Figure 1.

Two Families Affected by Epileptic Encephalopathy Featuring Cerebral Calcification and Coarse Facial Features

(A and B) Pedigrees of family 1 (A) and family 2 (B).

(C–E) Photographs of affected individuals II-6 (C) and II-7 (D) of family 1 and II-4 (E) of family 2. Note the common coarse facial features, including nasal prominence and frontal bossing.

(F–H) CT scans of the same individuals as above. Note the generalized atrophy and calcification (white spots) of the basal ganglia (F, II-6; G, II-7) and periventricular cortex (H).

(I) Schematic overview of the structure of DENND5A, which contains DENN, RUN, and PLAT domains. The positions of the identified truncating variants are indicated.