Rare autism-linked mutation starves growing neurons of essential nutrients
The mutation prevents certain amino acids from entering neurons, causing the cells to die early in development.
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
The mutation prevents certain amino acids from entering neurons, causing the cells to die early in development.
The changes may help explain the link between maternal infection and autism, though more research is needed.
People whose brains look like those of people who carry autism-linked copy number variants also share markers of heart health.
The approach improves the function of SYNGAP1-deficient neurons in vitro, but whether it will work in people remains unclear.
UBE3A, a key gene associated with both autism-linked conditions, can explain most — but not all — of the syndromes’ atypical neuronal properties.
The drug, welcomed by patients, might be just the first of many.
The most comprehensive study of neurodevelopmental conditions in Kenya and South Africa ever conducted shares preliminary results and lessons.
The proteins are part of a newly discovered complex that mends genetic damage exclusively in neurons.
The U.S. Food and Drug Administration plans to make an approval decision on the first-ever drug for girls and women with Rett syndrome by 12 March.
The OTUD7A gene, which may account for some traits in people missing a segment of chromosome 15, appears to interact with several known autism-linked genes.