You are here

Gene links autism and epilepsy

Gene links autism and epilepsy
11th April 2011

A common genetic cause of autism and epilepsy has been identified, furthering research into the conditions, which can lead to patients requiring respite care.

Severe mutation of the synapsin gene (SYN1) was found in all of the members of a large family with epilepsy, some of whom also have autism, in a study published online in journal Human Molecular Genetics.

It is believed that almost one third of people with autism also have epilepsy and as of yet, the reason for this incidence is unclear.

Study leader Patrick Cossette said: "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."

This follows the identification of a social interaction gene in autism. Findings, by researchers at Johns Hopkins, support previous evidence that autism spectrum disorders are connected with an imbalance of signalling at synapses.

Find out about Barchester's support for adults and children with a wide range of Autistic spectrum conditions.