Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.Y202fs
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SCN1A

NM_001165963.4:p.Y202fs

Associated Papers

SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.

LaFlamme CW et al.

Epilepsia, 2025

39932319 (PubMed )
Supplement: EPI-66-e66-s002.xlsx › Supplementary_Data_1

Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.

Sparber P et al.

Brain : a Journal of Neurology, 2024

Dravet syndrome in South African infants: Tools for an early diagnosis.

Esterhuizen AI et al.

Seizure, 2018

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