New genetic risks for epilepsy discovered
Scientists have discovered two completely new genes, which, as it turned out, are associated with the most severe forms of childhood epilepsy, using innovative technologies.
Researchers note that the genetic research technique can be a highly effective method for making scientific discoveries in relation to such complex neurological diseases as epilepsy.
According to official data from the Centers for Disease Supervision, epilepsy affects more than two million Americans, with more than 300 thousand of them being children under the age of 15.
The latest study was part of the global Epi4k project, whose goal was to analyze the DNA of four thousand epilepsy patients and their families.
Researchers (DukeUniversity, National Institute of Health) have created a series of international research institutes that study epilepsy; such centers allowed scientists to conduct the necessary analysis of DNA sequences and information obtained from patients. As a rule, there is a tendency that epileptic patients suffer from repeated convulsions due to excessive neuronal activity.
DNA and clinical data were initially collected from specific projects of newly formed institutes. In total, among four thousand epileptic patients, 25 mutations were identified that caused this disease and located in both new and previously identified genes.
As the director of the Center for Genomic Variations, David Goldstein, who led the research, notes that now is the time to use the genomic approach to understand complex neurological disorders.
This study identified an unusually large number of mutations leading to the development of the disease, and provided enough new information for researchers of epilepsy.
Researchers have used exomic sequencing to identify mutations in DNA sequences that can cause two forms of childhood epilepsy: infant spasms and Lennox-Gastaut syndrome.
The exomic sequences of 364 epileptic children were compared with those parents who did not have a neurological disorder. The results found mutations in six genes, four of which were already discovered earlier, two were newcomers.