Epilepsy-associated gene variants

Sodium channel proteins move sodium in and out of our cells. Some types of epilepsy have been linked to changes in genes for sodium channels. But changes in other genes may affect how severe a person’s disease is. The researchers leading this project have found one of these other genes in mice with a condition similar to epilepsy. They also found two different versions, or “variants,” of this gene in children with epilepsy. Using the DNA samples in BioVU, the researchers are searching for these variants in patients who do not have epilepsy. This will show whether this gene is truly involved in epilepsy in humans. The new information could also point to new treatments for the disease.