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Approved Research

Examining role of rare genetic variation on risk of common epilepsy disorders

Principal Investigator: Dr Michael Epstein
Approved Research ID: 78769
Approval date: August 10th 2022

Lay summary

Epilepsy is a common neurological disorder characterized by recurrent seizures. Both genetic and environmental factors contribute to the development and severity of epilepsy, but the genetic basis for common epilepsy is largely unknown. Previous studies indicate that rare variants may contribute but that large sample sizes are needed to appropriately test this hypothesis. This study plans to use whole exome sequencing from cases from the Epi4K consortium, which recruited individuals who both had epilepsy and at least 2 other family members with epilepsy, and controls from the UK Biobank to test whether rare variants are enriched in any genes across the genome. We will also be able to test whether the genes most associated with epilepsy from these tests are enriched in any biological pathway that could give insight into the mechanisms behind epilepsy development and be potential avenues for therapeutics which would lead to better clinical outcomes. The proposed project timeline is 12 months.