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 core (3 of 7 - Sequencing, Biostatistics, and Bioinformatics Core) are to 1) sequence and annotate 4,000 genomes, 2) develop computational procedures for calling CNVs in whole exome data, 3) identify and prioritize variants of interest for all three projects, 4) conduct follow up genotypin analyses in a cohort of additional cases and controls, and 5) quickly and efficiently share data among the Epi4K consortium.
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. Disclaimer: Please note that the following critiques were prepared by the reviewers prior to the Study Section meeting and are provided in an essentially unedited form. While there is opportunity for the reviewers to update or revise their written evaluation, based upon the group's discussion, there is no guarantee that individual critiques have been updated subsequent to the discussion at the meeting. Therefore, the critiques may not fully reflect the final opinions of th individual reviewers at the close of group discussion or the final majority opinion of the group. Thus the Resume and Summary of Discussion is the final word on what the reviewers actually considered critical at the meeting.
|Epilepsy Genetics Initiative (2017) De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy. Genet Med :|
|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|
|Myers, Candace T; Stong, Nicholas; Mountier, Emily I et al. (2017) De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. Am J Hum Genet 101:516-524|
|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|
|Gussow, Ayal B; Petrovski, Slavé; Wang, Quanli et al. (2016) The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes. Genome Biol 17:9|
|Halvorsen, Matt; Petrovski, Slavé; Shellhaas, Renée et al. (2016) Mosaic mutations in early-onset genetic diseases. Genet Med 18:746-9|
|Epi4K Consortium (2016) De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. Am J Hum Genet 99:287-98|
|Petrovski, Slavé; Parrott, Roberta E; Roberts, Joseph L et al. (2016) Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. J Clin Immunol 36:462-71|
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