Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.A1685S
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SCN1A

NM_001165963.4:p.A1685S

Associated Papers

Dravet syndrome: novel insights into SCN1A-mediated epileptic neurodevelopmental disorders within the molecular diagnostic-therapeutic framework.

Zhang G et al.

Frontiers in Neuroscience, 2025

Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.

Martins Custodio H et al.

Brain : a Journal of Neurology, 2023

37006128 (PubMed )
Supplement: awad111_supplementary_data.zip › brain-2022-01408-File011.xlsx › new_edited

Late sodium current: incomplete inactivation triggers seizures, myotonias, arrhythmias, and pain syndromes.

Fouda MA et al.

The Journal of Physiology, 2022

Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.

Gorman KM et al.

Brain Communications, 2021

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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."