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Gene-STEPS: Shortening Time of Evaluation in Paediatric Epilepsy Services

Great Ormond Street Hospital for Children NHS Foundation Trust · 2021
ClinicalTrials.gov · Datasets · License: Public Domain · 2021
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epilepsygeneticspaediatricwhole-genome-sequencing
Overall, this observational cohort study aims too: 1. Implement rapid trio WGS for all children presenting to our health systems with epilepsy onset under 12 months of age. 2. Utilize electronic healthcare records and research databases to unite phenotypic and genomic data and to create a "virtual" registry across all institutions that will promote ongoing discovery. 3. Assess the impact of early genetic diagnosis on epilepsy, developmental, and health economic outcomes through formal longitudinal assessments of all children enrolled.
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