Newsletters

Skuola Screenshot PieceMay 2013: We are thrilled to report that over the 7 years that EPGP was enrolling and phenotyping, our final dataset contains 4,199 people with epilepsy and their family members and more than 38,000 study activities (interviews, EEGs, blood samples, etc)—more than 6.9 million data points. Together we have worked to create, in EPGP, a scientific resource that is changing the way we think about genetics of epilepsy. In the Infantile Spasms cohort, two entirely new genes were discovered, and in the polymicrogyria cohort, one entirely new gene was discovered.

The Music Magazine Screenshot PieceJune 2015: Since our last newsletter, the EPGP investigators have continued studying the genes in EPGP. In Epi4K Project 1, the EPGP cohort contributed to new gene discoveries: two new genes showed association with epileptic encephalopathies (GABR3 and ALG13), and many other genes (CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR and NEDD4L) also had de novo mutations The group has also shown that de novo mutations observed are enriched in specific gene sets, including genes regulated by the fragile X  protein. The investigators are continuing to look for new gene discoveries in the families with infantile spasms, Lennox-Gastaut Syndrome, and polymicrogyria and periventricular heterotopia, as well as the families with generalized and focal epilepsies.