PMC5787533_01
Ictal electroencephalogram (EEG) and pedigree of the family. (A) Ictal EEG with left frontocentral origination (arrow). A1-A3 show EEG evolution. A4 shows epilepsia partialis continua of the right lower limb without visible EEG change. (B) Pedigree of the family. The black square/circle indicates patients with the epilepsy phenotype; the double horizontal lines denote consanguineous marriage; the arrow shows the proband.
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F1
The activity quickly spread to the contralateral side with increased amplitude (Figure 1A). TBC1D24 gene, c.229_240del (p.82_84del). The homozygous mutation was inherited from her healthy parents who were heterozygous, which was consistent with autosomal recessive inheritance (Figure 1B and Supplementary Figure S1).
Morphometric analysis program (MAP) result. The crosshairs indicate the location of the MAP+ candidate. First row
(A): T1-weighted magnetization prepared rapid acquisition with gradient echo images. Second row
(B): gray-white matter junction z-score file, as the output of MAP processing of the T1-weighted image shown in the first row. Third row
(C): T2-weighted fluid-attenuated inversion recovery images, chosen to best depict the MAP+ candidate. This was the best available image due to sub-optimal slice selection. There are no corresponding T2 changes.
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F2
The highlighted region might correlate with gray-white blurring on the underlying MRI. The MAP analysis identified a subtle abnormality candidate with a z-score over 4, a subtle gray-white blurring in the left medial parietal region (Figure 2).