Twins Prove Genetic Epilepsy Begins in the Embryo

Australian researchers carried out a study on identical twins, that proved that a very rare genetic form of epilepsy can be caused by a genetic mutation that happens in the embryo, and it is not necessarily inherited from one of the parents.

This is rather an exciting and innovating discovery, that reveals how a mutation within the embryo can cause genetic epilepsy, said Professor Berkovic, Director of the Comprehensive Epilepsy Program at Austin Health and Epilepsy Research Center at the University of Melbourne and lead investigator on the study.

It is true that this study focused on a rare form of epilepsy, said the Professor, but the findings “may have implications for those with other forms of genetic epilepsy, and in fact, other types of genetic disease.”

The study was carried out on a very limited group of people – individuals with an identical twin with a certain form of epilepsy, also known as Dravet's syndrome.

Still, the scientists believe that this research could have a bigger impact and larger implications for siblings of people with several genetic diseases that could be caused by genetic mutation in an embryo, rather than in the germ cells of the parents.

Previously, it was highly believed that new mutations for epilepsy and other disease normally happen in the parents' germ cells, but using identical twins shows clearly that this mutation came after the fertilization process.

The day that a test will be developed that will be able to tell if there has been or not a mutation in the germ cells of the parents, siblings of a child with a disease caused by a genetic mutation could stop being concerned that they could pass it on to their own children.

Professor Berkovic said that “this really shows the value of studying identical twins to make genetic discoveries that are otherwise effectively invisible to scientists when studying other members of the population.”

The research was led by the University of Melbourne and Austin Health and published in the New England Journal of Medicine.