ReviewCurrent neurology and neuroscience reports2017
Genetic Testing in Pediatric Epilepsy.
Review in Current neurology and neuroscience reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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.
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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.
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Who cites it
17 citing papers in PubMed, 54 citations in OpenAlex.
- Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.International journal of molecular sciences · 2024Article
- De Novo Variant in theGenes · 2023Article
- Article
- The Quality of Life of Children with Epilepsy and the Impact of the Disease on the Family Functioning.International journal of environmental research and public health · 2022Article
- Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.Epilepsy & behavior reports · 2022Article
- Whole-Exome Sequencing Identifies NovelFrontiers in pediatrics · 2022Article
- Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.Frontiers in genetics · 2021Article
- Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.Molecular genetics & genomic medicine · 2020Article
- Cardiac and neuronal HCN channelopathies.Pflugers Archiv : European journal of physiology · 2020Review
- Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.Frontiers in pharmacology · 2020Review
- Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.JAMA network open · 2019Article
- Epilepsy in Children: From Diagnosis to Treatment with Focus on Emergency.Journal of clinical medicine · 2019Review
- NBEA: Developmental disease gene with early generalized epilepsy phenotypes.Annals of neurology · 2018Article
- Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIPMolecular neurobiology · 2018Article
- Mutation in an alternative transcript ofCold Spring Harbor molecular case studies · 2018Article
- De novo BK channel variant causes epilepsy by affecting voltage gating but not CaEuropean journal of human genetics : EJHG · 2018Article
- Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.International journal of molecular sciences · 2018Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewThis article summarizes the emerging landscape of pediatric epilepsy, highlighting genetic contributions, and reviews approaches to genetic evaluation for pediatric epilepsy in this context. RECENT
findingsAdvances in understanding the genetic basis for epilepsy over the last several years have been due in large part to the identification of de novo genetic variation underlying sporadic severe epilepsy in children; the genetic underpinnings of the more common epilepsies remain largely unknown. Next-generation sequencing approaches have been added to the repertoire of clinical tests for the evaluation of pediatric epilepsy, improving our ability to make positive diagnoses. Yields of over 50% are now being reported in selected groups of patients. Genetic variation contributing to the risk for pediatric epilepsy spans continua of scale and influence. The highest yield of genetic testing is currently in children with sporadic severe epilepsy caused by de novo variation. The approach to genetic evaluation and interpretation of results requires an understanding of (1) the epilepsy phenotype and (2) the particular advantages and limitations of the different genetic tests available. Our understanding of genetic variation will continue to improve over time and "negative" results are best conceptualized as "unresolved" or "negative for now."
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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.