Article

Mutations in ASH1L cause a neurodevelopmental disorder with sex differences in epilepsy and autism

2025-02-23

Abstract excerpt

<h4>Summary</h4> To understand brain phenotypes associated with ASH1L, we performed both studies in mouse models and clinical phenotyping of human subjects. We found in mice that ASH1L mutations result in seizures, microcephaly, and also less complex dendritic morphology. When we analyzed human subjects based for epilepsy, intellectual disability, and ASD, we found sex differences in epilepsy and autism, with epi...

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Literature Corpus work: 86394345-5315-5155-89c5-58e970569451
DOI: 10.1101/2025.02.21.639570

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