Associated Papers
Focal epilepsy due to de novo SCN1A mutation.
Laur D et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2021
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
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.
Kanai K et al.
Journal of Medical Genetics, 2009
Focal epilepsy resulting from a de novo SCN1A mutation.
Okumura A et al.
Neuropediatrics, 2007
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