ArticleJournal of genetic counseling2016
Review of Commercially Available Epilepsy Genetic Panels.
Article in Journal of genetic counseling, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- Customized multigene panels in epilepsy: the best things come in small packages.Neurogenetics · 2020Pooled it
- Current Considerations in the Diagnosis and Treatment of Circadian Rhythm Sleep-Wake Disorders in Children.Seminars in pediatric neurology · 2023Article
- Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.Cell genomics · 2023Article
- Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.Frontiers in genetics · 2023Article
- 2022 Overview of Metabolic Epilepsies.Genes · 2022Review
- An emerging spectrum of variants and clinical features inChannels (Austin, Tex.) · 2021Review
- Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.American journal of human genetics · 2021Review
- Pharmacogenetic Testing: A Tool for Personalized Drug Therapy Optimization.Pharmaceutics · 2020Review
- PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.Nature genetics · 2019Article
- A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report.BMC pediatrics · 2019Article
- Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Contemporary scope of inborn errors of metabolism involving epilepsy or seizures.Metabolic brain disease · 2018Review
- De novo variants in neurodevelopmental disorders with epilepsy.Nature genetics · 2018Article
- Horizon Scan Of Clinical Laboratories Offering Pharmacogenetic Testing.Health affairs (Project Hope) · 2018Article
- Paediatric genomics: diagnosing rare disease in children.Nature reviews. Genetics · 2018Review
- Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel.Korean journal of pediatrics · 2018Review
- Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.Molecular genetics & genomic medicine · 2018Article
- Article
- Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.Frontiers in genetics · 2018Review
- The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Molecular diagnosis & therapy · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Next generation sequencing panels have revolutionized the diagnostic approach to patients with epilepsy. There are several commercial epilepsy panels available. We assessed the list of genes tested and consent forms for epilepsy panels available at seven laboratories. The panels varied in the number of genes included (70-465 genes). In some panels, genes not currently associated with epilepsy were included (up to 4 % of panel content). The panels also included genes for lysosomal storage disorders (6-12 %), congenital disorders of glycosylation (0-8.5 %), metabolic disorders (3.5-34 %), neurological syndromes (18-43 %) and multisystemic genetic syndromes (6.4-21 %). Informed consents differed significantly between laboratories ranging from basic information about genetic testing and possible results to information about insurance, genetic counseling and familial testing, and incidental findings.Our findings suggest that it is important to consider the range of genes offered on epilepsy panels and their predicted phenotypes in an effort toward improving the informed consent process.
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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.