Epigenetic mechanisms beyond imprinting are widespread in the mammalian brain Christopher Gregg and colleagues demonstrate that diverse epigenetic mechanisms affect allele-specific gene expression in the mammalian brain.
SCN2A variants result in opposite effects on sodium channel function in autism and infantile seizures Kevin Bender and Stephan Sanders show that ASD-associated SCN2A variants lead to impaired NaV1.2 channel activity and reduced neuronal excitability.
Identification of an amygdala circuit involved in social learning Amiel Rosenkranz and colleagues have identified a specific intra-amygdala circuit, from the lateral nucleus to the medial nucleus, which is critical for social learning.
Gene-gene interactions contribute to autism Lauren Weiss and colleagues used a reverse pathway genetic approach, focused on the RAS/MAPK pathway, to show that gene-gene interactions contribute to autism.
A potentially treatable form of autism caused by impaired brain transport of amino acids Gaia Novarino and Joseph Gleeson find impaired amino acid transport into brain causes ASD-like symptoms in mice, and uncover transport mutations in individuals with ASD.
Genetic mechanisms underlying physical trait differences between males and females contribute to sex bias in autism By examining SNPs from ASD datasets, Lauren Weiss finds that genetic mechanisms regulating general sex differences, such as height and weight, contribute to autism risk.
Sequencing study in a Chinese cohort confirms the importance of de novo mutations in autism By assessing a Chinese autism cohort, Evan Eicher establishes the importance of de novo mutations for conferring autism risk in both European and Chinese populations.
Predicting autism treatment outcome with imaging biomarkers Suitable biomarkers are needed to assess treatment outcomes in ASD. Pamela Ventola has developed fMRI biomarkers that allow accurate prediction of intervention success.