Epilepsy gene 'discovered'
The gene, called PRRT2, is said to be one of the key causes for benign familial infantile epilepsy.
Washington: Scientists have discovered a gene which they claim is responsible for causing epileptic seizures in some babies. Benign familial infantile epilepsy (BFIE) is known as infantile seizures that run in families.
Seizures commence when a baby is about six months old and stop by the age of two years. But what causes the rare form of epilepsy in previously healthy infants has so far eluded researchers.
Now, an international team, led by the University of Melbourne, says its findings have revealed that variation in the gene, called PRRT2, is one of the key causes for benign familial infantile epilepsy.
In their research, the scientists studied about 40 families from around the world. They found that families with BFIE carry a variation in PRRT2, which may cause the protein the gene encodes to form incorrectly.
However, 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, say the scientists who claim that this gene discovery provides valuable opportunities for learning more about brain function and what causes epileptic seizures.
BFIE, a rare 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, say scientists.
Prof Ingrid Scheffer, a team member, said the finding would help families understand why their baby has seizures and will provide reassurance that the baby will grow out of the seizures. "It'll also help with early diagnosis and treatment of the movement disorder," he added.