ArticleMolecular genetics & genomic medicine2020
Modifier genes in SCN1A-related epilepsy syndromes.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 26 citations in OpenAlex.
- From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.Human genetics · 2026Article
- Endophenotype Research in Epilepsy Across Time.Brain sciences · 2025Article
- The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.Journal of nephrology · 2025Article
- Developmental mechanisms underlying pediatric epilepsy.Frontiers in neurology · 2025Review
- Fine mapping and candidate gene analysis of Dravet syndrome modifier loci on mouse chromosomes 7 and 8.Mammalian genome : official journal of the International Mammalian Genome Society · 2024Article
- Article
- Fine Mapping and Candidate Gene Analysis of Dravet Syndrome Modifier Loci on Mouse Chromosomes 7 and 8.bioRxiv : the preprint server for biology · 2024Article
- Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity inBiological psychiatry global open science · 2024Article
- SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.Brain : a journal of neurology · 2023Article
- Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.Brain : a journal of neurology · 2023Article
- Clinical characteristics and genetic analysis of pediatric patients with sodium channel gene mutation-related childhood epilepsy: a review of 94 patients.Frontiers in neurology · 2023Article
- Toward the use of novel alternative methods in epilepsy modeling and drug discovery.Frontiers in neurology · 2023Review
- Fine mapping and candidate gene analysis of a dravet syndrome modifier locus on mouse chromosome 11.Mammalian genome : official journal of the International Mammalian Genome Society · 2022Article
- Article
- Genetic Landscape ofMolecular syndromology · 2022Article
- Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.Journal of neurochemistry · 2021Review
- Case Report: Novel Homozygous Likely PathogenicFrontiers in neurology · 2021Article
- Modifier genes in SCN1A-related epilepsy syndromes.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundSCN1A is one of the most important epilepsy-related genes, with pathogenic variants leading to a range of phenotypes with varying disease severity. Different modifying factors have been hypothesized to influence SCN1A-related phenotypes. We investigate the presence of rare and more common variants in epilepsy-related genes as potential modifiers of SCN1A-related disease severity.
methods87 patients with SCN1A-related epilepsy were investigated. Whole-exome sequencing was performed by the Beijing Genomics Institute (BGI). Functional variants in 422 genes associated with epilepsy and/or neuronal excitability were investigated. Differences in proportions of variants between the epilepsy genes and four control gene sets were calculated, and compared to the proportions of variants in the same genes in the ExAC database.
resultsStatistically significant excesses of variants in epilepsy genes were observed in the complete cohort and in the combined group of mildly and severely affected patients, particularly for variants with minor allele frequencies of <0.05. Patients with extreme phenotypes showed much greater excesses of epilepsy gene variants than patients with intermediate phenotypes.
conclusionOur results indicate that relatively common variants in epilepsy genes, which would not necessarily be classified as pathogenic, may play a large role in modulating SCN1A phenotypes. They may modify the phenotypes of both severely and mildly affected patients. Our results may be a first step toward meaningful testing of modifier gene variants in regular diagnostics for individual patients, to provide a better estimation of disease severity for newly diagnosed patients.
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