ArticleInternational journal of molecular sciences2024
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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Who cites it
14 citing papers in PubMed, 16 citations in OpenAlex.
- Shared molecular pathways in pediatric genetic epilepsies: Insights from a single-center cohort of 80 patients.Epilepsia open · 2026Article
- Neurodegenerative Diseases in Children: A Comprehensive Review.International journal of molecular sciences · 2026Review
- WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review.Current issues in molecular biology · 2026Article
- Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics.International journal of molecular sciences · 2026Review
- No association between genetic ancestry and exome sequencing-based diagnosis of inborn errors of metabolism.NPJ genomic medicine · 2026Article
- Review
- STXBP6 regulates growth, metastasis and lipid metabolism of ovarian cancer cells via the PI3K/AKT signaling pathway.Medical oncology (Northwood, London, England) · 2025Article
- Linking Genotype to Clinical Features inGenes · 2025Review
- Article
- Identification of Genetic Variants in Status Epilepticus Associated With Fever.Brain and behavior · 2025Observational
- Developmental and Epileptic Encephalopathies: Need for Bridging the Gaps Between Clinical Syndromes and Underlying Genetic Etiologies.Indian journal of pediatrics · 2025Review
- Case Report:Frontiers in pediatrics · 2025Article
- Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders.Genome medicine · 2024Article
- Case Report: Targeted treatment by fluoxetine/norfluoxetine of aFrontiers in pharmacology · 2024Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
Developmental and epileptic encephalopathies (DEE) are severe neurodevelopmental disorders characterized by recurrent, usually early-onset, epileptic seizures accompanied by developmental impairment often related to both underlying genetic etiology and abnormal epileptiform activity. Today, next-generation sequencing technologies (NGS) allow us to sequence large portions of DNA quickly and with low costs. The aim of this study is to evaluate the use of whole-exome sequencing (WES) as a first-line molecular genetic test in a sample of subjects with DEEs characterized by early-onset drug-resistant epilepsies, associated with global developmental delay and/or intellectual disability (ID). We performed 82 WESs, identifying 35 pathogenic variants with a detection rate of 43%. The identified variants were highlighted on 29 different genes including, 3 new candidate genes (
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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.