by the fact that over 80% of patients suffering from seizure in infancy have this genetic mutation.


Basic Facts of Disease

Benign Familial Infantile Epilepsy is a fairly rare disorder and is generally well controlled with antiepileptic drugs. This disease is characterized by full and partial seizures which may manifest as uncontrollabled convulsions or less violent motions such as rocking from side to side or prolonged staring.
Symptoms of this disorder generally appear when an affected child is between 3 and 6 months of age but tend to resolve naturally by age two.


Seizures usually resolve after 13 months though some have symptoms for up to two years. This condition is well treated with anti seizure medications, but if it is not medicated the baby usually will have around 3 complex partial seizures a day. Complex partial seizures effects the infant's consciousness, leaving it repeating actions or having blank stares. This disease goes unnoticed in most of the infants who have it.
Although those who have benign familial infantile epilepsy are slightly more prone to developing movement disorders later is life, the majority of those afflictedare unaffected past their second birthdays. This disorder resolves on its own and has no lasting health repurcussions.

Sources Cited