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

Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing.

Annals of clinical and laboratory science - 1 Sept 2020

Lee Jiwon, Lee Chung, Park Woong-Yang, Lee Jeehun

Abstract excerpt

Dravet syndrome, one of the epileptic encephalopathies of childhood, is a genetic epilepsy caused by SCN1A mutation in 70-80% of the cases. Other genetic variants have been revealed in SCN1A-negative patients with Dravet syndrome. We investigated the utility of targeted gene panel testing in patients with Dravet syndrome and delineated the genotype-phenotype correlation. Targeted epilepsy gene panel testing...

Read the complete abstract on PubMed

Topics

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

Share to Cadherins
Share to Epilepsies, Myoclonic
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epileptic Syndromes

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to Protein Serine-Threonine Kinases

Share to Protocadherins

Share to Spasms, Infantile

Source

Identifiers

PMID: 33067208

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing.PMID 33067208Read ↗

Determining the best candidates for next‐generation sequencing‐based gene panel for evaluation of early‐onset epilepsySemantic proximity Read ↗

Clinical and Genetic Features of Dravet Syndrome: A Prime Example of the Role of Precision Medicine in Genetic EpilepsySemantic proximity Read ↗

Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients.Semantic proximity Read ↗

Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients.Semantic proximity Read ↗

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.Semantic proximity Read ↗

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

Late diagnoses of Dravet syndrome: How many individuals are we missing?Semantic proximity Read ↗

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.Semantic proximity Read ↗

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsySemantic proximity Read ↗

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

Genetic exploration of Dravet syndrome: two case report.Semantic proximity Read ↗

Dravet syndrome: a genetic epileptic disorder.Semantic proximity Read ↗

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