ReviewFrontiers in genetics2018
Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.
Review in Frontiers in genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
61 citing papers in PubMed, 2 syntheses or guidelines pooled it, 149 citations in OpenAlex.
- Causal variants in Maturity Onset Diabetes of the Young (MODY) - A systematic review.BMC endocrine disorders · 2021Pooled it
- Customized multigene panels in epilepsy: the best things come in small packages.Neurogenetics · 2020Pooled it
- The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity.Epilepsia open · 2026Review
- Article
- Modeling epilepsy by loss-of-function of the CUG-binding protein Elav-like family member 2 in zebrafish with multi-omics analysis.Chinese medical journal · 2026Article
- Past, present, and future of genomic technologies in cerebellar ataxias.Journal of neurology · 2025Review
- Article
- The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.International journal of molecular sciences · 2025Article
- De Novo Variant in GBX1 Gene Associated With Developmental Delay and Focal Epilepsy.Molecular genetics & genomic medicine · 2025Article
- Article
- Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.International journal of molecular sciences · 2025Article
- GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics.Journal of translational medicine · 2024Review
- Article
- Viral-mediated gene therapy in pediatric neurological disorders.World journal of pediatrics : WJP · 2024Review
- Genetic exploration of Dravet syndrome: two case report.Journal of medical case reports · 2024Article
- Rapid in vivo evaluation system for cholestasis-related genes in mice with humanized bile acid profiles.Hepatology communications · 2024Article
- Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy.Methods in molecular biology (Clifton, N.J.) · 2024Review
- Molecular and Cellular Mechanisms of Epilepsy 2.0.International journal of molecular sciences · 2023Article
- Advanced Omics Techniques for Understanding Cochlear Genome, Epigenome, and Transcriptome in Health and Disease.Biomolecules · 2023Review
- Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability.Molecular neurobiology · 2023Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epilepsy is a neurological disorder characterized by an increased predisposition for seizures. Although this definition suggests that it is a single disorder, epilepsy encompasses a group of disorders with diverse aetiologies and outcomes. A genetic basis for epilepsy syndromes has been postulated for several decades, with several mutations in specific genes identified that have increased our understanding of the genetic influence on epilepsies. With 70-80% of epilepsy cases identified to have a genetic cause, there are now hundreds of genes identified to be associated with epilepsy syndromes which can be analyzed using next generation sequencing (NGS) techniques such as targeted gene panels, whole exome sequencing (WES) and whole genome sequencing (WGS). For effective use of these methodologies, diagnostic laboratories and clinicians require information on the relevant workflows including analysis and sequencing depth to understand the specific clinical application and diagnostic capabilities of these gene sequencing techniques. As epilepsy is a complex disorder, the differences associated with each technique influence the ability to form a diagnosis along with an accurate detection of the genetic etiology of the disorder. In addition, for diagnostic testing, an important parameter is the cost-effectiveness and the specific diagnostic outcome of each technique. Here, we review these commonly used NGS techniques to determine their suitability for application to epilepsy genetic diagnostic testing.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.