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Very Important Milestone In Epilepsy Research

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1 Very Important Milestone In Epilepsy Research on Wed Sep 30, 2009 5:43 pm

TJW

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Epilepsy affects up to 1-3% of the population, and although there are many types, their causes have not been fully established.

Until now, genetic abnormalities have only been associated with rare types of epilepsy; however a team of researchers, led by Dr Ingo Helbig, of the University of Kiel in Germany, has recently discovered a genetic defect that could play vital role in common epilepsies.

Chromosomes are condensed packages of DNA, which hold the thousands of genes that make us what we are. All humans have 46 chromosomes, 23 from their mother and 23 from their father.

The scientists studied the DNA of 1,223 people with idiopathic generalised epilepsy (IGE), and 3,699 controls (people without epilepsy). They found that in the IGE group, 12 people were missing the same part of aspecific chromosome. This is known as a 'micro-deletion' and means that some of the genes from that chromosome had also been lost.

12/1,223may not seem significant on the surface, but remember we are not assuming that micro-deletion caused all of the cases of IGE. Also, thefact that the micro-deletion didn't occur in any of the controls, gives strong evidence that it is associated with epilepsy.

Interestingly, this particular micro-deletion has been previously associated with intellectual disability, schizophrenia and autism; yet most of the patients who possessed it did not show signs of these conditions.

When the study was repeated on patients in the US, these findings were confirmed.

This discovery is an important milestone for the understanding of epilepsy, and could potentially open avenues for new treatments. It might also provide clues as to how other common disorders develop.

In fact, these results indicate that these micro-deletions constitute themost prevalent risk factor for common epilepsies identified to date!

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