Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.G1480V
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SCN1A

NM_001165963.4:p.G1480V

Associated Papers

Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies.

Hieu NLT et al.

American Journal of Medical Genetics. Part A, 2022

Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases.

Chen C et al.

Frontiers in Molecular Neuroscience, 2022

SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Ding J et al.

Frontiers in Neurology, 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

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

Bagnall RD et al.

Annals of Neurology, 2016

The spectrum of SCN1A-related infantile epileptic encephalopathies.

Harkin LA et al.

Brain : a Journal of Neurology, 2007

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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."