Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.L1621W
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SCN8A

NM_001330260.2:p.L1621W

Associated Papers

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Menezes LFS et al.

Frontiers in Pharmacology, 2020

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

SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

Fung LW et al.

Epilepsia, 2015

In response: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

Kong W et al.

Epilepsia, 2015

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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."