Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.E1612K
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SCN1A

NM_006920.6:p.E1612K

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

Critical Role of E1623 Residue in S3-S4 Loop of Nav1.1 Channel and Correlation Between Nature of Substitution and Functional Alteration.

Su T et al.

Frontiers in Molecular Neuroscience, 2021

Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.

Azmanov DN et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2010

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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."