Figure 7.

Imaging and electroencephalography from individual 1 with the recurrent splice variant c.1197−8G>A (GenBank: NM_001288739.1)

(A and B) MRI showing markedly decreased cerebral volume, with deficiency of cerebral white matter.

(A) Coronal FLAIR. Slightly dysmorphic lateral ventricles are enlarged, with prominent frontal horns and mild prominence of the temporal horn.

(B) Sagittal T1. Small brainstem and small corpus callosum.

(C) Abnormal EEG from the same individual with poorly organized, diffusely slow background; nearly continuous focal slowing in the left occipital region; and multi-focal epileptiform discharges.