Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.M1538I
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SCN2A

NM_001040142.2:p.M1538I

Associated Papers

Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.

Thompson CH et al.

The Journal of General Physiology, 2023

Epilepsy-associated SCN2A (Na V 1.2) Variants Exhibit Diverse and Complex Functional Properties.

Thompson CH et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.

Foster LA et al.

Pediatric Neurology, 2017

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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."