Genetics Special Interest Group (SIG)

The Genetics Special Interest Group (SIG) focuses on genetically-mediated epilepsies with an interest in:

1. Identifying and characterizing patients with or without epilepsy who have known or potentially causative variants in genes associated with epilepsy
2. Examining patterns and yield of genetic testing
3. Facilitating multi-institutional collaborative studies into genetic epilepsy

Genetics SIG Leader: John Schreiber, M.D., Children’s National Medical Center

Our projects

PERC has created a genetic database to record known pathogenic variants and variants of unknown significance found through genetic testing. The specific aims are:

1. To build a platform for capturing specific clinical data elements to facilitate understanding of the natural history
2. Facilitate recruitment for future studies and clinical trials. The PERC Genetics Database went into production in March 2022 and is housed at Oregon Health Sciences University. This is detailed in a poster presentation at the American Epilepsy Society annual meeting in 2022.

Genetics SIG Leader: John Schreiber, M.D., Children’s National Medical Center

Member meetings

To join a Special Interest Group (SIG), please contact PERC’s Executive Director, Jane Zeender, at janeedperc@gmail.com. In order to join PERC, your institution must be a member, which currently involves the signing of a Memo of Understanding and a commitment from each member institution to actively participate in one or more SIGs. PERC’s Special Interest Groups typically meet via Zoom on a regular basis, in addition to meeting in person at national epilepsy conferences.