Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.W1204*
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SCN1A

NM_001165963.4:p.W1204*

Associated Papers

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.

Henry OJ et al.

Epilepsia, 2025

40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01

Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.

Dahlin M et al.

Brain Communications, 2025

40290421 (PubMed )
Supplement: fcaf134_supplementary_data.zip › Dahlin_et_al._Supplementary_table_3_revised.xlsx › Bara_EP

Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.

Akbar F et al.

Epilepsy & Behavior Reports, 2022

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

A catalog of SCN1A variants.

Lossin C

Brain & Development, 2009

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."