ArticleMolecular genetics & genomic medicine2019
Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- SCN1A IVS5N+5 G>A Polymorphism and Risk of Febrile Seizure and Epilepsy: A Systematic Review and Meta-Analysis.Frontiers in neurology · 2020Pooled it
- Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.Brain : a journal of neurology · 2023Article
- SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions.Human molecular genetics · 2023Article
- Article
- Non-coding regulatory elements: Potential roles in disease and the case of epilepsy.Neuropathology and applied neurobiology · 2022Review
- Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice.Genome medicine · 2021Article
- Dravet VariantFrontiers in cellular neuroscience · 2021Article
- Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.Molecular genetics & genomic medicine · 2019Article
- Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants inNPJ genomic medicine · 2019Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPathogenic variants in SCN1A cause variable epilepsy disorders with different disease severities. We here investigate whether common variation in the promoter region of the unaffected SCN1A allele could reduce normal expression, leading to a decreased residual function of Nav1.1, and therefore to more severe clinical outcomes in patients affected by pathogenic SCN1A variants.
methodsFive different SCN1A promoter-haplotypes were functionally assessed in SH-SY5Y cells using Firefly and Renilla luciferase assays. The SCN1A promoter region was analyzed in a cohort of 143 participants with SCN1A pathogenic variants. Differences in clinical features and outcomes between participants with and without common variants in the SCN1A promoter-region of their unaffected allele were investigated.
resultsAll non-wildtype haplotypes showed a significant reduction in luciferase expression, compared to the wildtype promoter-region (65%-80%, p = 0.039-0.0023). No statistically significant differences in clinical outcomes were observed between patients with and without common promoter variants. However, patients with a wildtype promoter-haplotype on their unaffected SCN1A allele showed a nonsignificant trend for milder phenotypes.
conclusionThe nonsignificant observed trends in our study warrant replication studies in larger cohorts to explore the potential modifying role of these common SCN1A promoter-haplotypes.
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