Article Figures & Data
Figures
- Figure 1 Epileptic spasm and intracranial grid location
(A) Ictal recording of typical epileptic spasms. The spikes and high-frequency activity at ictal onset were broadly distributed in the mesial temporal, frontotemporal, inferior parietal, and occipital contacts (sensitivity: 75 uV, low-frequency filter: 5.3 Hz; high-frequency filter: 500 Hz). (B) Placement of the grid and strips (blue) over the left frontal, temporal, parietal, and occipital lobes. (C) Predominant ictal onset (red) and rapid propagation (orange) over a broad region. (D) Location of the tissue samples and spike quantification. FT = frontotemporal; MT = mesial temporal; Occ = occipital.
- Figure 2 Neuroimaging, EEG, and histopathology of differentially affected hippocampus and parietal/occipital lobe
(A) Hippocampus: T2-weighted coronal MRI of the brain demonstrates increased signal within the left temporal white matter with circling of the asymmetric gray-white matter blurring on the left temporal lobe (top left). FDG-PET fused with MRI demonstrates focal area of asymmetrically decreased uptake within the left temporal lobe and hippocampus area; arrows point to the left temporal lobe and left hippocampal region (top right). Intracranial EEG demonstrates high-amplitude spikes (asterisks) abundantly in the hippocampus contacts (bottom left). Histology image at 100×; H&E-stained section from hippocampus shows expected cytoarchitecture (bottom right). (B) Parietal/occipital lobe: T1-weighted coronal MRI of the brain demonstrates no focal abnormality in the left parietal lobe (top left). FDG-PET fused with MRI demonstrates focal area of asymmetrically decreased uptake within the left parietal lobe; arrows point to the left parietal lobe (top right). Intracranial EEG demonstrates high-amplitude spikes (asterisks) only occasionally in the occipital contacts (bottom left). Histology image at 40×; H&E-stained section shows cortical dyslamination with neurons of the occipital neocortex arranged in microcolumns (arrowheads). FDG = fluorodeoxyglucose; H&E = hematoxylin and eosin.
- Figure 3 SLC35A2 c.634_635delTC VAFs among different sequencing methods
(A) Comparison of SLC35A2 c.634_635delTC VAFs in 6 brain tissues and blood comparator from the affected patient, using 3 different sequencing techniques. Average sequencing depth at the SLC35A2 variant position for each method is shown in parentheses in legend. The apparent presence of the variant at <1% VAF in the blood sample for the libricon approach is likely due to the high error rate of this PCR-based approach and the high read depth achieved during sequencing. (B) VAFs in 12 brain and 1 matched blood tissue using the NND SLC35A2 targeted sequencing kit. (C) Comparison of VAFs in DNA and RNA from 6 different brain tissues using the NND SLC35A2 targeted sequencing kit. Only nucleic acids from high-quality, frozen tissue samples were used for targeted RNA sequencing. Average sequencing depth for each method is shown in parentheses in legends. NND = NEBNext Direct; VAF = variant allele fraction.
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