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
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Application of next-generation sequencing technologies in Neurology.
Jiang T et al.
Annals of Translational Medicine, 2014
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Lemke JR et al.
Epilepsia, 2012
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