Scientists may have taken a step forward when it comes to better understand severe, difficult-to-treat forms of childhood epilepsy. They’ve discovered the gene mutations responsible, which disrupt functioning in the synapse, the highly dynamic junction at which nerve cells communicate with one another. The current study actually adds to a list of gene mutations associated with these severe epilepsy syndromes, called epileptic encephalopathies. The scientists discovered these mutations in the first place by sequencing the exomes of 356 patients with severe childhood epilepsies, as well as their parents. They looked for “de novo” mutations-ones that appeared in affected children, but not in their parents. In all, they found 429 de novo mutations.
