Amplexa co-published article on the contribution of next generation sequencing to epilepsy genetics


The contribution of next generation sequencing to epilepsy genetics

Rikke S. Møller, Hans A Dahl and Ingo Helbig

JournalExpert Review of Molecular Diagnostics 
Volume 15, 2015 - Issue 12, pp. 1531-38

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.

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