TUBB3 and cerebral malformation: She was referred to our neurogenetics clinic at 3 years of age where repeat review of her MRI was suggestive of a tubulinopathy such that targeted testing for cortical brain malformation genes via NGS was performed (56 in panel; see Materials and Methods) and identified a heterozygous pathogenic c.533C>T (p.T178M) substitution in TUBB3. Parental testing was not completed.