ArticlePloS one2017
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 62 citations in OpenAlex.
- Customized multigene panels in epilepsy: the best things come in small packages.Neurogenetics · 2020Pooled it
- Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case-control study and meta-analysis.Bioscience reports · 2018Pooled it
- A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.PloS one · 2019Trial
- The role of pharmacogenomics in epilepsy treatment: advancements in personalized medicine.The pharmacogenomics journal · 2026Review
- NovelHuman mutation · 2026Article
- Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis.Molecular syndromology · 2025Article
- ALG13-Related Epilepsy: Current Insights and Future Research Directions.Neurochemical research · 2024Review
- Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.Molecular genetics & genomic medicine · 2024Article
- ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.Molecular genetics and metabolism · 2024Review
- A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19.Molecular syndromology · 2024Article
- Article
- The Y831C Mutation of theBiomedicines · 2023Article
- Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics.Children (Basel, Switzerland) · 2023Review
- Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.European journal of human genetics : EJHG · 2023Article
- Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.Revista da Associacao Medica Brasileira (1992) · 2023Article
- Article
- Classifying epilepsy pragmatically: Past, present, and future.Journal of the neurological sciences · 2021Review
- Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.Genes · 2021Review
- The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.Epilepsia · 2021Article
- From bedside-to-bench: What disease-associated variants are teaching us about the NMDA receptor.The Journal of physiology · 2021Review
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy. The advent of next-generation sequencing has increased the success rate of epilepsy diagnosis, and targeted resequencing using genetic panels is the a most cost-effective choice. We report the results found in a group of 87 patients with epilepsy and developmental delay using targeted next generation sequencing (custom-designed Haloplex panel). Using this gene panel, we were able to identify disease-causing variants in 17 out of 87 (19.5%) analyzed patients, all found in known epilepsy-associated genes (KCNQ2, CDKL5, STXBP1, SCN1A, PCDH19, POLG, SLC2A1, ARX, ALG13, CHD2, SYNGAP1, and GRIN1). Twelve of 18 variants arose de novo and 6 were novel. The highest yield was found in patients with onset in the first years of life, especially in patients classified as having early-onset epileptic encephalopathy. Knowledge of the underlying genetic cause provides essential information on prognosis and could be used to avoid unnecessary studies, which may result in a greater diagnostic cost-effectiveness.
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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.