Epilepsy Gene Discovered
May 7, 2002 -- A large Canadian family carries a clue that may lead to new treatments for epilepsy.
Of the family's 14 members, eight have a common form of epilepsy: juvenile myoclonic epilepsy. All of the family members let a team from Montreal's McGill University study their DNA. Now the team, led by Guy A. Rouleau, MD, PhD, has found a mutant gene linked to the disease. They report their findings in the current issue of the journal Nature Genetics.
The gene is called GABRA1. What's exciting about this gene is that its DNA code translates into one of the receivers that picks up the chemical signals sent from one brain cell to another.
All of the members of the Canadian family that have epilepsy carry a mutant GABRA1 gene. Those who don't have epilepsy have the normal gene. When brain cells carrying the GABRA1 mutation are grown in a test tube, they aren't able to communicate with one another.
Earlier work by other researchers linked a rare, fever-induced form of epilepsy to a gene coding for another part of the same signal receiver. Taken together, the two findings point toward a similar cause for many different forms of epilepsy.
"Studies of [these mutant genes] ... will allow the design of specifically targeted drugs to treat this chronic and disabling disease," write Rouleau and colleagues.