Gene to blame for infant epilepsy

U. MELBOURNE (AUS) — Scientists have identified the genetic cause of a rare seizure disorder that affects infants.

Benign familial infantile epilepsy (BFIE) has been recognized for some time as infantile seizures, without fever, that run in families but the cause eluded researchers before these findings from the University of Melbourne.

BFIE is a rare disorder that occurs in previously healthy infants who are developing normally. Seizures commence when a baby is about six months old and stop by the age of two years.


The researchers studied about 40 families from around the world. Some of the children with this gene abnormality also develop an unusual movement disorder later in childhood or adolescence called Paroxysmal Kinesigenic Choreoathetosis (PKC).

This movement disorder causes sudden, brief stiffening or twisting of their muscles as the person starts to move, for instance, people with this condition often have difficulty crossing the road when the traffic lights change to green. While this condition can be easily controlled by medication, it impacts on quality of life and may prevent people from participating in some activities.

As reported in the American Journal of Human Genetics, families with this condition carry a variation in a gene called PRRT2, which may cause the protein the gene encodes to form incorrectly.

The function of this gene is not yet known, nor is it understood how the changes in this gene cause an infant to have seizures.  This gene discovery provides valuable opportunities for learning more about brain function and what causes seizures.

Professor Ingrid Scheffer, a pediatric neurologist, says the finding could help families understand why their babies have seizures and will provide reassurance that the baby will grow out of the seizures and not have long-term problems.

The findings will also help with early diagnosis and appropriate treatment of the movement disorder, says Scheffer.

Additional collaborators contributed from the Florey Neurosciences Institute and the University of South Australia.

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