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 next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy.

Acta neurologica Belgica - 1 Mar 2017

Gokben Sarenur, Onay Huseyin, Yilmaz Sanem, Atik Tahir, Serdaroglu Gul, Tekin Hande, Ozkinay Ferda

Abstract excerpt

We investigated the genetic background of early-onset epileptic encephalopathy (EE) using targeted next generation sequencing analysis. Thirty sporadic or familial cases associated with early-onset EE were included. An early-onset EE gene panel including sixteen genes (ARX, CDKL5, CNTNAP2, FOLR1, FOXG1, LAMC3, MBD5, MECP2, NTNG1, PCDH19, PNKP, SCN1A, SCN1B, SCN2A, STXBP1, KCNQ2) was constituted. Nine definite and...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Genetic Predisposition to Disease

Share to High-Throughput Nucleotide Sequencing

Share to Infant

Share to Spasms, Infantile

Source

Identifiers

PMID: 27734276
DOI: 10.1007/s13760-016-0709-z

Genes

KCNQ2
CDKL5
CNTNAP2
FOXG1
MBD5
PCDH19
STXBP1
ARX
FOLR1
LAMC3
MECP2
NTNG1
PNKP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy.PMID 27734276Read ↗

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

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

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.Semantic proximity Read ↗

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.Semantic proximity Read ↗

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

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.Semantic proximity Read ↗

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.Semantic proximity Read ↗

Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.Semantic proximity Read ↗

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.Semantic proximity Read ↗

Molecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients.Semantic proximity Read ↗

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patientsSemantic 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.