Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes

Frontiers in Genetics
Paul DunnLyn R Griffiths

Abstract

Epilepsy is a neurological disorder characterized by an increased predisposition for seizures. Although this definition suggests that it is a single disorder, epilepsy encompasses a group of disorders with diverse aetiologies and outcomes. A genetic basis for epilepsy syndromes has been postulated for several decades, with several mutations in specific genes identified that have increased our understanding of the genetic influence on epilepsies. With 70-80% of epilepsy cases identified to have a genetic cause, there are now hundreds of genes identified to be associated with epilepsy syndromes which can be analyzed using next generation sequencing (NGS) techniques such as targeted gene panels, whole exome sequencing (WES) and whole genome sequencing (WGS). For effective use of these methodologies, diagnostic laboratories and clinicians require information on the relevant workflows including analysis and sequencing depth to understand the specific clinical application and diagnostic capabilities of these gene sequencing techniques. As epilepsy is a complex disorder, the differences associated with each technique influence the ability to form a diagnosis along with an accurate detection of the genetic etiology of the disorder. In ...Continue Reading

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Citations

Sep 25, 2018·Journal of Neurogenetics·Jeffrey D Calhoun, Gemma L Carvill
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Methods Mentioned

BETA
exome sequencing
chromosomal aberrations
PCRs
PCR

Software Mentioned

MrMosaic

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