Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy.

ABSTRACT:

Objective

Variants in neuronal voltage-gated sodium channel α-subunits genes SCN1A, SCN2A, and SCN8A are common in early onset epileptic encephalopathies and other autosomal dominant childhood epilepsy syndromes. However, in clinical practice, missense variants are often classified as variants of uncertain significance when missense variants are identified but heritability cannot be determined. Genetic testing reports often include results of computational tests to estimate pathogenicity and the frequency of that variant in population-based databases. The objective of this work was to enhance clinicians' understanding of results by (1) determining how effectively computational algorithms predict epileptogenicity of sodium channel (SCN) missense variants; (2) optimizing their predic

SUBMITTER: Holland KD 

PROVIDER: S-EPMC5505324 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature