Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2015;15(12):1531-8.
doi: 10.1586/14737159.2015.1113132. Epub 2015 Nov 13.

The contribution of next generation sequencing to epilepsy genetics

Rikke S Møller  1   2 , Hans A Dahl  3 , Ingo Helbig  4   5
Affiliations
Review

The contribution of next generation sequencing to epilepsy genetics

Rikke S Møller et al. Expert Rev Mol Diagn. 2015.

Abstract

During the last decade, next generation sequencing technologies such as targeted gene panels, whole exome sequencing and whole genome sequencing have led to an explosion of gene identifications in monogenic epilepsies including both familial epilepsies and severe epilepsies, often referred to as epileptic encephalopathies. The increased knowledge about causative genetic variants has had a major impact on diagnosis of genetic epilepsies and has already been translated into treatment recommendations for a few genes. This article provides an overview of how next generation sequencing has advanced our understanding of epilepsy genetics and discusses some of the recently discovered genes in monogenic epilepsies.

Keywords: Epilepsy; de novo mutations; epileptic encephalopathies; familial epilepsies; gene panels; genetics; next generation sequencing; whole exome sequencing.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles