Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.D208fs
Back to variants list

SCN1A

NM_001165963.4:p.D208fs

Associated Papers

Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.

Gorman KM et al.

Brain Communications, 2021

34755109 (PubMed )
Supplement: fcab235_supplementary_data.zip › Original_Submission_-Author_s_Response.pdf

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.

de Lange IM et al.

Epilepsia, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."