Neurology Central

Could novel epileptic encephalopathy genes promote advances in treatment strategy?

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A study at the University of Montreal (Quebec, Canada) has examined 200 children with epileptic encephalopathy and their parents. Utilizing whole-genome sequencing, a technique never before used in epileptic studies of this scale, the team discovered eight novel genes involved in the epilepsy type. The study was published in the American Journal of Human Genetics.

Approximately 30% of children do not respond to anti-epileptic drugs, leaving neurologists without a clear way to approach treatment. Often the only option is to attempt to find a working combination through trial and error. This already arduous task is compounded by variable mutations from child to child, creating epilepsy symptoms which do not clearly reflect their cause. 

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