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

Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel.

Journal of genetics - 1 Sept 2017

Bevilacqua Jen, Hesse Andrew, Cormier Brian, Davey Jennifer, Patel Devanshi, Shankar Kritika, Reddi Honey V

Abstract excerpt

Epilepsy is one of the most common neurological disorders with about 500 genes thought to be involved across the phenotypic spectrum (Busch et al. 2014; Ran et al. 2014), which includes monogenic, multigenic, epistatic and pleiotropic phenotype manifestations (Busch et al. 2014; Thomas et al. 2014), driving the need for a comprehensive diagnostic test. Next-generation sequencing (NGS) allows for the simultaneous...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsy
Share to Gene Expression Profiling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Genetic Predisposition to Disease

Share to Genetic Testing

Share to High-Throughput Nucleotide Sequencing

Share to Reproducibility of Results

Share to Sensitivity and Specificity

Source

Identifiers

PMID: 28947717
DOI: 10.1007/s12041-017-0791-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel.PMID 28947717Read ↗

Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical PracticeSemantic proximity Read ↗

Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation.Semantic proximity Read ↗

From next-generation sequencing to targeted treatment of non-acquired epilepsiesSemantic proximity Read ↗

Advances in genetic testing and optimization of clinical management in children and adults with epilepsySemantic proximity Read ↗

The contribution of next generation sequencing to epilepsy genetics.Semantic proximity Read ↗

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disordersSemantic proximity Read ↗

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsySemantic proximity Read ↗

Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.Semantic proximity Read ↗

Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy genetics.Semantic proximity Read ↗

Gene Panel Testing in Epileptic Encephalopathies and Familial EpilepsiesSemantic proximity Read ↗

Genetic Etiology of Epilepsy: A Retrospective Study From a Single-Center Cohort.Semantic proximity Read ↗

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.Semantic proximity Read ↗

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