Common genetic risk links autism, epilepsy

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Researchers observed decades ago that seizures and autism often run hand in hand. According to a 2013 study, in the U.S., epilepsy hits around 13 percent of children with autism between ages 2 and 17, but among teenagers with autism, that rate doubles to 26 percent—far higher than the 1 percent seen in the general population. What’s more, roughly half of children with autism show unusual spikes suggestive of epilepsy on an electroencephalogram (EEG), which monitors brain activity, yet they don’t actually have epilepsy.

At first, experts thought this abnormal activity might play a role in causing autism, says neurologist Roberto Tuchman of Nicklaus Children’s Hospital in Miami, Florida, but studies haven’t borne out that idea. Instead, the bulk of the evidence seems to support the notion that common processes underpin both epilepsy and autism—and probably intellectual disability as well.

The proof for this view is largely genetic: Studies analyzing the genetics of epilepsy and of autism have pinpointed some of the same culprits. Many of these DNA defects interrupt the normal function of synapses.


Read full, original post: The Genetic Link Between Autism and Epilepsy

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