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Researchers discover common genetics in autism and epilepsy

Below is a story that was originally produced for the Journal of Human Molecular Genetics (May 2011). The research is so groundbreaking that the story has already been picked up by Science Daily, The Toronto Sun, The Ottowa Sun, A Health Blog, BioQuick News, PhysOrg and is spreading across the globe swiftly.

What’s the story?
Led by the neurologist Dr. Patrick Cossette, the research team at Département de Médecine, Université de Montréal, CHUM-Hôpital Notre-Dame found a severe mutation of the synapsin gene (SYN1) in each member of a large French-Canadian family suffering from epilepsy, including individuals also suffering from autism. This study also included an analysis of two cohorts of individuals from Quebec, which made it possible to identify other mutations in the SYN1 gene among 1% and 3.5% of those suffering respectively from autism and epilepsy, while several carriers of the SYN1 mutation displayed symptoms of both disorders.

“The results show for the first time the role of the SYN1 gene in autism, in addition to epilepsy, and strengthen the hypothesis that a deregulation of the function of synapse because of this mutation is the cause of both diseases,” notes Cossette. He adds that “until now, no other genetic study of humans has made this demonstration.”

The Whole Deal
To read the full study go to the source at the Journal of Human Molecular Genetics.

I can’t wait to hear your thoughts on this story.

Jessica K. Smith
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