Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

ABSTRACT:

Objective

The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever-increasing catalogue of SCN1A variants. Variants are more likely to be classified as pathogenic if they have already been identified previously in a patient with epilepsy. Here, we critically re-evaluate the pathogenicity of this class of variants in a cohort of patients with common epilepsy syndromes and subsequently ask whether a significant fraction of benign variants have been misclassified as pathogenic.

Methods

We screened a discovery cohort of 448 patients with a broad range of common genetic epilepsies and 734 controls for prev

SUBMITTER: Lal D 

PROVIDER: S-EPMC4798642 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature