Abstracts

Rationale: The experience of the research community to date has shown that endophenotypes are required to augment the power of genetic mapping studies in complex forms of epilepsy. We are applying in-vivo quantitative magnetic resonance imaging (QMRI) to identify subtle structural variations in the brain that are both heritable and involved in the development of temporal lobe epilepsy Methods: Our study design involves acquiring brain MRI scans on index patients with temporal lobe epilepsy together with an unaffected same gender sibling and healthy controls. MRI scans were processed using a fully automated brain reconstruction tool (FreeSurfer). We have applied numerous sets of analysis across these three groups to identify brain structures showing characteristics of good endophenotypes - heritable, associated with the disease and measureable in healthy siblings. Results: Results to date have highlighted several structures as candidate endophenotypes including the thalamus and anterior cingulate cortex Conclusions: The novel endophenotypes identified in this study are being measured in a larger cohort of temporal lobe epilepsy patients for whom whole genome association data is already available.