The Epi4K Consortium is working to advance discoveries related to the genetic basis of epilepsy and its treatment. Our current projects are studying participants in extended families with both localized and generalized epilepsy, and we are studying “trios” of families with encephalopathies and malformations of cortical development.
In the Epi4K Project 1 for the epileptic encephalopathies, two new genes showed clear statistical evidence of association with epileptic encephalopathy: GABR3, with de novo mutations in four participants, and ALG13, with the same de novo mutation in two participants. Other genes with de novo mutations in this cohort include CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR and NEDD4L. Finally, the group has shown that de novo mutations observed are enriched in specific gene sets, including genes regulated by the fragile X protein.
As new discoveries are published, they will be added to this page.