CNTNAP2 and Intellectual disability: During the course of this study, we became aware of a second consanguineous family of Pakistani origin (Family 2) in which the two affected siblings were found to be also homozygous for the c.785G>A (p.Gly228Arg) variant in CNTNAP2. Clinical presentation in the two affected sisters in Family 2 showed striking overlap with the affected siblings from Family 1, with all four affected individuals exhibiting developmental delay, epilepsy, intellectual disability, and aggressive behaviors (Table 1).