Reassessing the pathogenicity of lesion-associated gene variants in human epilepsies

Takeaway 

  • Many previously identified gene variants from epileptic lesions which were assessed as being pathogenic do not have enough evidence to be classified as such using current guidelines. 

Why this matters

    There is insufficient evidence to interpret the pathogenicity of many neuropathology-associated variants in epilepsy, and thus, consensus standards for variant assessment and larger scale research projects are needed in order to improve clinical decision making.