Abstract
The Developmental and Epileptic Encephalopathies (DEE) are a group of clinically and etiologically heterogenous disorders that are characterised by early onset seizures and neurodevelopment delay. Most often they have a genetic origin, but although > 100 DEE genes are known to date, around 50% of children remain without diagnosis after performing whole exome sequencing (WES). We hypothesise that non-coding or synonymous genomic variants can have a disruptive effect on gene expression, not only through a direct effect on transcription, but also by influencing DNA methylation. By generating a complimentary dataset of genomics, transcriptomics and methylomics data on a cohort of well-characterised trio WES negative DEE patients, we will not only decrease the diagnostic gap in DEE, but will also contribute to our understanding of the impact of genomic variation on regulation of gene expression.
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