Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.D1866delFs
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SCN1A

NM_001165963.4:p.D1866delFs

Associated Papers

The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.

Ko YJ et al.

Journal of Epilepsy Research, 2021

Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.

Lee J et al.

Molecular Genetics & Genomic Medicine, 2020

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.

Symonds JD et al.

Brain : a Journal of Neurology, 2019

31302675 (PubMed )
Supplement: awz195_supplementary_data.zip › awz195-suppl_data › awz195_Supplementary_Table.pdf
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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."