Mutations in ASH1L cause a neurodevelopmental disorder with sex differences in epilepsy and autism
Carin M. Papendorp, Elizabeth Nolan, Haruki Higashimori, Megha Jhanji, Luis Goicouria, Cosmo A. Pieplow, Kirsten Whitley, Steven Defreitas, Jennifer Elacio, Duyu A. Nie, Brian C. Kavanaugh, Carrie R. Best, Sofia B. Lizarraga, 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.
bioRxiv · Feb 21, 2025 · PreprintNeuroscience