CNTNAP2 and Cortical dysplasia - focal epilepsy syndrome: In patients harboring biallelic variants in CNTNAP2, brain MRI may be normal, such as in our case, or show cortical dysplasia (cortical dysplasia-focal epilepsy syndrome, CDFES).1–3 Additional findings include cerebellar abnormalities (vermian hypoplasia or atrophy) and nonspecific white matter abnormalities.1,2