Potential Breakthrough Treatment Discovered for Those with Autism and Epilepsy

Natalie Frank, Ph.D.

Many with autism also suffer from epilepsy and a new treatment could potentially target both

Many children who have autism also suffer from epilepsy. A new study published in Neuron discusses the discovery of a protein in the brain that appears to calm overactive brain cells. Children who suffer from epilepsy and autism have been found to have low levels of this protein in their brains.

Researchers at Northwestern Medicine have discovered a protein in the brain that serves to calm overactive brain cells found in children with both autism and epilepsy. Children with both disorders have abnormally low levels of this protein in their brains. According to these researchers 30 to 50 percent of children who are born with autism also have epilepsy.

The study was published in Neuron.

Because the protein can be identified in the cerebrospinal fluid, scientists believe it is a promising marker for diagnosing autism and possibly treating epilepsy when it coincides with the disorder. Being able to obtain samples of cerebrospinal fluid also makes it possible to detect when the gene is mutated. The levels of the protein found in the spinal fluid can be used to determine the levels in the brain.

This protein, called CNTNAP2, is produced when brain cells become hyperactive to quiet the cells. As children with autism and epilepsy don’t produce enough of this protein, their brains fail to calm down when the neuronal cells become over excited, leading to seizures.

The researchers who conducted this study hope that the findings will lead to new treatments for autism.

The director of the Center for Autism and Neurodevelopment at Northwestern University Feinberg School of Medicine and lead study author, Peter Penzes said, “We can replace CNTNAP2. We can make it in a test tube and should be able to inject it into children’s spinal fluid, which will go back into their brain.”

Penzes and his team are currently working on a technique to accomplish this goal in preclinical research.

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