Associated Papers
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
A novel de novo SCN1A missense mutation in Severe Myoclonic Epilepsy Borderland.
Specchio N et al.
Acta Neurologica Belgica, 2010
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