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

Novel and de novo mutations in pediatric refractory epilepsy.

Molecular brain - 5 Sept 2018

Liu Jing, Tong Lili, Song Shuangshuang, Niu Yue, Li Jun, Wu Xiu, Zhang Jie, Zai Clement C, Luo Fang, Wu Jian, Li Haiyin, Wong Albert H C, Sun Ruopeng, Liu Fang, Li Baomin

Abstract excerpt

Pediatric refractory epilepsy is a broad phenotypic spectrum with great genetic heterogeneity. Next-generation sequencing (NGS) combined with Sanger sequencing could help to understand the genetic diversity and underlying disease mechanisms in pediatric epilepsy. Here, we report sequencing results from a cohort of 172 refractory epilepsy patients aged 0-14 years. The pathogenicity of identified variants was...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Epilepsies, Myoclonic

Share to Epilepsy

Share to Infant

Share to Infant, Newborn

Share to NAV1.1 Voltage-Gated Sodium Channel

Source

Open in PubMed Open full text

Identifiers

PMID: 30185235
DOI: 10.1186/s13041-018-0392-5
PMCID: PMC6125990

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel and de novo mutations in pediatric refractory epilepsy.PMID 30185235Read ↗

Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.Semantic proximity Read ↗

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

Genetic basis of pediatric epilepsy syndromesSemantic proximity Read ↗

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

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

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

Determining the best candidates for next‐generation sequencing‐based gene panel for evaluation of early‐onset epilepsySemantic 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 panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.Semantic proximity Read ↗

Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy.Semantic proximity Read ↗

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Semantic proximity Read ↗

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.Semantic proximity Read ↗

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