Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.I1770N
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SCN1A

NM_001165963.4:p.I1770N

Associated Papers

Focal epilepsy due to de novo SCN1A mutation.

Laur D et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2021

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

Encephalopathy and SCN1A mutations.

Tang S et al.

Epilepsia, 2011

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