The Genetics of Epilepsy.
GWAS
epilepsy
epilepsy genes
genetics
genome-wide association study
oligogenic models
polygenic risk scores
repeat expansions
Journal
Annual review of genomics and human genetics
ISSN: 1545-293X
Titre abrégé: Annu Rev Genomics Hum Genet
Pays: United States
ID NLM: 100911346
Informations de publication
Date de publication:
31 08 2020
31 08 2020
Historique:
pubmed:
28
4
2020
medline:
25
6
2021
entrez:
28
4
2020
Statut:
ppublish
Résumé
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50 million people worldwide. Epilepsy may have discernible structural, infectious, metabolic, and immune etiologies; however, in most people with epilepsy, no obvious cause is identifiable. Based initially on family studies and later on advances in gene sequencing technologies and computational approaches, as well as the establishment of large collaborative initiatives, we now know that genetics plays a much greater role in epilepsy than was previously appreciated. Here, we review the progress in the field of epilepsy genetics and highlight molecular discoveries in the most important epilepsy groups, including those that have been long considered to have a nongenetic cause. We discuss where the field of epilepsy genetics is moving as it enters a new era in which the genetic architecture of common epilepsies is starting to be unraveled.
Identifiants
pubmed: 32339036
doi: 10.1146/annurev-genom-120219-074937
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM