Figure 1.
Differential characteristics of subjects with duplications or deletions/intragenic mutations of FOXG1 on 14q12. Infantile spasms with hypsarrhythmia (A) has been commonly described with duplications. Children with smaller 14q12 duplications are non-dysmorphic, and have autistic features (B). MRI in duplications of 14q12 show a normal gyral pattern and intact corpus callosum (C), while children with deletions/intragenic mutations of FOXG1 have hypoplasia of the corpus callosum (D), foreshortened frontal lobes with gyral simplification, postnatal microcephaly, and multiple neurodevelopmental disabilities (E).