Twenty years ago doctors thought epilepsy was caused by injuries or tumours but, thanks to the work of a Melbourne paediatrician, we now know that there’s a large genetic factor.

Prof Ingrid Scheffer, a paediatric neurologist at the Florey Neuroscience Institutes and the University of Melbourne, has spent the last 20 years looking at the genetics of epilepsy, particularly in children.

We now know that genes play a large role and that’s opened the way to better diagnosis, treatment, counselling, and potential cures.

In particular, Ingrid’s team and her collaborators at the University of South Australia have discovered that one kind of inherited infant epilepsy is due to a single letter change in the genetic code.

Continue reading Understanding the genetic contribution to epilepsy →