Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Epilepsia - 1 Jul 2017

Holland Katherine D, Bouley Thomas M, Horn Paul S

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Computer Simulation
Share to Databases, Genetic
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to NAV1.2 Voltage-Gated Sodium Channel

Share to NAV1.6 Voltage-Gated Sodium Channel

Share to Predictive Value of Tests

Share to Sodium Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 28518218
DOI: 10.1111/epi.13798
PMCID: PMC5505324

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy.PMID 28518218Read ↗

Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy-associated genetic missense variants.Semantic proximity Read ↗

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.Semantic proximity Read ↗

Optimization of in silico tools for predicting genetic variants: individualizing for genes with molecular sub-regional stratification.Semantic proximity Read ↗

A New Era in Missense Variant Analysis: Statistical Insights and the Introduction of VAMPP-Score for Pathogenicity AssessmentSemantic proximity Read ↗

The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.Semantic proximity Read ↗

Determining the pathogenicity of genetic variants associated with cardiac channelopathies.Semantic proximity Read ↗

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variantsSemantic proximity Read ↗

Voltage-gated sodium channel epilepsies in a tertiary care center: Phenotypic spectrum with correlation to predicted functional effects.Semantic proximity Read ↗

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditionsSemantic proximity Read ↗

Assessing the performance of 28 pathogenicity prediction methods on rare single nucleotide variants in coding regions.Semantic proximity Read ↗

Incorporation of clinical and molecular variant properties improves the performance of in silico pathogenicity prediction tools.Semantic proximity Read ↗

Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical FeaturesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.