Journal article

Tract-specific atrophy in focal epilepsy: Disease, genetics, or seizures?

David N Vaughan, David Raffelt, Evan Curwood, Meng-Han Tsai, Jacques-Donald Tournier, Alan Connelly, Graeme D Jackson



OBJECTIVE: To investigate whether genetics, underlying pathology, or repeated seizures contribute to atrophy in specific white matter tracts. METHODS: Medically refractory unilateral temporal lobe epilepsy (TLE) with hippocampal sclerosis (HS-TLE, n = 26) was studied as an archetype of focal epilepsy, using fixel-based analysis of diffusion-weighted imaging. A genetic effect was assessed in first-degree relatives of HS-TLE subjects who did not have epilepsy themselves (HS-1°Rel; n = 26). The role of disease process was uncovered by comparing HS-TLE to unilateral TLE with normal clinical magnetic resonance imaging (MRI-neg TLE; n = 26, matched for seizure severity). The effect of focal seizur..

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Awarded by National Health and Medical Research Council (NHMRC) of Australia

Awarded by NHMRC

Funding Acknowledgements

This study was supported by the National Health and Medical Research Council (NHMRC) of Australia (program grant 628952 and project grant 1081151), a computation grant from the Victorian Life Sciences Computation Initiative, and the Victorian Government Operational Infrastructure Support Program. D.N.V. was supported by an NHMRC Postgraduate Scholarship (1055877) and a Windermere Foundation Doctoral Scholarship. J.-D.T. acknowledges financial support from the UK Department of Health via the National Institute for Health Research Comprehensive Biomedical Research Centre award to Guy's and St Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London and King's College Hospital NHS Foundation Trust. G.D.J. is supported by an NHMRC practitioner fellowship (1060312).