Epilepsy genetics: clinical impacts and biological insights.


Journal

The Lancet. Neurology
ISSN: 1474-4465
Titre abrégé: Lancet Neurol
Pays: England
ID NLM: 101139309

Informations de publication

Date de publication:
01 2020
Historique:
received: 24 12 2018
revised: 18 05 2019
accepted: 11 06 2019
pubmed: 9 9 2019
medline: 10 7 2020
entrez: 9 9 2019
Statut: ppublish

Résumé

Genomics now has an increasingly important role in neurology clinics. Regarding the epilepsies, innovations centred around technology, analytics, and collaboration have led to remarkable progress in gene discovery and have revealed the diverse array of genetic mechanisms and neurobiological pathways that contribute to these disorders. The new genomic era can present a challenge to clinicians, who now find themselves asked to interpret and apply genetic data to their daily management of patients with epilepsy. Navigation of this new era will require genetic literacy and familiarity with research advances in epilepsy genetics. Genetic epilepsy diagnoses now directly affect clinical care, and their importance will only increase as new targeted treatments continue to emerge. At the same time, new genetic insights challenge us to move from a deterministic view of genetic changes to a more nuanced appreciation of genetic risk within complex neurobiological systems that give rise to epilepsy.

Identifiants

pubmed: 31494011
pii: S1474-4422(19)30269-8
doi: 10.1016/S1474-4422(19)30269-8
pii:
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

93-100

Subventions

Organisme : NINDS NIH HHS
ID : T32 NS091008
Pays : United States

Commentaires et corrections

Type : CommentIn

Informations de copyright

Copyright © 2020 Elsevier Ltd. All rights reserved.

Auteurs

Colin A Ellis (CA)

Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA; Epilepsy Research Centre, Department of Medicine, University of Melbourne (Austin Health), Heidelberg, VIC, Australia.

Slavé Petrovski (S)

Epilepsy Research Centre, Department of Medicine, University of Melbourne (Austin Health), Heidelberg, VIC, Australia; Centre for Genomics Research, Discovery Sciences, Research and Development Biopharmaceuticals, AstraZeneca, Cambridge, UK.

Samuel F Berkovic (SF)

Epilepsy Research Centre, Department of Medicine, University of Melbourne (Austin Health), Heidelberg, VIC, Australia. Electronic address: s.berkovic@unimelb.edu.au.

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Classifications MeSH