Associated Papers
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
From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.
Perera-Bel J et al.
Genome Medicine, 2018
29544535 (PubMed )
Supplement: 13073_2018_529_MOESM2_ESM.xlsx › MASTER-06
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
Electroencephalographic features of patients with SCN1A-positive Dravet syndrome.
Lee HF et al.
Brain & Development, 2015
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Lemke JR et al.
Nature Genetics, 2013
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