Autism gene affects brain function early in development

Mutations in a gene linked to intellectual disability and sometimes autism may lead to a permanent boost in brain activity beginning early in development, according to a study published 18 June in Neuron1.

The gene, called SYNGAP1, prevents connections that send activating signals in the brain from maturing too early during the first few weeks of fetal development. Mutations that inactivate one of two SYNGAP1 gene copies are a relatively common cause of intellectual disability but also frequently lead to epilepsy and, in about 30 percent of cases, autism.

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28th July 2014