Article
Polygenic burden in focal and generalized epilepsies.
Brain : a journal of neurology - 1 Nov 2019
Leu Costin, Stevelink Remi, Smith Alexander W, Goleva Slavina B, Kanai Masahiro, Ferguson Lisa, Campbell Ciaran, Kamatani Yoichiro, Okada Yukinori, Sisodiya Sanjay M, Cavalleri Gianpiero L, Koeleman Bobby P C, Lerche Holger, Jehi Lara, Davis Lea K, Najm Imad M, Palotie Aarno, Daly Mark J, Busch Robyn M, Lal Dennis
Abstract excerpt
Rare genetic variants can cause epilepsy, and genetic testing has been widely adopted for severe, paediatric-onset epilepsies. The phenotypic consequences of common genetic risk burden for epilepsies and their potential future clinical applications have not yet been determined. Using polygenic risk scores (PRS) from a European-ancestry genome-wide association study in generalized and focal epilepsy, we quantified...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.