For those who will be traveling to the Denver Summit in September, and also (or maybe especially) for those who will be with us in spirit, we wanted to introduce you to some of the experts who will be sharing their insights on KCNQ2-related epilepsy.
We begin this series with Dr. Sarah Weckhuysen, who was the first author on the first paper to describe KCNQ2 encephalopathy and who will be traveling the farthest to be with us!
Can you describe your background for us?
I am a neurologist/epileptologist, born and raised in little Belgium in Europe. After obtaining my Neurology degree, I worked for some years as an epileptologist in the tertiary epilepsy center Kempenhaeghe in the Netherlands. This work with often treatment resistant epilepsy patients fuelled my fascination for the underlying causes of (severe) epilepsies. In the last few years I therefore intensified my research activities at the Neurogenetics group of the University of Antwerp in Belgium, and obtained a PhD on the topic of genetics of epileptic encephalopathies. My research interests are focused on the delineation of epileptic syndromes, and the genetics of (early onset) epilepsies and febrile seizures. I’m also an active member and coordinator for the European consortium EuroEPINOMICS-RES, which focuses on the genetics of rare epilepsy syndromes.
How did you first get interested in studying epilepsy and the KCNQ2 mutation?
[dropcap]A:[/dropcap]In the Neurogenetics group we have been screening the gene KCNQ2 for several years in patients with the mild familial epilepsy syndrome “Benign Familial Neonatal Seizures.” In 2004 we discovered that de novo mutations in this gene (mutations only present in the patient, not in the parents) could also be found in patients with benign neonatal seizures without a family history of epilepsy. Since then we offered this genetic test to patients with neonatal seizures coming from around Europe. One of these patients in which we confirmed a de novo KCNQ2 mutation, subsequently appeared to have a more severe disease course than expected, and her development clearly appeared to be slower than normal. We wondered whether this was related to the KCNQ2 mutation or a pure coincidence, and we decided to further investigate this question. In collaboration with Ingrid Scheffer’s group from Australia, we collected a large group of children with neonatal seizures and subsequent developmental delay, and searched for KCNQ2 mutations in this group. We indeed found a de novo KCNQ2 mutation in 10% of these children. That’s how the disease entity KCNQ2 encephalopathy was first described.
[dropcap]Q:[/dropcap] What are the biggest challenges you face in your work?
[dropcap]A:[/dropcap] One of the biggest challenges for me, and I believe for all people working in epilepsy genetics now, is how to take our research one step further: During recent years our possibilities to identify new genetic causes for epilepsy have increased tremendously due to technological advances. More and more children with childhood epilepsy are offered a genetic diagnosis. We now have to think how we can translate this genetic knowledge into better patient treatment. Because at the end as a clinician, I not only want to provide a diagnosis to a patient, but also a cure.
[dropcap]Q:[/dropcap]What inspires or drives you as a researcher of genetic epilepsies?
[dropcap]A:[/dropcap]This strongly relates to the previous question. For me studying the genetic causes of epilepsy is a way towards a better understanding of the underlying causes and mechanisms in epilepsy. This is an important issue, as one third of the patients with epilepsy have treatment-resistant seizures, and thus do not respond well to currently available anti-epileptic drugs. Understanding what causes seizures in specific groups of patients is a starting point for the development of new and more specific treatment options for these patients. Although at this moment a genetic diagnosis rarely influences treatment choices in epilepsy, I do believe this is something we should aim for in the future.