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
Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.
Yang X et al.
Scientific Reports, 2017
29142202 (PubMed )
Supplement: 41598_2017_15814_MOESM1_ESM.pdf
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
CACNA1A variants may modify the epileptic phenotype of Dravet syndrome.
Ohmori I et al.
Neurobiology of Disease, 2013
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