In a recent study, University of Montreal and University of Toronto researchers have identified eight new genes related to epileptic encephalopathy, a type of epilepsy that is combined with intellectual or overall developmental disability. The work was published last week in the American Journal of Human Genetics.
Jacques Michaud, a corresponding author of the study, and colleagues examined 200 children with epileptic encephalopathy and their parents to help develop anti-epileptic treatments. By using whole genome sequencing, the group was able to identify eight new genes involved in this type of epilepsy. In addition, they were also able to show that the main cause of this type of epilepsy were de novo mutations and not ones that were inherited from parents.
"We were able to identify the specific genetic change that led to epileptic encephalopathy in 32 per cent of our subjects, which is quite remarkable," said Michaud. "Mutations in epilepsy tend to affect specific areas of the gene, whereas mutations associated with intellectual disability are more often distributed throughout the entire gene. This pattern suggests that mutations in epilepsy impart specific properties to their corresponding proteins, which may then manifest as a decrease or increase in protein activity. In intellectual disability, mutations will simply deactivate the gene."
The researchers hope that this data will help with the development of personalized epilepsy treatments.
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