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Mutant gene causes epilepsy, intellectual disability in women
Date:5/12/2008

A mutated gene has been discovered as the key behind epilepsy and mental retardation specific to women, thanks to new research at Adelaides Womens & Childrens Hospital and the University of Adelaide, Australia.

The world-first discovery, published today in Nature Genetics, shows that although men carry the bad gene, only women are affected.

The research has been led by Dr Leanne Dibbens and Associate Professor Jozef Gecz from the Department of Genetic Medicine, Womens & Childrens Hospital, and the Discipline of Paediatrics at the University of Adelaide. The discovery is a result of a major international collaboration involving the Sanger Institute in Cambridge (UK), Wellcome Trust (UK) and many other collaborators in Australia, the United States, Ireland and Israel.

Their work has linked, for the first time, a large family of genes known as protocadherins with a condition known as epilepsy and mental retardation limited to females (EFMR).

Although a relatively uncommon disorder, the condition is hereditary, with successive generations of women affected. In just one of seven families studied across the world, 23 women were affected by the disorder across five generations. This discovery will now enable such families to benefit from genetic counselling, including screening for the genetic mutation at pregnancy.

This is the first time this type of gene has been found to be involved in epilepsy, Dr Dibbens says.

One of the most important discoveries weve made is that women in families affected by EFMR carry both a 'good' gene and a 'bad' (mutated) gene, while the men carry only the bad gene. For some reason, the men remain unaffected by the condition, Dr Dibbens says.

We suspect this may have something to do with the male Y chromosome, but more research will be needed to find out exactly how or why.

Dr Dibbens says the gene involved in this discovery is important for cell-to-cell communicat
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Contact: Dr. Leanne Dibbens
leanne.dibbens@cywhs.sa.gov.au
61-881-616-842
University of Adelaide
Source:Eurekalert

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