Mutations in both copies of a gene called ACTL6B lead to autism, epilepsy and intellectual disability.
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
A trove of DNA sequences from 141,456 people — and counting — offers an unparalleled look at genetic variation.
Brothers and sisters of people with autism are both about two to three times more likely than the general population to have an autistic child themselves.
Correcting an autism gene mutation in fetal mice lessens some autism-like behaviors after birth.
A new study highlights the challenge of distinguishing genetic variants linked to autism from those associated with cognitive development.
The relative contributions of genetic and environmental factors to autism have held steady over multiple decades, according to a large twin study.
Many genes in a brain region implicated in autism change expression patterns in late fetal development, depending on differences in neighboring DNA.
Mice missing DLG2, a protein central to neuronal activity, are anxious, sleep poorly and overgroom themselves.
A comprehensive atlas of gene expression by brain region could spur new research on autism.