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 difficult, and consensus has not yet been reached. Practical issues to be resolved by the members of future consortia include the selection of phenotypes for initial analysis, development of methods to standardize clinical diagnosis and classification, adherence to basic principles of informed consent and privacy protections, mechanisms for DNA banking and transfer across international borders, and data-sharing agreements. The ILAE Genetics Commission will continue to explore these issues as the technology for gene discovery of complex diseases develops.
ASJC Scopus subject areas
- Clinical Neurology