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 application of whole-exome sequencing analysis in childhood epilepsy.

Journal of neurogenetics - 1 Dec 2024

Gavaz Meral, Aslan Elif S, Tekeş Selahattin

Abstract excerpt

The swift updates of public databases and advancements in next-generation sequencing (NGS) technologies have enhanced the genetic identification capacities of epilepsy clinics. This study aimed to evaluate the diagnostic efficacy of NGS in pediatric epilepsy patients as a whole and to present the data obtained in the whole exome sequence analysis. We enrolled 40 children with suspected childhood epilepsy in this...

Topics

Join the communities discussing this publication.

Epilepsy
Exome
Child
Child, Preschool
Exome Sequencing
Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

Source

Identifiers

PMID: 39654149
DOI: 10.1080/01677063.2024.2434869

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical application of whole-exome sequencing analysis in childhood epilepsy.PMID 39654149Read ↗

Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsySemantic proximity Read ↗

Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.Semantic proximity Read ↗

Utility of Whole-Exome Sequencing in Pediatric and Medical DiagnosisSemantic proximity Read ↗

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

Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.Semantic proximity Read ↗

Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.Semantic proximity Read ↗

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individualsSemantic proximity Read ↗

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.Semantic proximity Read ↗

Identification of genetic causes in children with unexplained epilepsy based on trio-whole exome sequencing.Semantic proximity Read ↗

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

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

Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic EncephalopathiesSemantic proximity Read ↗

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