Article
A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.
Clinical genetics - 1 Dec 2014
Martin C, Meloche C, Rioux M-F, Nguyen D K, Carmant L, Andermann E, Gravel M, Cossette P
Abstract excerpt
Familial focal epilepsy with variable foci (FFEVF) is a heterogeneous epilepsy syndrome originally described in the French-Canadian (FC) population. Mutations in DEPDC5 have recently been identified in multiple cases of FFEVF as well as in a wide spectrum of other familial focal epilepsies. In this study, we aimed to determine the frequency of mutation of this gene in our large cohort of FC individuals with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.