ILAE genetics commission conference report: Molecular analysis of complex genetic epilepsies

Abstract

The epilepsies represent a classic example of genetic complexity, displaying reduced penetrance, etiologic and genetic heterogeneity, variable expressivity and pleiotropy, epistasis, and gene-environment interaction. New statistical tools, genomic analysis strategies, and candidate genes are now available. Workshop participants discussed the merits, feasibility, and possible strategies for large-scale collaborative efforts to analyze genetically complex epilepsies. Collaborative studies would provide the opportunity to expand available sample size beyond what has been possible in previous studies. Decisions about the optimal design and analytic approaches for such collaborative studies are d..