DYNC1H1 and focal epilepsy: In a severely affected 13-month-old girl (E128) presenting with focal epilepsy since infancy, deafness, lack of eye contact, severe global developmental delay, and brain malformations including cortical heterotopia, pachygyria, and enlarged ventricles, a novel de novo variant in the DYNC1H1 gene was identified: c.10016G > A, p.(Arg3339His).