Abstract #0777

Decreased Fibre Density in Frontal Lobe Epilepsies related to DEPDC5 mutations

David Raffelt¹, Farnoosh Sadeghian¹, Brigid Regan², Sarah Garry², Samuel Berkovic², Ingrid Scheffer², and Alan Connelly^1,2

¹Florey Institute of Neuroscience, Melbourne, Australia, ²Department of Medicine, University of Melbourne, Melbourne, Australia

Mutations in the gene DEPDC5 cause up to 12% of Familial Focal Epilepsy with Variable Foci. In this work we performed a fixel-based analysis of diffusion MRI data to understand how white matter might be altered in patients with DEPDC5 mediated frontal lobe epilepsy (FLE). We identified significant reductions in fibre density in several pathways, including the superior longitudinal fasciculi, corpus callosum, inferior longitudinal fasciculus and cingulum. We also investigated FLE mediated by KCNT1 mutation, and found similar pathways affected. In KCNT1+ve subjects, pathways had reduced cross-section, suggesting the observed effects may be related to development and not seizure effects.

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