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.
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| Assoum, Mirna; Lines, Matthew A; Elpeleg, Orly et al. (2018) Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations. Am J Med Genet A 176:2470-2478 |
| Shaw, Kelly A; Cutler, David J; Okou, David et al. (2018) Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort. Genes Immun : |
| 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 |
| Heinzen, Erin L; O'Neill, Adam C; Zhu, Xiaolin et al. (2018) De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet 14:e1007281 |
| Epilepsy Genetics Initiative (2018) De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy. Genet Med 20:275-281 |
| Epi4K consortium; Epilepsy Phenome/Genome Project (2017) Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. Lancet Neurol 16:135-143 |
| 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 |
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