20-1-2009 | Missing DNA could cause epilepsy

20 January 2009
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A team of researchers from the University of Cologne in Germany have discovered a missing segment of DNA which could be the culprit in idiopathic seizures (seizures whose origins are unknown).

The researchers genetically screened 647 people with idiopathic generalised epilepsy (IGE) who were compared with 1,202 individuals without epilepsy.

They found that a deleted section of DNA on chromosome 15 was present in 1% of those with idiopathic epilepsy. At least seven genes are missing from the deleted section, including one gene, CHRNA7, which is responsible for regulating signalling at the junctions between nerves.

Mutations in other members of the same gene family are known to cause a rare form of epilepsy, suggesting that the loss of CHRNA7 may explain the link between chromosome 15 and IGE, which accounts for up to a third of all cases of epilepsy.

The discovery may help scientists understand the cause of unexplained seizures and develop potential new treatments.

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