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
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

Pagination

205-230

Auteurs

Piero Perucca (P)

Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Victoria 3000, Australia.
Departments of Medicine and Neurology, The Royal Melbourne Hospital, The University of Melbourne, Melbourne, Victoria 3050, Australia.
Department of Neurology, Alfred Health, Melbourne, Victoria 3000, Australia.

Melanie Bahlo (M)

Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria 3052, Australia.
Department of Medical Biology, The University of Melbourne, Melbourne, Victoria 3010, Australia.

Samuel F Berkovic (SF)

Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Melbourne, Victoria 3084, Australia; email: s.berkovic@unimelb.edu.au.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH