Associated Papers
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.
Sparber P et al.
Brain : a Journal of Neurology, 2024
Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome.
Türkyılmaz A et al.
Molecular Syndromology, 2022
Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis.
Mahdieh N et al.
Clinical Neurology and Neurosurgery, 2018
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
Sun H et al.
Journal of Human Genetics, 2010
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