SUDEP Risk is Influenced by Genomics: a Polygenic Risk Score Study

This study was supported in part by a CURE Epilepsy award from CURE Epilepsy

In a CURE Epilepsy-funded study, scientists investigated common genetic variation as a contributing factor to Sudden Unexpected Death in Epilepsy (SUDEP).

SUDEP is a rare and tragic outcome in epilepsy, identified by those with the condition as their most serious concern. Several clinical factors are associated with elevated SUDEP risk. However, the mechanisms underlying SUDEP are poorly understood, and individual risk prediction is challenging, especially early in the disease course.

Genetic data from patients who had succumbed to SUDEP were compared to data from patients with epilepsy who had not succumbed to SUDEP and from people without epilepsy. Scientists calculated polygenic risk scores (PRSs) based on common genetic variation and associated scores with SUDEP risk.

Researchers found that common genetic variation contributes to SUDEP risk, offering new approaches to improve SUDEP risk prediction and to understand the underlying biological mechanisms of SUDEP.  While additional study is needed, the findings may eventually contribute to improved individual-level SUDEP risk prediction.

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