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Epilepsy genes "may cancel each other" - study

8 Nov 2007

New research suggests that inheriting two genetic mutations that can
individually cause epilepsy might actually reduce the number of

The study, by researchers from Baylor College of Medicine, has been published in the journal Nature Neuroscience.

author Dr Jeffrey Noebels found that if someone has a potassium channel
defect, then a drug blocking certain calcium channels might benefit
them. The researchers tested this hypothesis by breeding mice with two
defective genes that govern ion channels, tiny pores in cells that
allow molecules such as potassium and calcium to flow in and out. The
genes were known to cause epilepsy when inherited singly within
families. They have also been found in a large-scale screening of
people with seizure disorders that have not been inherited.

genetic defect is a mutation in the Kcna1 gene involved in the channel
that allows potassium to flow in and out of the cell. It causes severe
seizures affecting the brain's temporal lobe. The other mutation is in
a calcium channel gene that causes a specific type of seizure
associated with absence epilepsy. When both types of mutation occurred
in the same young mouse, that animal had dramatically reduced seizures.

Dr Noebels commented:

than screening for 'bad' genes one at a time, it may be essential to
create a complete profile of many or even all genes in order to
accurately assess the true genetic risk of any single defect in many
common disorders such as epilepsy. Fortunately, this amount of
background information will soon become routinely obtainable in
individual patients thanks to rapid technological progress in the field
of neurogenomics.

"We believe these findings have great
significance to clinicians as we move toward relying upon genes to
predict neurological disease."