Statistics were performed for area measures (SPSS, version 19), with descriptive FA/tract-based maps reviewed and summarized by a radiologist blinded to group.
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FA maps were computed in FSL, with fiber tracking through the callosum performed in MedInria. Callosal data was first analyzed in MATLAB by cross-sectional division as per our previous work. Imaging included a high resolution MPRAGE (isotropic 1mm resolution, 160 slices) and DTI (64 direction, B-value 1000, FOV 224, slice thickness 2.2 mm, 55 slices). Subjects traveled to Seattle Children's Hospital where they were scanned on a Siemens 3T Trio scanner utilizing a 32-channel head coil. These subjects were compared to age-matched controls (31.50☑1.24, range 22-50). Methods: Four high-functioning PDE male subjects (mean±SD: 31.00☑0.89 years, range 22-47 years) were identified from known United States patients and consented for study. To address this knowledge gap, four high-functioning adults with PDE and controls were recruited and imaged with MRI to evaluate fractional anisotropy (FA). It remains unknown whether white matter structural features accompany these callosal changes. In past work, we examined the largest PDE sample studied to date (n=30), and demonstrated that reductions in callosal area are present across the developmental span, with no clear relation to treatment lag. With continuous pyridoxine treatment, most affected patients have complete seizure control, but neurodevelopmental sequelae are common. Rationale: Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive disorder that generally presents as a neonatal epileptic encephalopathy with pharmacoresistant seizures that come under control once daily pharmacologic pyridoxine supplements are administered.