Article
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Epilepsia - 1 Feb 2020
Rochtus Anne, Olson Heather E, Smith Lacey, Keith Louisa G, El Achkar Christelle, Taylor Alan, Mahida Sonal, Park Meredith, Kelly McKenna, Shain Catherine, Rockowitz Shira, Rosen Sheidley Beth, Poduri Annapurna
Abstract excerpt
OBJECTIVE: We evaluated the yield of systematic analysis and/or reanalysis of whole exome sequencing (WES) data from a cohort of well-phenotyped pediatric patients with epilepsy and suspected but previously undetermined genetic etiology. METHODS: We identified and phenotyped 125 participants with pediatric epilepsy. Etiology was unexplained at the time of enrollment despite clinical testing, which included...
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