Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.R187W
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SCN1A

NM_001165963.4:p.R187W

Associated Papers

Genotype-driven therapeutics in DEE and metabolic epilepsy: navigating treatment efficacy and drug resistance.

Nguyen YTM et al.

Scientific Reports, 2024

Sodium channelopathies of skeletal muscle and brain.

Mantegazza M et al.

Physiological Reviews, 2021

Genes associated with idiopathic epilepsies: a current overview.

Lu Y et al.

Neurological Research, 2009

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

Lossin C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2003

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.

Sugawara T et al.

Proceedings of the National Academy of Sciences of the United States of America, 2001

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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."