The role of common genetic variation in presumed monogenic epilepsies
Journal
EBioMedicine
Journal Volume
81
Date Issued
2022-07
Author(s)
Campbell, Ciarán
Leu, Costin
Wolking, Stefan
Moreau, Claudia
Ellis, Colin
Ganesan, Shiva
Martins, Helena
Oliver, Karen
Boothman, Isabelle
Benson, Katherine
Molloy, Anne
Brody, Lawrence
Michaud, Jacques L
Hamdan, Fadi F
Minassian, Berge A
Lerche, Holger
Scheffer, Ingrid E
Sisodiya, Sanjay
Girard, Simon
Cosette, Patrick
Delanty, Norman
Lal, Dennis
Cavalleri, Gianpiero L
Abstract
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.
Subjects
DEEs; Epilepsy; Genetic diagnostics; PRS
Type
journal article