Developments in Molecular Genetic Diagnostics: An Update for the Pediatric Epilepsy Specialist

The contributions of genetic influences in both rare and common epilepsies are rapidly being elucidated, and neurologists routinely consider genetic testing in the workup of numerous epilepsy syndromes. Trends in patient attitudes and developments in clinical molecular diagnostics will increase interest in, and the availability of genetic tests for, genetic evaluations of epilepsies. We review recent and planned developments in clinical genetic testing platforms, including their indications, strengths, and limitations. We discuss genome-wide microarray methods (i.e., methods to detect copy number variations), karyotypes, and sequence-based testing. We outline the general approach to genetic evaluations of epilepsy, emphasizing the importance of clinical evaluations, and provide online clinical resources. Finally, we present potential social, legal, and financial barriers to genetic evaluations, and discuss concerns regarding clinical utility and recurrence risk. This review provides a practical overview of molecular diagnostics for the neurologist in the genetic evaluation of epilepsies in 2011.