Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.
Lisa-Marie NiestrojJuanjiangmeng DuMichael NothnagelPatrick MayAarno PalotieMark J DalyPeter NürnbergIngmar BluemckeDennis LalPublished in: Epilepsia (2018)
We concluded that the majority of neuropathology-associated variants reported to date do not have enough evidence to be classified as pathogenic. Interpretation of lesion-associated variants remains challenging, and application of current ACMG guidelines is recommended for interpretation and prediction.