Researchers have been hard at work to identify gene mutations linked to various types of epilepsy.
Epilepsy aphasia includes symptoms such as "seizures and speech abnormalities." A new study identified the specific gene mutation related to the condition, a University of Washington press release reported.
The researchers studied the gene sequence of 519 patients with seizure disorders, 44 of the subjects suffered from epilepsy aphasia.
"For a long time, people have debated whether this type of epilepsy had a genetic component, mostly because so few families have the disorder. To find a genetic cause is really interesting," Gemma Carvill, senior fellow at the UW Department of Pediatrics, Division of Genetic Medicine, and lead author of the study, said.
Another recent study used a technique called "exome sequencing" to identify non-inherited genome mutations in epileptic children whose parents did not suffer from a seizure disorder, Healthday reported.
"This moderately sized study identified an unusually large number of disease-causing mutations and provides a wealth of new information for the epilepsy research community to explore," study co-leader David Goldstein, director of the Human Genome Variation Center at Duke University Medical Center, said in a news release, Healthday reported.
Rare forms of epilepsy have been linked to genomes in the past, but finding genes associated with a wider range of the conditions has proven difficult.
The study looked at 264 children suffering from conditions such as infantile spasms and Lennox-Gastaut syndrome. They were able to identify 25 new mutations in six genes. Four of the genes had already been linked with epilepsy in past studies.
The researchers estimated up to 90 genes could be responsible for epileptic conditions, many of these mutations have also been linked to autism.
"It appears that a few pathways may be responsible for many severe pediatric epilepsies," Goldstein said. "If true, then understanding epilepsies will be more manageable and we can find common pathways to target with drugs and other therapies."
