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

ion in the brain, and could also hold the key to better understanding related issues, such as autism and obsessive disorders.

With 100 related proteins involved in this gene family, this study could lead to many new areas of research, with the need to understand the role and function of each protein, she says.

Clinically, the disorder EFMR was first described more than 10 years ago, but the cause of EFMR has been unknown until now. Why females rather males are affected as is usual for X chromosome associated disorders makes this a unique disorder among the epilepsies and mental retardations.

For this study, seven families were studied in Australia, the United States, Israel and Ireland. The genetic mutation was discovered in each family.

Crucial to this research was access to state-of-the-art technological support including the sequencing of 737 genes on the X chromosome, which was conducted by collaborators at the Wellcome Trust Sanger Institute in the UK.


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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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