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Major epilepsy gene identified

12 March, 2002

Researchers in Australia have identified a major gene responsible for both epilepsy and learning disabilities, according to a report in the journal Nature Genetics.

Learning disabilities and epilepsy often occur together and frequently have genetic causes. Now, for the first time, researchers from the Women’s and Children’s Hospital in Adelaide have identified a major gene that is responsible for both conditions. Dr Jozef Gecz from the hospital's Dept of Cytogenetics and Molecular Genetics says:

"This gene is found on the X-chromosome and is one of probably 100 genes on that chromosome, which when mutated, can cause learning disabilities.

"The really novel aspect to this gene is its involvement in epilepsy as well as in intellectual disability. Previously nine other epilepsy-causing genes have been identified and these belong predominantly to a specific group called ‘ion channels’ and they have nothing to do with intellectual disability.

"Our new gene is different, being more of a master gene, controlling how, where and when other genes work and thus contributing to the normal cognitive function of human brain.

"It will be very interesting to know the identity of these genes, that are under control of this master gene as they may potentially be involved in either epilepsy, intellectual disability, or both" says Dr Gecz.

"Our findings of mutations in this gene in the set of nine families with various clinical presentations including West syndrome, Partington syndrome, myoclonic epilepsy, syndromic and non-specific intellectual disability is quite unexpected", Dr Gecz says.

The identification of this gene may have its biggest impact on families and isolated cases with ‘non-specific’ learning disabilities, which until now could only be diagnosed by delayed development and intellectual impairment. However, this still needs to be substantiated by further experiments.

Commenting on the research, a spokesman for BEA said:

"We view this recent research with considerable interest.

"Epilepsy that effects children, such as West Syndrome, can have a considerable impact on families, so anything that could potentially help these families or increase understanding about the condition is to be welcomed.

"We would certainly like to see further research into genetics and epilepsy because there is still not enough understood about the link between the two."