PMC7475752_01
Pedigree of the family.
CRINM2020-7219514.001.jpg
PMC7475752_01_CRINM2020-7219514.001.jpg
fig1
Cognition remained normal.  Figure 1 details the family history. Testing demonstrated the identical variant in the affected cousin, but not the unaffected sister (see pedigree:Figure 1), supporting the hypothesis that this novel variant is pathogenic, though functional expression studies were not done.