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

Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.

Brain & development - 1 Feb 2026

Sanri Aslihan, Akca Unal, Mutlu Mehmet Burak, Sezer Ozlem, Sanri Emre, Karakaya Taner, Kurtgoz Serkan

Abstract excerpt

BACKGROUND: Epilepsy is a genetically heterogeneous disorder with a high burden in the pediatric population. Advances in next-generation sequencing (NGS) have enhanced molecular diagnosis, enabling more accurate subclassification and targeted interventions. OBJECTIVE: This study aimed to evaluate the diagnostic utility of epilepsy gene panel testing in a large pediatric cohort and to characterize the clinical and...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsy
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Infant

Share to Infant, Newborn

Share to KCNQ2 Potassium Channel

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to NAV1.2 Voltage-Gated Sodium Channel

Source

Identifiers

PMID: 41518736
DOI: 10.1016/j.braindev.2025.104498

Genes

KCNQ2
CACNA1A
SCN1A
SCN2A
SLC2A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.PMID 41518736Read ↗

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

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

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 ↗

Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implicationsSemantic 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 ↗

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic DiagnosisSemantic proximity Read ↗

Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications.Semantic proximity Read ↗

The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.Semantic proximity Read ↗

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

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

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

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