Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.R1924H
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SCN1A

NM_001165963.4:p.R1924H

Associated Papers

A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures.

Saito T et al.

Clinical Genetics, 2017

SCN1A testing for epilepsy: application in clinical practice.

Hirose S et al.

Epilepsia, 2013

Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?

Toldo I et al.

The Journal of Headache and Pain, 2011

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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."