The primary goal of the Epi4K Center Without Walls is to increase understanding of the genetic basis of human epilepsy in order to improve the well-being of patients and family members living with these disorders. This improvement will come in the form of better diagnostics, treatments and cures. To accomplish this goal, Epi4K aims to analyze the genomes of a large number of well-phenotyped epilepsy patients and families collected by investigators from several major research groups. The specific goals of this project (1 of 7 - Administrative Core) are to provide overall leadership to the Center, specifically regarding the Center's charter, universal protocols, plans for data sharing, internal and external communications, and tracking of scientific progress of all cores and projects within the Center.
Epilepsy is one of the most common human neurological disorders, affecting 3% of the population. Although it is clear that there is a strong genetic component for epilepsy, there are still only a few genes known. The Epi4K project will identify new genes and genetic pathways in epilepsy and will directly benefit individuals with epilepsy and their families through improved diagnostic, prognostic and recurrence risk information.
|Winawer, Melodie R; Griffin, Nicole G; Samanamud, Jorge et al. (2018) Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol 83:1133-1146|
|Ottman, Ruth; Freyer, Catharine; Mefford, Heather C et al. (2018) Return of individual results in epilepsy genomic research: A view from the field. Epilepsia 59:1635-1642|
|Epi4K Consortium; EuroEPINOMICS-RES Consortium; Epilepsy Phenome Genome Project (2017) Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. Eur J Hum Genet 25:894-899|
|Gelfman, Sahar; Wang, Quanli; McSweeney, K Melodi et al. (2017) Annotating pathogenic non-coding variants in genic regions. Nat Commun 8:236|
|Roohi, Jasmin; Crowe, Jennifer; Loredan, Denis et al. (2017) New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation. J Hum Genet 62:581-584|
|Broix, Loïc; Jagline, Hélène; Ivanova, Ekaterina et al. (2016) Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. Nat Genet 48:1349-1358|
|Epi4K Consortium (2016) De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. Am J Hum Genet 99:287-98|
|EpiPM Consortium (2015) A roadmap for precision medicine in the epilepsies. Lancet Neurol 14:1219-28|
|Lowenstein, Daniel H (2015) Decade in review-epilepsy: edging toward breakthroughs in epilepsy diagnostics and care. Nat Rev Neurol 11:616-7|
|Epilepsy Phenome/Genome Project Epi4K Consortium (2015) Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy. Ann Neurol 78:323-8|
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