AsianScientist (Apr. 8, 2013) – An international team of researchers has tracked a hereditary gene responsible for a common form of epilepsy known as focal or partial epilepsy.
The research, published in the journal Nature Genetics, proves the hereditary nature of a form of epilepsy previously believed to be caused by structural abnormalities such as a brain injury or a tumor. Known as focal epilepsy, it is the most common form of epilepsies, accounting for about 60 percent of all cases.
“Focal epilepsy was not previously thought of as being inherited and identifying this gene will help in the diagnosis and treatment of many people with epilepsy,” said University of South Australia’s Associate Professor Leanne Dibbens. “It is also particularly important for families to know more about why and how this kind of epilepsy occurs.”
The researchers in Australia, working with experts from the Netherlands, Belgium, Germany, Israel, and Canada, detected the mutations in the recently discovered gene DEPDC5 on Chromosome 22, one of the smallest human chromosomes and the first to be fully sequenced.
“Previously genes for focal epilepsy have been identified for rare familial epilepsies but this new gene is also relevant to patients without a strong family history of the disorder,” said Dibbens.
She says a small proportion of people with abnormalities of this gene also have intellectual disabilities, psychiatric, or autism spectrum disorders. The gene makes a protein that is found within nerve cells and appears to be important for signalling within cells.
“As we learn more about its function, and understand the epilepsies and other conditions associated with its malfunction, we hope it will lead to improvements in clinical care,” she said.
The article can be found at: Dibbens LM et al. (2013) Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Source: UniSA; Photo: www.ruffrootcreative.com/Flickr/CC.
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