New Autism Marker Discovered in Kids: Could Lead to New Treatment for Autism and Epilepsy

Why do so many children with autism often suffer from epilepsy? Northwestern Medicine scientists have discovered an important brain protein that quiets overactive brain cells and is at abnormally low levels in children with autism. This protein can be detected in the cerebrospinal fluid, making it a promising marker to diagnose autism and potentially treat the epilepsy that accompanies the disorder. Scientists knew when this gene is mutated, it causes autism combined with epilepsy. About 30% to 50% of children with autism also have epilepsy. Autism, which is 90% genetic, affects 1/58 children in the U.S. Appropriately nicknamed “catnap2,” the protein, CNTNAP2, is produced by the brain cells when they become overactive. Because the brains of children with autism and epilepsy don’t have enough of CNTNAP2, scientists found, their brains don’t calm down, which leads to seizures. Read More