Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.A104V
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SCN1A

NM_001165963.4:p.A104V

Associated Papers

High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.

Kwong AK et al.

Epilepsia Open, 2021

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Gonsales MC et al.

Frontiers in Neurology, 2019

31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS

De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.

Myers KA et al.

Epilepsia, 2017

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.

Wang Y et al.

Scientific Reports, 2017

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

Kwong AK et al.

Plos One, 2012

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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."