Areas of uncertainty – an unusual introduction to 2016

Happy 2016. Talking about things we don’t know or are not sure about may be a strange introduction to a new year that is full of promises for the field of epilepsy genetics. However, there were two questions during the holidays that carried over from 2015 into the new year that I didn’t know the answer to and that we repeatedly discussed in our group. Two relatively simple questions: Can we give lamotrigine to a patient with GEFS+ -not Dravet Syndrome– and a mutation in SCN1A? Should we withhold valproic acid from a patient with a single POLG mutation identified through diagnostic gene panel? You feel that you know the answer to these questions, but what is actual data and what is only inference? Follow me through a brief discussion on why we need to be careful when it comes to claiming knowledge that we don’t really have yet. Continue reading

The three challenges of epilepsy precision medicine

Half Moon Bay. I am on my way back from the Precision Medicine Workshop at Half Moon Bay, realizing again that blog posts from scientific meetings are often boring and difficult to write. However, let me try to put together a few thoughts about this meeting. Basically, there are three challenges for epilepsy genetics in the era of precision medicine. Continue reading

Precision medicine in genetic epilepsies – three criteria to consider

Three criteria. You hear the phrase precision medicine quite frequently these days and might wonder what this is all about. In a nutshell, in the context of genetic epilepsies, the basic idea behind precision medicine is to use genetic patient information for treatment decisions. The broader vision behind this aims at improving the lives of individuals with epilepsy by making smarter and faster treatment decisions, which lead to better treatment response and fewer side effects. But how should we assess information on reports of precision medicine in the literature? Here are the three important criteria to assess. Continue reading