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

Whole-exome sequencing in pediatric drug-resistant epilepsy: diagnostic yield and clinical impact in a resource-limited setting.

Neurogenetics - 31 Aug 2026

Herini Elisabeth Siti, Triono Agung, Iskandar Kristy, Nugrahanto Andika Priamas, Damroni Rais Aliffandy, Mooiindie Khansadhia Hasmaradana, Timoti Joshua

Abstract excerpt

Drug-resistant epilepsy (DRE) in children is linked to poor developmental outcomes and increased mortality. Genetic factors are increasingly recognized in its pathogenesis, and whole- exome sequencing (WES) offers a promising diagnostic tool for early intervention, especially in cases with unclear etiology. However, data on the genetic causes of pediatric DRE remain scarce in Indonesia, a low-resource setting...

Read the complete abstract on PubMed

Topics

Humans
Child
Child, Preschool
Male
Female
Exome Sequencing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Infant

Drug Resistant Epilepsy

Adolescent

Retrospective Studies

Indonesia

Infant, Newborn

Genetic Testing

Mutation

Source

Identifiers

PMID: 42671607
DOI: 10.1007/s10048-026-00932-0

Genes

CC2D2A
ATP6V1A
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole-exome sequencing in pediatric drug-resistant epilepsy: diagnostic yield and clinical impact in a resource-limited setting.PMID 42671607Read ↗

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

Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy.Semantic proximity Read ↗

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

Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.Semantic proximity Read ↗

Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsySemantic proximity Read ↗

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

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

Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing.Semantic proximity Read ↗

Clinical application of whole-exome sequencing analysis in childhood epilepsy.Semantic proximity Read ↗

Uncovering etiologic genes through whole exome sequencing in pediatric epilepsy: A case series from ThailandSemantic proximity Read ↗

Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children.Semantic proximity Read ↗

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

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