Fahmida A. Chowdhury1, Ruth L. O'Gorman2, Jonathan O' Muircheartaigh1, Mark P. Richardson1, Gareth J. Barker3
1Department of Clinical Neuroscience, Institute of Psychiatry, KCL, London, United Kingdom; 2Center for MR Research, University Children's Hospital, Zurich, Switzerland; 3Department of Neuroimaging, Institute of Psychiatry, KCL, London, United Kingdom
Idiopathic generalised epilepsies have a complex genetic inheritance pattern. Previous studies using quantitative MRI have shown reduced volume of subcortical nuclei in patients with idiopathic generalised epilepsy. In this study we report reduced volumes of thalamus and caudate in both patients with idiopathic generalised epilepsy and their first degree relatives using FIRST, an automated model based segmentation/ registration tool. This data supports that reduced subcortical volumes are heritable imaging endophenotypes for idiopathic generalised epilepsy. This adds to our understanding of the pathophysiology of epilepsy and has the potential to aid future genetic studies.
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