In honor of Dravet Syndrome Awareness Month we wanted to highlight the important advances being made in testing genes in the area of epilepsy.
About Dr. Helbig
Ingo Helbig, MD, is an epilepsy genetics researcher, the Director of Clinical Research at ENDD, an attending Pediatric Neurologist in the Division of Neurology and the Director of Genomic Science at Children’s Hospital of Philadelphia (CHOP), and an Assistant Professor of Neurology at the Perelman School of Medicine, University of Pennsylvania. He is member of the Genetics Commission of the International League Against Epilepsy (ILAE). He is blogging about epilepsy and genes on Beyond the Ion Channel.
Why genetics?
Many types of epilepsies have a genetic contribution, and a community of clinicians, researchers, and families is heavily involved in identifying epilepsy-causing genes. Why? Dr. Helbig has tried to condense the five most important points into this article.
Things are changing fast in Genetic Science
Clinicians and researchers in the field of epilepsy are confronted with an ever-changing landscape of gene discovery. Epilepsies that were thought to be unexplained only two years ago now have a name and a gene attached to them. Dr. Helbig shares that he has met many people with epilepsy in the past who felt that genetics could not do anything for them and that their epilepsy was anything but genetic. However, as far as we know, genetic factors probably play a big role in why they have developed seizures and we might even know about specific genes that we could test for. It’s not clear if a genetics test will have answers for you, but Dr. Helbig encourages us to ask.
Here is what we know
Today, we believe that most epilepsies without an obvious lesion or cause have a strong genetic component. This is true not only for severe epilepsies of childhood (the focus of my research), but also for many of the common epilepsies, up to the point that the community has renamed an entire group of common epilepsies from “Idiopathic Generalized Epilepsies” to “Genetic Generalized Epilepsies”. In 2015, we know more than 50 genes for human epilepsies and can probably explain 20-30% of severe epilepsies in children through genetic changes – if we test for them.
Why look for genes?
In some cases, finding a genetic cause makes a significant contribution to how we treat the epilepsy. For example, we know that in patients with a genetic change in a protein involved in glucose transport into the brain, the ketogenic diet can be a treatment. In patients with a genetic epilepsy called Dravet Syndrome, we know that we should avoid a common antiepileptic medication (lamotrigine).
Also, we have learned that severe skin reactions to the antiepileptic drug carbamazepine is tightly linked to a few specific genetic markers. However, we always point out that treatment changes based on genetic findings are still very rare. It is currently a major focus in the field to be able to use a patient’s genetic information to tailor treatment, a field called precision medicine. We hope that future research will help us explain why some people have epilepsy, to predict the course of the disease and the response to treatment, and to understand the underlying mechanisms to help develop new strategies for treatment.
Don’t fear your genes
It is our experience that many people have a biased view towards genetics and that mentioning genetic causes of one’s disease is often fear-provoking. Throughout history, people with epilepsy have been stigmatized and accordingly, people were scared that these diseases may run in the family. This fear is still true today. Many people with epilepsy view a genetic contribution to their disease negatively and make decisions based on this. We have found in some of our research that people with epilepsy decide against having children because they fear that their disease may be inherited. We see genetics as a tool to empower people with epilepsy and their families. Knowing the cause of your epilepsy offers closure and helps connect families who are in a similar situation. Some examples include the Dravet Syndrome Foundation, the International Foundation for CDKL5 Research, and the SCN2A Family Foundation. Gene findings can really lead to empowerment.
You may be asking one day
The question about genetics, inheritance, and risk tends to come up at some point. This often happens unexpectedly when starting a family, when relatives have children, or when people with epilepsy hear about new findings in the media. Dr. Helbig’s advice: if you are in such a situation, please ask. There are highly qualified professionals out there who are able to counsel you and tell you about risk and if genetic testing may make sense for you.
For more on epilepsy and genes
You can find more information about epilepsy and genes on the following websites
Citizens United for Research in Epilepsy (CURE)
You can also follow Dr. Helbig’s blog, Beyond the Ion Channel. His blog is primarily targeted at clinicians and researchers, but they have found that many people with epilepsy and their families read our posts to stay informed about what is happening in epilepsy genetics.
James Patterson
That is great to hear! I would love to read up more on the recent research found with epilepsy in genetics.