The role of common genetic variation in presumed monogenic epilepsies.

ABSTRACT:

Background

The developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies which co-present with developmental delay and intellectual disability (ID). DEEs usually occur in people without a family history of epilepsy and have emerged as primarily monogenic, with damaging rare mutations found in 50% of patients. Little is known about the genetic architecture of patients with DEEs in whom no pathogenic variant is identified. Polygenic risk scoring (PRS) is a method that measures a person's common genetic burden for a trait or condition. Here, we used PRS to test whether genetic burden for epilepsy is relevant in individuals with DEEs, and other forms of epilepsy with ID.

Methods

Genetic data on 2,759 cases with DEEs, or epilepsy with ID presumed

SUBMITTER: Campbell C 

PROVIDER: S-EPMC9188960 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature