Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.A1650V
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SCN8A

NM_001330260.2:p.A1650V

Associated Papers

Structure of human NaV1.6 channel reveals Na+ selectivity and pore blockade by 4,9-anhydro-tetrodotoxin.

Li Y et al.

Nature Communications, 2023

Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.

Arisaka A et al.

Epilepsy & Behavior Reports, 2021

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.

Gardella E et al.

Epilepsia, 2019

The spectrum of intermediate SCN8A-related epilepsy.

Johannesen KM et al.

Epilepsia, 2019

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
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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."