Rare gene variants linked to high risk of broad range of seizure disorders

Scientists at Duke University Medical Center have uncovered evidence suggesting that people missing large chunks of DNA on chromosome 16 are much more likely than others to develop a chronic seizure disorder during their lifetime. "We found that the presence of this genetic variant is one of the strongest risk factors for all forms of epilepsy, possibly accounting for as many as 300,000 cases of epilepsy world-wide," said Erin Heinzen, an assistant professor in the Center for Human Genome Variation at Duke University Medical Center and the lead author of the study appearing online in the American Journal of Human Genetics. Heinzen says the variants are quite rare, but when they do appear they are likely to produce an effect.

Previous studies at Duke and elsewhere found that genetic alterations at this particular stretch of DNA (located at chromosome 16p13.11) are linked to higher risk of schizophrenia, mental retardation, and very specific forms of epilepsy, but this is the first study to show that the deletion is related to a much broader spectrum of seizure disorders as well.

Published: Thursday, April 15, 2010 - 13:04 in Biology & Nature

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