In an investigation led Elisabeth Stogmann with Cairo's Ain Shams University and the Helmholtz Centre Munich, have identified a gene behind an epilepsy syndrome, which could also play an important role in other idiopathic (genetically caused) epilepsies. The research was focused on an Egyptian family in which 5 sick children resulted from a marriage from a first cousin to a second cousin.
They found that CNTN2 undertakes an important function in the attaching potassium channels to the synapses. Potassium channels are designed to allow the flow of potassium ions across the membrane, but to block the flow of other ions--in particular, sodium ions. This page goes more into depth about potassium channels.
The mutation they found makes it no longer possible to generate this protein and then, the potassium channels no longer remain attached to the synapses. The researchers believe that the epilepsy in this family is triggered by the altered function of the potassium channels.
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