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

Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy

31 Oct 2018

Abstract excerpt

Summary Objective Early onset drug‐resistant epilepsy is a neurologic disorder in which 2 antiepileptic drugs fail to maintain the seizure‐free status of the patient. Heterogeneous clinical presentations make the diagnosis challenging. We aim to identify the underlying genetic causes of a pediatric cohort with drug‐resistant epilepsy and evaluate whether the findings can provide information on patient management....

Read the complete abstract on PubMed

Topics

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

Share to Epilepsy research and treatment
Share to Genomics and Rare Diseases
Share to Glycogen Storage Diseases and Myoclonus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30868116
DOI: 10.1002/epi4.12282

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

Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsyPMID 30868116Read ↗

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practiceSemantic proximity Read ↗

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

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

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

Whole Exome Sequencing Based Diagnostics in Complex Childhood Epilepsy Syndromes-A Cohort Study on Clinical Utility.Semantic proximity Read ↗

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

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

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.Semantic proximity Read ↗

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.Semantic proximity Read ↗

Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.Semantic proximity Read ↗

Identification of Novel Gene Variants in Children With Drug-Resistant Epilepsy: Expanding the Genetic Spectrum.Semantic proximity Read ↗

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

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