SchaferAutismReport: Common Genetic Cause of Autism and Epilepsy Discovered

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RESEARCH

Common Genetic Cause of Autism and Epilepsy Discovered

http://xrl.in/8r1d

ScienceDaily — Researchers from the CHUM

Research Centre (CRCHUM) have identified a new gene that predisposes

people to both autism and epilepsy.

Led by the neurologist Dr.

Cossette, the research team found a severe mutation of the synapsin

gene (SYN1) in all members of a large French-Canadian family suffering

from epilepsy, including individuals also suffering from autism. This

study also includes 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, who is also a professor with the Faculty of Medicine at the

Université de Montréal.

He adds that "until now, no other

genetic study of humans has made this demonstration."

The different forms of autism are often

genetic in origin and nearly a third of people with autism also suffer

from epilepsy. The reason for this comorbidity is unknown. The synapsin

gene plays are crucial role in the development of the membrane

surrounding neurotransmitters, also referred to as synaptic vesicles.

These neurotransmitters ensure communication between neurons. Although

mutations in other genes involved in the development of synapses (the

functional junction between two neurons) have

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RESEARCH

Common Genetic Cause of Autism and Epilepsy Discovered

Mortality in Individuals With Autism, With and Without Epilepsy.

Gene Linked to Severity of Autism's Social Dysfunction Identified

Epileptic Seizures Linked to Significant Risk of Subsequent Brain Tumor

Bullying Alters Brain Chemistry, Leads to Anxiety

Technique for Letting Brain Talk to Computers Now Tunes in Speech

RESOURCES

Autism-Believe in the Future: From Infancy to Independence

NEWS

Audit: $305K Stolen From Bremerton DSHS Autism Center

PEOPLE

Autistic Boy, 12, Dies Saving His Father From Fire That Destroyed Their

Home

Mass. Mom Admits Withholding Cancer Meds From Son

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