ArticleJournal of clinical neurology (Seoul, Korea)2017
SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.
Article in Journal of clinical neurology (Seoul, Korea), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- Genotype-driven therapeutics in DEE and metabolic epilepsy: navigating treatment efficacy and drug resistance.Scientific reports · 2024Article
- Cohort of Phenotype, Genotype, and Outcome ofJournal of pediatric genetics · 2023Article
- Progressive Worsening of Gait and Motor Abnormalities in Older Adults With Dravet Syndrome.Neurology · 2022Article
- SCN1B and SCN2B gene variants analysis in dravet syndrome patients: Analysis of 22 cases.Medicine · 2019Observational
- In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations.PloS one · 2019Article
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Authors and funding
8 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeDravet syndrome is a rare and severe type of epilepsy in infants. The heterogeneity in the overall intellectual disability that these patients suffer from has been attributed to differences in genetic background and epilepsy severity.
methodsEighteen Vietnamese children diagnosed with Dravet syndrome were included in this study. SCN1A variants were screened by direct sequencing and multiplex ligation-dependent probe amplification. Adaptive functioning was assessed in all patients using the Vietnamese version of the Vineland Adaptive Behavior Scales, and the results were analyzed relative to the SCN1A variants and epilepsy severity.
resultsWe identified 13 pathogenic or likely pathogenic variants, including 6 that have not been reported previously. We found no correlations between the presence or type of SCN1A variants and the level of adaptive functioning impairment or severity of epilepsy. Only two of nine patients aged at least 5 years had an adaptive functioning score higher than 50. Both of these patients had a low frequency of convulsive seizures and no history of status epilepticus or prolonged seizures. The remaining seven had very low adaptive functioning scores (39 or less) despite the variability in the severity of their epilepsy confirming the involvement of factors other than the severity of epilepsy in determining the developmental outcome.
conclusionsOur study expands the spectrum of known SCN1A variants and confirms the current understanding of the role of the genetic background and epilepsy severity in determining the developmental outcome of Dravet syndrome patients.
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