Loss of function (LOF) mutations in hundreds of genes are associated with human epilepsy. However, the high frequency of sequence variation among individuals presents a challenge to ascribe missense...
The ability to rapidly sequence exomes/genomes with next- generation DNA sequencing (NGS) has accelerated epilepsy gene discovery, and the list of epilepsy genes has grown well beyond ion channels...
Project 3, in concert with GVCC and Projects 1 and 2, will test the pathogenicity of selected Variant of Unknown Significance (VUS) using in vivo zebrafish and rodent models....
The mission of the EpiMVP Administrative Core is to oversee and coordinate the activities of the EpiMVP Center Without Walls, including the work of the Gene and Variant Curation...
The Gene and Variant Curation Core (GVCC) is to be the central hub for decision making of the genes and variants for study by the Epilepsy Multiplatform Variant Prediction...
The Human Epilepsy Tools Core (HETC) functions as an independent unit housed with the Human Stem Cell and Gene Editing (HSCGE) core at the University of Michigan. The HETC...