Home > News & Opinion > In Brief > 2013 > Genetics: Autism, epilepsy cases share mutations

Genetics: Autism, epilepsy cases share mutations

Popularity tracker
Jessica Wright
15 October 2013

Enlarge image >>

Brain hub: Many of the genes mutated in children with epilepsy interact in an interconnected network.

Mutations in GABRB3, a brain receptor linked to autism, are prevalent in severe childhood epilepsy, according to a study published 12 September in Nature1.

The study also found that many of the spontaneous, or de novo, mutations found in children with epilepsy overlap with those linked to autism and fragile X syndrome.

About one-third of people with autism suffer from epilepsy. This overlap suggests that the two disorders may have a common origin — a theory borne out by examples of shared genetics.

Studies suggest that, biologically, autism is the result of an imbalance between excitatory and inhibitory brain signals, which may also underlie epilepsy.

In the new study, researchers sequenced the protein-coding DNA, or exomes, of 264 children who suffer from either infantile spasms or Lennox-Gastaut syndrome, and their parents. Both disorders are characterized by multiple seizures during sleep, which may lead to cognitive problems.

The researchers found multiple mutations in nine genes in the children with epilepsy that are not present in their parents. In particular, four children have a mutation in GABRB3, a receptor that transmits calming signals to neurons. None of 610 controls or their parents have a mutation in this gene.

A 2009 study found a rare variant of GABRB3 that affects neuronal signaling in 17 of 1,152 families with autism and 1 of 292 controls2

Overall, the researchers found 277 mutations in the exomes of children with epilepsy that are not present in their parents. Of these, 41 are also seen in children with autism and 64 may be regulated by FMRP, the protein missing in fragile X syndrome.

News and Opinion articles on SFARI.org are editorially independent of the Simons Foundation.


1: Epi4K Consortium et al. Nature 501, 217-221 (2013) PubMed

2: Delahanty R.J. et al. Mol. Psychiatry 16, 86-96 (2011) PubMed


Name: Danielle Thraves
16 October 2013 - 10:01PM

I believe I suffer autism and epilepsy I have suffered with epilepsy sense I was seven years old 30 now and not one doctor believes me they just say it's because I am epilepsy and because I have depression but I tell telling them I suffer with that only because of my childhood as I was put in care as mother mother don't believe I suffered from epilepsy just autism

Add a Comment

You can add a comment by filling out the form below. Plain text formatting.

Question: What is 10 + 4 ?
Your answer: