Biomarkers and Endophenotypes in Juvenile Myoclonic Epilepsy

Juvenile Myoclonic Epilepsy (JME) is a common type of epilepsy arising in young people with a complex genetic inheritance. One strategy for improving the power to detect susceptibility genes is to utilise endophenotypes for genetic analysis. Endophenotypes are closer to the biology of the disease and are less subject to misclassification than the overall clinical phenotype. Moreover, quantitative phenotypes offer the opportunity to detect quantitative trait loci (QTLs). In comparison, there are very few biomarkers in human epilepsy- characteristics that indicate normal biological or pathogenic processes - and these may provide tools for improved diagnosis, prognosis and prediction of treatment response.

The primary research questions are (a) whether biophysical parameters of the electroencephalograph (EEG) or neuropsychological measures meet the criteria for endophenotypes in JME and (b) whether baseline measures or changes in these EEG parameters have clinical utility as biomarkers. We will test the hypothesis that shift in alpha power spectrum reflects an accurate predictive biomarker of response to treatment in JME.