ArticleOrphanet journal of rare diseases2018
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Customized multigene panels in epilepsy: the best things come in small packages.Neurogenetics · 2020Pooled it
- A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19.Molecular syndromology · 2024Article
- Preliminary Study on Clinical Characteristics and Pathogenesis ofPharmacogenomics and personalized medicine · 2024Article
- Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.Brain : a journal of neurology · 2023Article
- Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.Cellular and molecular life sciences : CMLS · 2023Article
- Clinical analysis ofPediatric investigation · 2022Article
- Neuromonitoring in Neonatal-Onset Epileptic Encephalopathies.Frontiers in neurology · 2021Review
- Prot2HG: a database of protein domains mapped to the human genome.Database : the journal of biological databases and curation · 2020Article
- Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.JAMA network open · 2019Article
- BiallelicJournal of central nervous system disease · 2019Article
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7 authors.
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Abstract
backgroundEpilepsy is a heterogeneous disease with a broad phenotypic spectrum and diverse genotypes. A significant proportion of epilepsies has a genetic aetiology. In our study, a custom designed gene panel with 112 genes known to be associated with epilepsies was used. In total, one hundred and fifty-one patients were tested (86 males / 65 females).
resultsIn our cohort, the highest probability for the identification of the cause of the disease was for patients with a seizure onset within the first four weeks of life (61.9% clarification rate) - about two times more than other groups. The level of statistical significance was determined using a chi-square analysis. From 112 genes included in the panel, suspicious and rare variants were found in 53 genes (47.3%). Among the 151 probands included in the study we identified pathogenic variants in 39 patients (25.8%), likely pathogenic variants in three patients (2%), variants of uncertain significance in 40 patients (26.5%) and likely benign variants in 69 patients (45.7%).
conclusionOur report shows the utility of diagnostic genetic testing of severe childhood epilepsies in a large cohort of patients with a diagnostic rate of 25.8%. A gene panel can be considered as a method of choice for the detection of pathogenic variants within patients with unknown origin of early onset severe epilepsy.
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