Epilepsy Gene Curation Expert Panel


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 Status - Approved Expert Panel

Step 1
Step 2
Define Group
Complete
Expert Panel Approval
Complete

Leadership

Ingo Helbig, MD

Heather C. Mefford, MD, PhD


Coordinators

Please contact a coordinator if you have questions.

Erin Rooney Riggs, MS, CGC
eriggs@geisinger.edu

Carrie-Anne Barry, BS
cabarry1@geisinger.edu


Membership

23 members contribute to the Epilepsy Gene EP. All Members
What is GENE CURATION?

A systematic process of evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease.