NeurosciencebioRxivPreprint
Mutations in ASH1L cause a neurodevelopmental disorder with sex differences in epilepsy and autism
Carin M. Papendorp, Elizabeth Nolan, Haruki Higashimori…·Judy Shih-Hwa Liu
This study identifies ASH1L mutations causing a neurodevelopmental disorder with sex-specific effects on epilepsy and autism in mice and humans.