MACF1 and spastic cerebral palsy: In 2020, Bölsterli et al. reported a pathogenic de novo MACF1 variant [c.15682G>T p.(Asp5228Tyr)], during a review of an unsolved brainstem malformation, in a girl who had treatment-resistant epilepsy, spastic cerebral palsy and severe speech and cognitive impairment [9].