Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.V233I
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SCN8A

NM_001330260.2:p.V233I

Associated Papers

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

Henry OJ et al.

Epilepsia, 2025

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35696452 (PubMed )
Supplement: awac210_supplementary_data.zip › brain-2022-00093-File010.pdf

Phenytoin as a last-resort treatment in SCN8A encephalopathy.

Braakman HM et al.

Epilepsia Open, 2017

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