AES 2017 – Making Sense of Genetic Data in Epilepsy

Controversies. While you are packing your bags for the 71st Annual Meeting of the American Epilepsy Society in Washington, D.C., we wanted to point out one agenda item that may be of interest for you. The AES agenda typically has many parallel sessions, so I wanted to make a plug for our Genetics Special Interest Group (SIG) on Friday, 12/1 at 1:30PM. The topic of our SIG is going to be “Making Sense of Genetic Data in Epilepsy – Consensus and Controversy in 2017”. In contrast to regular sessions and lectures, a SIG is meant to stimulate discussion between SIG members. Therefore, in parallel to previous years, we would like to invite the attendees to use the opportunity to discuss challenging cases within a dedicated AES Special Interest Group.

Confocal microscopy of mouse cortex (modified under a CC licence from

The 2017 SIG. During the current SIG, we will have three speakers giving us a brief introduction to particularly challenging aspects of epilepsy genetics/precision medicine. Heather Mefford will discuss issues about novel genes and gene validity. Afterwards, we have invited Katie Helbig to talk about challenges in variant interpretation including the current issues surrounding the limitations of current guidelines and genetic literacy. Finally, Mark Fitzgerald will introduce challenging issues surrounding the implementation of genetic findings into clinical practice, including some of the more recent issues surrounding precision treatment with compounds such as quinidine. Again, this is not a lecture, but a Special Interest Group. It is THE place at AES to focus on the controversies surrounding these issues. There is a reason why we entitled the SIGs “Variant Fight Club” at past AES meetings.

Bring your own variant. If you would like to run challenging cases or scenarios relating to epilepsy genetics and precision medicine by us during the SIG, feel free to contact us in advance. We don’t need much information, a brief email to will do. Looking forward to seeing you on Friday! The room for the SIG is 102 B, Street Level in the Convention Center.


Ingo Helbig is a child neurologist and epilepsy genetics researcher working at the Children’s Hospital of Philadelphia (CHOP), USA.


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