David Raffelt1, Farnoosh Sadeghian1, Brigid Regan2, Sarah Garry2, Samuel Berkovic2, Ingrid Scheffer2, and Alan Connelly1,2
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.