A Blocked Gene Switch May Explain Brain Excitability in Rolandic Epilepsy
We have recently published a scientific paper in which we have found a probable cause for the abnormal brainwave found in children with rolandic epilepsy. The work represents 10 years work that started with the study of children with RE and all their family members. Through these families we found that the brainwave abnormality, known as centrotemporal spikes or CTS for short, is present in about half of all siblings, and we localised the genetic cause of CTS to chromosome number 11. In this latest piece of work, we compared the genetic code of 156 children with RE with 1,000 people without epilepsy, and found a change in the code in chromosome 11 near to a gene known as PAX6. PAX6 is very important for many aspects of early brain development, especially influencing the thickness of the surface layers of the brain. The change we found is in a “switch” that makes the gene active, and the effect of the change is to block the switch in the “on” position. This is very exciting and of course the first evidence of a genetic cause in the common forms of RE. Our next step is to experimentally model this change in the lab and see how we can reset the switch.
To read the whole article in open-access, see: http://onlinelibrary.wiley.com/doi/10.1002/acn3.320/full
