Clinical Domain Working Groups
Epilepsy Gene Curation Expert PanelMembership Documents
The Epilepsy Gene Curation Expert Panel is focused on defining the genes in which pathogenic variants clearly cause epilepsy phenotypes. The gene-disease validity curation process includes 6 classification categories describing the level of evidence supporting a given gene-disease relationship: Definitive, Strong, Moderate, Limited, Disputed, Refuted.
Expert Panel Status - Approved Expert Panel
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.