Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.W952*
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SCN1A

NM_001165963.4:p.W952*

Associated Papers

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

The SCN1A variant database: a novel research and diagnostic tool.

Claes LR et al.

Human Mutation, 2009

A catalog of SCN1A variants.

Lossin C

Brain & Development, 2009

Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.

Kearney JA et al.

Pediatric Neurology, 2006

SCN1A mutations and epilepsy.

Mulley JC et al.

Human Mutation, 2005

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

Fujiwara T et al.

Brain : a Journal of Neurology, 2003

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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."