Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.Y202D
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SCN1A

NM_001165963.4:p.Y202D

Associated Papers

Cenobamate in pediatric epilepsy and developmental and epileptic encephalopathies: Efficacy, safety, and syndrome-specific considerations.

Samanta D

Epilepsy & Behavior : E&b, 2025

Successful treatment of adult Dravet syndrome patients with cenobamate.

Makridis KL et al.

Epilepsia, 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
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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."