Several genes previously thought to be associated with only rare types of epilepsy seen in children are also involved in more common types of the condition, according to a study published in the scientific journal The Lancet Neurology.This finding suggests that therapeutic approaches, which target the precise genetic cause of epilepsy and which are used to tackle rare forms of the condition may also be helpful in treating its more common forms.”This is a very exciting breakthrough in the treatment of epilepsy, in which current treatment is based on whether a child has focal seizures, which begin in one area of the brain, or generalized seizures,” said Dr James Riviello, Chief of Child Neurology at Columbia University, New York, in a press release. “Genetic testing for epilepsy may allow us to identify the specific anticonvulsant medication that potentially works best for an individual patient. We have already identified children in whom knowing the underlying genetic basis of the epilepsy has guided our treatment choices.”The study involved the comparison of all protein coding genes from 1,140 people with one of two common types of epilepsy – genetic generalised epilepsy and non-acquired focal epilepsy – with those from 3,877 people without epilepsy.The researchers found that some people with non-acquired focal epilepsy had significantly more mutations in five specific genes that were previously thought to be associated with rare forms of the condition only. They estimated that these five genes contribute to epilepsy risk in approximately eight percent of people with this common form of the condition. A similar pattern was observed for genetic generalised epilepsy.According to the authors, as more genes associated with a wide range of epilepsies are identified, more treatments that are targeted to an individual’s genetic subtype can be developed. In the future, with more samples being analysed, the researchers are hoping to find additional genetic variations that contribute to common epilepsies.The research was coordinated by the Epi4K collaboration, an international consortium of doctors and scientists from around the world. The study was funded in part by Epilepsy Research UK and several UK researchers were involved, including Prof Mark Rees and Dr Graeme Sills, who are both trustees of Epilepsy Research UK.Author: Dr Özge ÖzkayaClick here for more articles about brain science including genetics.
January 18th, 2017|